Autism

What is Autism?
Autism is a developmental neurological disorder that impacts the functioning and development of the brain. Currently, one in every 150 children are diagnosed with the disorder. Autism usually appears within a child's first three years and is considered a spectrum disorder because it can manifest in a number of different ways. On the autism spectrum are Asperger's disorder and Rhett's disorder, among others. The prevalence of autism has been increasing at an estimated rate of 10-17% per year, however the cause remains unknown.

Symptom's of Autism
Autistic individuals typically have trouble in social settings and find communicating difficult. They can become quite frustrated and can exhibit self-injurious behavior as a result. The Autism Society of America also lists the following traits:

• Insistence on sameness; resistance to change
• Difficulty in expressing needs, using gestures or pointing instead of words
• Repeating words or phrases in place of normal, responsive language
• Laughing (and/or crying) for no apparent reason showing distress for reasons not apparent to others
• Preference to being alone; aloof manner
• Tantrums
• Difficulty in mixing with others
• Not wanting to cuddle or be cuddled
• Little or no eye contact
• Unresponsive to normal teaching methods
• Sustained odd play
• Spinning objects
• Obsessive attachment to objects
• Apparent over-sensitivity or under-sensitivity to pain
• No real fears of danger
• Noticeable physical over-activity or extreme under-activity
• Uneven gross/fine motor skills
• Non responsive to verbal cues; acts as if deaf, although hearing tests in normal range.

Autism and Celiac Disease
Dietary changes are common as treatment options for autism, with 2/3 of individuals with autism showing at least some improvement on a gluten-free, casein-free diet. Studies have found that opiates found in gluten and casein are released when they are improperly digested. When the GI tract is not in good condition, such as from celiac disease, these opiates get released into the bloodstream. The opiates not only impair brain function but also cause craving for foods containing gluten and casein, which increase the problem. Trial periods on gluten-free, casein-free diets tend to show symptoms of withdrawal followed by marked improvement in behavior and functioning. Although a gluten free diet is recommended for many autistic people, this does not mean they all have celiac disease. Celiac disease is one of many causes of a damaged GI tract, which make it difficult to properly break down gluten. Studies have not determined a direct link between celiac disease and autism, even though following similar diets have proven successful.

References:

• The Autism Society of America
• Dana Laake, MS, RDH, LDN
  Licensed Nutritionist, www.danalaake.com

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Dermatitis Herpetiformis

What is Dermatitis Herpetiformis (DH)?
Dermatitis Herpetiformis (DH) is a severe, itchy, blistering skin manifestation of celiac disease that is genetically determined and is not contagious.

The name, dermatitis herpetiformis, is a descriptive name and is not related to either dermatitis or herpes, but is a specific chronic skin condition. The rash may occur in the form of small lumps, like insect bites and in some cases form fluid filled blisters. These small blisters are called vesicles. However the rash may appear hive-like, persisting in one area. DH can flare and subside even without treatment.

The rash usually occurs on the elbows, knees, and buttocks. When the rash subsides, which it often does spontaneously, it may leave brown pigmentation or pale areas, where pigmention is lost.

Who Gets Dermatitis Herpetiformis?
DH affects males more often than females and generally presents in adult life (20-55). It is uncommon to see DH in children, but it can occur. Not all people with celiac disease develop dermatitis herpetiformis. Unlike other forms of celiac disease, the range of intestinal abnormalities in DH is highly variable, from minimal to severe. Only about 20 percent of people with DH have intestinal symptoms of celiac disease. However biopsies show that 80% have some degree of villous atrophy. Recent findings confirm that all patients with DH will display villous atrophy if a high gluten diet is maintained. There is a small subset of patients with celiac disease who develop DH even though they have been on a strict gluten free diet. Like celiac disease, it is not known why the condition develops at a particular time.

How is DH Treated?
Like celiac disease, DH is treated with a lifelong gluten-free diet. It may take about six months to achieve moderate improvement in the skin condition and up to two years or more to achieve total control by diet alone, meaning that the skin response is much slower compared to the healing of the intestines with celiac disease.

The rash symptoms can be controlled with medications such as dapsone. However, dapsone does not treat the intestinal condition, meaning that people with DH should also maintain a gluten-free diet.

What are the Celiac Implications of DH?
The majority of patients with DH do not display any symptoms of bowel disease despite the fact that their bowel biopsies are abnormal. They are said to have asymptomatic bowel disease. Both DH and celiac patients not on a gluten-free diet have a small, but statistically higher risk of developing lymphoma of the small intestine, particularly when the condition has been present for many years.

References:

• National Institutes of Health (http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/index.htm)
  
• The Coeliac Society of Australia (http://www.coeliacsociety.com.au/dermatitis-herpetiformis.htm)
  

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Type 1 Diabetes

What is diabetes?
Diabetes is a disease in which blood glucose levels, also called blood sugar, are above normal. As a result, the amount of glucose in the blood increases while the cells starve of energy. Glucose comes from food and is also made in the liver and muscles. Normally, the pancreas releases a hormone known as insulin into the blood, which is needed to convert sugar, starches and other food into energy for the cells. When the body does not produce or properly use insulin, glucose cannot get into the cells. Over the years, high blood glucose, also called hyperglycemia, damages nerves and blood vessels, which can lead to complications such as heart disease and stroke, kidney disease, blindness, nerve problems, gum infections, and amputation.

Diabetes often goes undiagnosed because many of its symptoms seem so harmless. Some diabetes signs and symptoms include: frequent urination, excessive thirst, extreme hunger, unusual weight loss, increased fatigue, irritability and blurry vision. Genetics and environmental factors such as obesity and lack of exercise appear to play roles in the development of this condition.

Type 1 Diabetes:
Type 1 diabetes, formerly known as juvenile diabetes, is usually diagnosed in children, teenagers and young adults. In this form of diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked and destroyed them.

Tests
Health care providers conduct a Fasting Plasma Glucose Test (FPG) or an Oral Glucose Tolerance Test (OGTT). Either test can be used to diagnose pre-diabetes or diabetes. With the FPG test, a fasting blood glucose level between 100 and 125 mg/dl signals pre-diabetes. A person with a fasting blood glucose level of 126 mg/dl or higher has diabetes. In the OGTT test, a person's blood glucose level is measured after a fast and two hours after drinking a glucose-rich beverage. If the two-hour blood glucose level is between 140 and 199 mg/dl, the person tested has pre-diabetes. If the two-hour blood glucose level is at 200 mg/dl or higher, the person tested has diabetes.

How is diabetes treated?
A major goal of treatment is to control the ABCs of diabetes: A1C (blood glucose average), Blood pressure, and Cholesterol.

• Healthy meal planning.
• Physical activity.
• Medications used for diabetes: oral agents (pills) and insulin, which is used for type 1 diabetes.
• Routine testing of blood glucose.

What are the celiac implications of diabetes?
There seems to be a link between type 1 diabetes and celiac disease. Some studies suggest that children with type 1 diabetes are more likely to have a subsequent diagnosis of celiac disease. According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), about 3-8 % of people with type 1 diabetes will have biopsy-confirmed celiac disease, thus individuals with type 1 diabetes would benefit from routine celiac disease screening.

Normally type 1 diabetes is diagnosed first because this type of diabetes tends to strike early in life and its diagnosis is certain. Also, celiac disease associated with diabetes is usually silent, showing no symptoms, and may only be found upon screening. Signs and symptoms, such as abdominal pain, gas, bloating, malabsorption, weight loss, and abnormal liver function tests may also be seen and easily confused with poor glucose control of type 1 diabetes or gastroparesis - when the muscles in the wall of the stomach do not function normally. Untreated celiac disease may also contribute to irregular blood glucose swings. Unexplained hypoglycemia, or low blood sugar, can be a sign of malabsorption related to celiac disease and should be investigated, particularly in small children. Both celiac disease and diabetes require dietary modifications for proper management, so the control or elimination of certain foods will keep the individual with either disease healthy.

References

• Celiac Disease, and Me!
  An Introduction to Living with Both Diseases, June 2003
  Kupper, C., Rinehart, J., Samuel, L., Jones, S. Diabetes
• American Diabetes Association
• Combining Diabetes and Gluten-Free Dietary Management Guidelines Practical Gastroenterology 2007: XXXI (3):68.
  Kupper, C., Higgins, L.A
• The Seven Principles for Controlling Your Diabetes for Life
• National Diabetes Information Clearinghouse

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Sjogren's Syndrome

What is Sjögren's syndrome?
Sjögren's syndrome is a disorder of the immune system characterized most often by dry eyes and a dry mouth. Since it is an autoimmune disorder, the body attacks its own cells and tissues. It remains unknown why this happens, but researchers believe that a combination of factors causes something to go wrong with the immune system. These factors may be related to heredity, hormones, a viral or bacterial infection, or the nervous system. In the case of Sjögren's syndrome, white blood cells called lymphocytes target, attack and damage the moisture-producing glands. This can lead to problems such as difficulty swallowing, dental cavities and vision problems. Sjögren's syndrome can also result in damage to tissues of the lungs, kidneys and liver.

Sjögren's syndrome that results from a rheumatic condition is classified as secondary Sjögren's syndrome. Primary Sjögren's syndrome occurs by itself.

Although there's no cure for Sjögren's syndrome, treatments can relieve many of the symptoms.

The Connection Between Celiac and Sjögren's:

• Both celiac disease and Sjögren's syndrome have an autoimmune background and a close association.
• Sjögren's syndrome had a ten times greater incidence in one study compared to non-celiacs.
• In another study, the prevalence of celiac disease amongst patients with Sjögren's syndrome has been found to be between 4.5% and 15%.
• According to Patinen et al., the co-occurrence of celiac disease and Sjögren's syndrome should be recognized because of its effects on dental and oral mucosal health. In their 1994 study, they suggested that a gluten-free diet treatment might alleviate autoimmune inflammation.
• On the basis of their findings, Szodoray et al. recommend screening, follow-up, and regular gastrointestinal care of Sjögren's syndrome patients to identify celiac disease cases and help them to avoid severe malnutrition and intestinal malignancies.

Signs and symptoms

Sjögren's syndrome can be difficult to diagnose because the signs and symptoms are similar to those caused by other diseases and can vary from person to person. In addition, the side effects of a number of medications can mimic some signs and symptoms of Sjögren's syndrome. Still, typical signs and symptoms of Sjögren's include:

• Dry eyes
• Dry mouth
• Dental cavities
• Fatigue
• Fever
• Enlarged parotid glands - one particular set of your salivary glands, located behind your jaw and in front of your ears
• Difficulty swallowing or chewing
• Change in sense of taste
• Hoarseness
• Oral yeast infections, such as candidiasis
• Irritation and mild bleeding in your nose
• Skin rashes or dry skin
• Vaginal dryness
• Dry cough that doesn't produce sputum
• Joint pain, swelling and stiffness

Who gets Sjögren's Sydrome?
Although anyone can develop Sjögren's syndrome, it typically occurs in people with one or more known risk factors. These include:

• It is common for people who have Sjögren's syndrome to also have a rheumatic disease, such as rheumatoid arthritis, lupus, scleroderma or polymyositis.
• Women are nine times as likely as men are to have Sjögren's syndrome.
• Sjögren's syndrome is usually diagnosed in people older than 40.
• Having a family history of Sjögren's.

Screening and diagnosis
Beyond reviewing your medical history, current medications and diet, the doctor can use various tests to diagnose Sjögren's syndrome, such as a blood test, tear test, imaging, biopsy, urine sample and a slit-lamp exam.

References

• Coeliac UK
• Luft LM et al. Autoantibodies to tissue transglutaminase in Sjögren's syndrome and related rheumatic diseases.
  Journal of Rheumatology 2003; 30(12): 2613-9
• RevolutionHealth
• Szodoray P et al. Coeliac disease in Sjögren's syndrome - a study of 111 Hungarian patients.
  Rheumatology International 2004; 24(5): 278-82

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Osteoporosis/Osteopenia

What is Osteoporosis?
Osteoporosis is a disease of the skeletal system characterized by low bone mass and deterioration of bone tissue causing bones to become weak, porous and more prone to fractures.  Bone is living growing tissue that changes throughout life. Bone remodeling is the process that removes older bones (resorption) and replaces it with newer bones (formation) to maintain a healthy skeleton. In the early years of life, new bone forms faster than resorption occurs until peak bone mass is reached. Usually, after the age of 30, bone resorption starts to exceed bone formation. As bone is lost, the skeletal structure weakens, leading to an increased risk of fractures. Thus, osteoporosis develops when bone resorption happens too quickly or bone replacement happens too slowly.

The possible consequences of osteoporosis include fractures, loss of height, stooped posture, back and hip pain, and breathing problems.

In the United States, osteoporosis is a major public health threat for an estimated 44 million Americans, or 55 % of the people 50 years of age and older.  Osteoporosis is a disease that affects considerably more women than men. Of the 10 million Americans estimated to have osteoporosis, 8 million are women and 2 million are men.  Additionally, 34 million Americans have low bone mass, which puts them at increased risk of developing osteoporosis and related fractures. One in two women and one in four men over age 50 will have an osteoporosis-related fracture in her/his remaining lifetime. While osteoporosis is often thought of as an older person's disease, it can strike at any age.
 
What Are Risk Factors for Osteoporosis?
Risk factors for osteoporosis are factors that do not seem to be a direct cause of the disease, but seem to be associated in some way. Having a risk factor for osteoporosis makes the chances of getting the condition higher but does not always lead to it. In addition, the absence of any risk factors or having a protective factor does not necessarily guard you against getting it. Certain people are more likely to develop osteoporosis than others; for example, women at a much higher risk for osteoporosis than are men.
 
Major Risk Factors

• Being female
• Advanced age/ Postmenopausal
• Being thin and/or having a small frame
• Being Caucasian or Asian, although African Americans and Hispanic Americans are at significant risk as well.
• Family history of osteoporosis
• Presence of certain chronic medical conditions

Risk Factors that are Modifiable

• Current low bone mass
• Abnormal absence of menstrual periods
• Anorexia nervosa or bulimia
• Deficiency or diet low in calcium and vitamin D
• Use of certain medications, such as corticosteroids and anticonvulsants
• A sedentary lifestyle
• Current cigarette smoking
• Excessive use of alcohol or caffeine

 
Screening and Diagnosis
To establish or confirm a diagnosis of osteoporosis, a bone mass measurement needs to be taken. Bone mineral density (BMD) tests are painless, non-invasive and safe. Bone density may be measured in the spine, hip, writs, finger, kneecap, shine bone, or heel depending on the machine. BMD can also be used  to predict future fracture risk, monitor changes in bone mass and assess response to therapy.
 
Treatment and Prevention
Since there is no cure for osteoporosis, preventing it is the best strategy available. Osteoporosis requires building as much bone as possible during your younger years and maintaining them as you age.

Diet, exercise, calcium, vitamin D and vitamin K play a key role in this process. Also, weight-bearing and muscle-strengthening activities should be performed regularly throughout life. Weight bearing exercises such as walking, hiking, jogging, stair-climbing, dancing, etc make bones and muscles work against gravity. Strength training improves bone density, muscle mass, strength and balance, protecting against both bone loss and falls.
A variety of medications are now effective in treating and preventing osteoporosis.
 
Osteoporosis and Celiac Disease
The link between celiac disease and excess bone loss remains controversial. However, there are several potential mechanisms for the relationship between celiac disease and bone density:

• Body composition
• Vitamin D deficiency
• Calcium malabsorption
• Magnesium malabsorption
• Inflammation

Since celiac disease is a problem of malabsorption and the small intestine is responsible for absorbing important nutrients, people with celiac disease can be deficient of nutrients such as calcium. Since calcium is needed to keep bones healthy, low bone density is common in both children and adults with untreated and newly diagnosed celiac disease. Some studies have shown normal or low BMD in children at the time of diagnosis. For example, Kalayci et al. found an approximate 10% improvement in BMD after children where put on a gluten-free diet. Additionally, osteopenia has been found in approximately 40-45% of patients at the time of diagnosis with celiac disease. However, it is important to keep in mind that there are conflicting data showing no higher incidence of CD in osteoporotic patients, such as in Mather et al.'s study in 2001.

It is important to screen celiac patients for calcium and vitamin D deficiencies, since most children and adults have significant improvements in bone density after adhering to a gluten-free diet. People with celiac disease who are on a gluten-free diet also need to follow the strategies mentioned above for bone health.
 
For more information, please visit the National Osteoporosis Foundation
http://www.nof.org/

or

Sports + Spinal Physical Therapy
2021 K Street, NW Suite 500
Washington, DC 20006
202-463-7611
www.sportsandspinalpt.com
 
References
Bone Health and Osteoporosis: A Report of the Surgeon General. http://www.surgeongeneral.gov/library/bonehealth/chapter_5.html
 
Dalkin, Alan. Celiac Disease: Implications for Osteoporosis lecture. "Maximizing Your Nutrition and Health on the Gluten Free Diet" Seminar. Inova Alexandria Hospital. January 20, 2007.
 
International Osteoporosis Foundation. http://www.osteofound.org/press_centre/fact_sheet.html
 
National Institute of Arthritis and Musculoskeletal and Skin Diseases.  http://www.niams.nih.gov/bone/hi/bowel/celiac.htm
 
National Osteoporosis Foundation.
http://www.nof.org/osteoporosis/diseasefacts.htm

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Thyroid Disease

Understanding the thyroid:
The thyroid is a small gland resting in the middle of the lower neck. Its primary function is to control the body's metabolism; the thyroid does this by producing T4 and T3 hormones, which tell the body's cells how much energy to use. A properly functioning thyroid will maintain the right amount of hormones needed to keep the body's metabolism functioning at a satisfactory rate. As the hormones are used, the thyroid creates replacements. The quantity of thyroid hormones in the bloodstream is monitored and controlled by the pituitary gland, located in the center of the skull below the brain. When the pituitary gland senses either a lack or a high level of thyroid hormones, it will adjust its own thyroid-stimulating hormone (TSH) and send it to the thyroid to tell it what to do.

What is thyroid disease and whom does it affect?

• Autoimmune Thyroiditis (Hashimoto's thyroiditis): is by far the most common type of thyroid disease. During the progression of the disease, the thyroid gland enlarges and it does not produce enough hormones. Thus, the body uses energy slower than it should. Eventually, the production of hormones is inadequate and hypothyroidism, a deficiency of the thyroid gland, is the result.
• Graves disease: Graves is rare, but it is the most common cause of hyperthyroidism. When the thyroid produces too much hormone, the body uses energy faster than it should.
  
  There are many different reasons why either of these conditions might develop. Currently, about 20 million Americans have some form of thyroid disease. People of all ages and races can get thyroid disease. However, women are five to eight times more likely than men to have thyroid problems.

Celiac Disease and Thyroid Disease
A significant number of patients with autoimmune thyroid disease also have celiac disease. The link between celiac disease and autoimmune thyroid disease is well established. Celiac disease and autoimmune thyroid disorders share a common genetic predisposition. This genetic predisposition may explain the higher incidence of thyroid autoimmune disorders among celiacs than in the general population.

It has been shown in studies that the prevalence of celiac disease in patients with autoimmune thyroid disease is 4-15 times greater than that in the general population. Various findings for the prevalence of celiac disease in Hashimoto's thyroiditis have been reported, between 3.3% and 4.8% in adults. According to a 2007 study published in the World Journal of Gastroenterology, patients with Hashimoto's thyroiditis should be screened for celiac disease and patients with known celiac disease should be screened for Hashimoto's thyroiditis.

In a large study published earlier by a group in the UK, confirmed celiac disease was found in 4.5% of adults with Graves disease.

According to the University of Chicago Celiac Disease Program, introducing a gluten-free diet in patients with celiac disease, with subclinical thyroiditis (only increased autoantibodies but no disease yet) is effective in most cases in bringing autoantibodies down to normal within two years. According to the study, if a patient with celiac disease already has diagnosed thyroiditis, then the gluten-free diet might not be effective.

What are the symptoms of hypothyroidism and hyperthyroidism?
The following are symptoms for hypothyroidism:  Fatigue, abnormal menstruation, forgetfulness, weight gain, dry and coarse skin and hair, hoarse voice, depression, intolerance to cold and the development of a goiter (enlargement of the thyroid gland).

The following are symptoms for hyperthyroidism: Irritability, nervousness, muscle weakness, tremors, lighter menstrual periods, weight loss, sleep problems, vision problems or eye irritation and heat sensitivity.

For more information, please visit the Thyroid Foundation of America
http://www.tsh.org/

References

• Coeliac UK
• The Cleveland Clinic Health Information Center. Thyroid Disease.
• University of Chicago Celiac Disease Program.
  Issues in the Diagnosis and Treatment of Celiac Disease: Thyroid Disease.
• Guliter, Sefa et al. Prevalence of coeliac disease in patients with autoimmune thyroiditis in a Turkish population.
  World Journal of Gastroenterology 2007; 13 (10).

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Intestinal Cancer

What is intestinal cancer?
Cancer of the small intestine is a rare form of cancer typically caused by four types of tumors or classifications. The most common type of small intestine cancer is adenocarcinoma. Other, less common types are: carcinoid tumors, gastrointestinal stromal tumors and lymphomas.

Celiac Disease and Small Intestinal Cancer:
If a person with celiac had the disease undiagnosed for a long period of time, or fails to maintain a gluten-free lifestyle after diagnosis, the chance of developing small intestinal cancer increases. Those with celiac disease are especially more likely to develop lymphomas in the small intestine because of their compromised immune system. In the past the increased risk of celiacs developing lymphomas was quite high, 40-100% more likely. However, more recent studies have shown that the risk of lymphoma is slightly higher than the normal population—much less than previously believed—and that this risk reaches unity with the normal population after a gluten-free diet has been maintained for several years.

Types of Intestinal Cancers:

• Adenocarcinoma: A type of cancer that begins in the lining of the small intestine, usually the duodenum. Adenocarcinomas make up 40-50% of all small intestinal cancers.
  
  Who Gets Adenocarcinoma?
  This type of intestinal cancer occurs most often in men later in life, the average age being 60 years. People with Crohns Disease and certain other inherited conditions—such as familial adenomatous polyposis and Peuts-Jegherssyndrome are at a higher risk of developing adenocarinomas.
  
• Carcinoid Tumors: Occurs when neuroendocrine cells grow abnormally, carcinoid tumors may also be refered to as neuroendocrine tumors or less aggressive neuroendocrine cancer. Carcinoid tumors often cause symptoms throughout the entire body, rather than just in the affected organ.
  
  Who Gets Carcinoid Tumors?
  People with a family history of multiple endocrine neoplasia—a rare inherited disease that causes increased risk of getting tumors in certain glands, or those with a family history of neurofibromatosis. Carcinoid tumors are more common in women and among African Americans. People with certain diseases that damage the stomach and reduce the amount of stomach acid have an increased risk of developing carinoid tumors.
  
• Gastrointestinal Stromal Tumors: These are fairly rare tumors that are now believed to start in the interstitial cells of Cajal (ICCs) in the walls of the GI tract. Some stromal tumors are benign.
  
  Who Gets Stromal Tumors?
  There are very few known risk factors that cause stromal tumors, it is believed that a family history of neurofibromatosis or familial gastrointestinal stromal tumor syndrome will increase a person's risk of getting stromal tumors.
  
• Lymphomas: Cancer of the lymphatic system that begins in the lymphoid tissue.
  
  Who Gets GI Lymphomas?
  Most patients have no known risk factors, old age seems to be the greatest factor in developing lymphomas. Some genetic risks factors that cause abnormal function of the immune system can also lead to lymphomas, as well as a diet high in animal fat and low in fruits and vegetables. Exposure to radiation and certain chemicals can increase the risk of lymphomas. Immune deficiencies—from organ transplants, etc, autoimmune diseases, and some infections can also increase the likelihood of a lymphoma developing.
  

What are the Symptoms of Intestinal Cancer?
Symptoms tend to be vague and unspecific. Complaints are often for pain throughout the body, not just focused in the digestive tract area. Abdominal pain and unexplained weight-loss are the two most common symptoms of intestinal cancer. Other symptoms include, but are not limited to, pain or cramping in the middle of the abdomen, a lump in the abdomen, blood in the stool, nausea, bloating, iron deficient anemia and jaundice.

Screening and Diagnosis of Intestinal Cancer
If your doctor suspects intestinal cancer they might order a barium contrast study, an upper GI tract endoscopy, an ultrasound or a colonoscopy depending on what type of cancer is suspected and the likely location. If tumors are found a biopsy will be performed to confirm that the cells are cancerous.

Treatment of Small Intestinal Cancer
The most common method of treatment of small intestinal cancer is surgery. The doctor will remove all of the visible tumor and some of the surrounding healthy area to ensure that all cancer has been removed. With lymphomas, the most common treatment is radiation therapy.

Celiac Disease and Other Malignancies

Although cancers of the small intestine might seem to be the only related malignancy with celiac, other studies have shown relations with other types of cancer. There is some evidence that patients with celiac have an increased risk of esophageal and pharyngeal carcinomas, a Swedish study found celiac 2.3 times more likely to develop these carcinomas. The same study also found an increased risk for colorectal cancer (SIR=1.5), however an English study found NO patients with celiac disease and colorectal cancer.  Celiacs also seem to have an increased risk of developing primary liver cancer. Breast cancer, on the other hand, is seen at a much lower frequency in celiacs than among the general population. This is possibly related to a lower frequency of smoking or lower body weight in celiacs.

The development of malignancies is rare, and although celiac disease does appear to coincide with increased frequencies of certain cancers it is by no means a common occurrence. If you suspect that you might have cancer, or are worried about developing cancer in the future, please discuss your concerns with your physician.

References:

Coeliac disease and lymphoma,
European Journal of Gastroenterology and Hepatology, 2006 18:131-2.
Kumar, Parveen.
Revolution Health
Healtwise/WebMD

• What is small intestine cancer?
• What are gastrointestinal carcinoid tumors?
• What Are Gastrointestinal Stromal Tumors?
• What is Non-Hodgkin Lymphoma?

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Peripheral Neuropathy

What is Peripheral Neuropathy?
Peripheral Neuropathy is a general category used to describe a variety of disorders of the peripheral nervous system—which includes the face, arms, legs, torso, some skull nerves, feet, hands, etc.  Neuropathy often affects people with autoimmune diseases. Those with diabetes are at a high risk of developing peripheral neuropathy. Other factors that may increase risk of neuropathy are:

• Alcohol abuse
• Vitamin deficiency
• Certain medical conditions—including some cancers, kidney and liver diseases, hypothyroidism
• Repetitive stress from work or hobbies
• Exposure to toxic substances
• Some bacterial or viral infections

Peripheral Neuropathy and Celiac Disease
Since neuropathy is most common among patients with autoimmune disorders it is not uncommon for those with celiac disease to experience some signs and symptoms of peripheral neuropathy. In fact, a 2003 study found that 5% of patients with peripheral neuropathy have celiac disease. The most common symptoms for celiacs to experience are sever burning, stinging and electric shock-type pains, adherence to a gluten-free diet lessens and/or eliminates almost all patients' symptoms.

Signs and Symptoms of Peripheral Neuropathy
Symptoms of neuropathy often begin gradually and localized, eventually spreading and increasing in awareness. Some patients with peripheral neuropathy may barely notice their symptoms and may think that nothing is wrong for many years, others feel constant and unbearable pain. Weakness of paralysis may occur if the motor nerves are affected. Bowel or bladder problems, reduced sweating, light headedness, fainting and impotence might occur is certain nerve groups have been damaged. The most common symptoms are:

• Pain
• Numbness
• Tingling
• Muscle weakness
• Burning
• Loss of feeling
• The sensation that you are wearing a sock or glove
• Sharp, jabbing or electric-like pain
• Extreme sensitivity to touch
• Lack of coordination

Diagnosis and Treatment
To help diagnose peripheral neuropathy, your doctor will take a full medical history and perform a physical and neurological exam. Some blood tests may be ordered—B-12 vitamins, thyroid function, urinalysis, and possibly electromyography (EMG), usually a nerve conduction study will be ordered to see how your nerves are carrying signals.

Treatment is based on managing the underlying condition that is causing the neuropathy. Medications can also help ease pain from symptoms of peripheral neuropathy, but many have long term side effects. Some patients receive relief from symptoms through acupuncture, hypnosis and meditation. However, the best way to treat peripheral neuropathy is to control the condition that is causing the symptoms.

References:

• The Mayo Clinic
• Peripheral Neuropathy Linked to Celiac Disease, article brief

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Depression

What is Depression?
Depression is a treatable medical illness marked by changes in mood, thought and behavior. It is not a character flaw or a sign of personal weakness. It is more than just feeling "down in the dumps" or "blue" for a few days, as these feelings persist and interfere with everyday life. The difference between "normal" feelings of sadness and the feelings caused by clinical depression are mainly:

• How intense the mood is
• How long the mood lasts
• How much it interferes with daily life

Depression can run in families and a person can have an episode of depression at any age. In addition, depression is estimated to affect more than 21% of women , making it twice as common in women as in men.

Celiac Disease and Depression
According to various studies, there is a possible linkage between brain functions and malabsorption.

• One study conducted by Addolorato et al., reported that depression was present in a higher percentage of celiac patients. They found that one year of gluten-free diet failed significantly to affect depressive symptoms. The presence of depression after introduction of the gluten-free diet could be related to the reduction in quality of life in celiac patients. The non-regression of depression after introducing the diet could suggest that these patients need psychological support.

• Another study found that celiac disease increased a patient's risk of subsequent depression. Moreover, patients with celiac disease were 1.8 times as likely to develop subsequent depression as those without the gastrointestinal disorder. Also, prior depression increased the risk of celiac disease at odds ratios of 2.3. The investigators suggested, in the Journal of Affective Disorders, that this increased risk might be due to increased screening for the condition among patients with mood disorder compared to healthy individuals.

• Ludvigsson and colleagues suggested that the positive association between celiac disease and subsequent depression might be due to "malnutrition or active bowel inflammation in individuals with celiac disease." For example, folate deficiency is implicated in both celiac disease and depression. The team noted that red cell folate levels were significantly lower in people with depression than those with bipolar disorder, potentially explaining why celiac disease is associated with subsequent depression but not bipolar disorder. Tryptophan levels, which were reduced in patients with celiac disease and those with depression, might also explain the association between the conditions.

• According to Mayo Clinic psychiatrist Daniel Hall-Flavin, M.D., doctors have long known of the relationship between low levels of vitamin B-12 and depression. Vitamin B-12 and other B vitamins, such as folate, play a role in the production of certain neurotransmitters, which are important in regulating mood and other brain functions. However, it is less clear whether vitamin B-12 deficiency may be the cause or the result of depression. Poor nutrition is one cause of vitamin B-12 deficiency. But poor nutrition may also be a consequence of depression. People who are depressed may lose interest in eating or make less healthy food choices, which may lead to vitamin B-12 deficiency.

Some studies attribute the relationship between celiac disease and depression to the psychological weight of having a chronic disease with a restrictive diet, sudden lifestyle changes or dietary compliance. Moreover, poor absorption of vitamins and minerals can make the celiac disease patient feel sick and depression can be a side effect of not having an adequate balance of nutrients. All these factors can affect mood and emotions. For some patients following a strict gluten-free diet is sufficient, while for others, counseling, psychological support and pharmacological treatment is helpful.

Causes of Depression
A combination of genetic, psychological, and environmental factors can cause depression. The cells of the brain, also known as neurons, communicate with each other using special chemical compounds called “neurotransmitters.” When someone is depressed, there is a chemical imbalance in the neurotransmitters. Since the brain controls the whole body, people with depression may also have aches and pains that cannot be linked to any other condition. The direct causes of the illness are unclear, however it is known that body chemistry can bring on a depressive disorder, due to experiencing a traumatic event, hormonal changes, altered health habits, the presence of another illness or substance abuse.

Types of Depression

• Major depressive disorder: People who have a major depressive disorder have had at least one major depressive episode (five or more symptoms for at least a two-week period). For some people, this disorder is recurrent, which means they may experience episodes once a month, once a year or several times throughout their lives.

• Dysthymia: A low-level state of depressed mood that last for more than two years in adults (or one year in children) and a person has not been symptom-free for more than two months at a time. The depressed state of dysthymia is not as severe as with major depression, but can be just as disabling.

• Postpartum depression is a type of depression that affects 10-15% of all new mothers.

A particular form of depression called seasonal affective disorder (SAD) is caused by seasonal shifts in daylight hours.

What are the symptoms of depression?

• Prolonged sadness or unexplained crying
• Significant changes in appetite and sleep patterns
• Irritability, anger, worry, agitation, anxiety
• Indifference
• Loss of energy, persistent lethargy
• Feelings of guilt, worthlessness
• Inability to concentrate, indecisiveness
• Inability to take pleasure in former interests, social withdrawal
• Unexplained aches and pains
• Thoughts of death or suicide

Treatment
When talking to your doctor about depression, keep in mind that it's important for him or her to address any underlying physical conditions — such as vitamin B-12 deficiency, thyroid disease or certain types of anemia — that may be contributing to depression. Treatment of these underlying conditions may improve depression. However, if depression persists after successful treatment of the underlying condition, your doctor may recommend treatment that specifically targets your depression, such as antidepressants or psychotherapy.

References

• Addolorato G, et al. Anxiety and depression in adult untreated celiac subjects and in patients affected by inflammatory bowel disease: a personality "trait" or a reactive illness? Hepatogastroenterology. 1996 Nov-Dec; 43(12):1513-7
• Addolorato G. et al.  Anxiety but not depression decreases in coeliac patients after one-year gluten-free diet: a longitudinal study. Scandinavian Journal of Gastroenterology. 36(5):502-6, 2001 May.
• Depression and Bipolar Support Alliance.
• Fera T. et al. Affective disorders and quality of life in adult coeliac disease patients on a gluten-free diet. European Journal of Gastroenterology & Hepatology. 2003 Dec; 15(12):1287-92.
• MedLine Plus

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Infertility

What is infertility?
Infertility is defined as the biological inability of a woman or man to contribute to conception. Many experts define infertility as not being able to get pregnant after at least one year of trying. Women who are able to get pregnant but then have repeat miscarriages are also said to be infertile. According to the National Center for Health Statistics, roughly 12% of women in the United States—up to 7.3 million—had difficulty getting pregnant or carrying a baby to term in 2002.

Although it is commonly believed that infertility is heavily related to female factors, only about one-third of cases of infertility actually stem from the woman. About one-third of cases originate with the male partner and the remaining cases are a combination of unknown factors or a mix of male and female complications.

Infertility in Women:
Most women who suffer from infertility have a problem with ovulation, meaning there is a complication with the eggs being released to be fertilized. Other causes of infertility include:

• Ovulation issues
• Problems with the uterus lining
• Uniterin fibroids
• Blocked fallopian tubes because of endometriosis, ectopic pregnancy, or pelvic inflammatory disease.

Factors that increase a woman's risk of infertility:

• Age
• Diet
• Athletic activity
• Stress
• Overweight or underweight
• Smoking
• Alcohol consumption
• Sexually transmitted diseases (STDs)
• Health problems that cause hormonal changes
• Celiac Disease

Infertility in Men:
Infertility in men is generally caused by producing too few or no sperm. The problem may also be the sperm's ability to travel to the female's egg and fertilize it. This is typically caused by abnormal sperm shape that prevents it from traveling in the correct form.

Factors that increase a man's risk of infertility:

• Alcohol consumption
• Drugs
• Toxins in the environment such as lead and pesticides
• Smoking
• Chemotherapy and radiation treatment for cancer
• Celiac disease

Celiac Disease and Infertility Link:
Over the last 10 years, several studies have examined the link between celiac disease and infertility and found that women suffering from unexplained infertility may have clinically silent celiac disease.

• One study conducted by physicians at Thomas Jefferson University Hospital in Philadelphia found that the rate of recurrent spontaneous abortion (RSAB) and infertility in celiac disease patients is at least four times higher than the general population. They suggested that patients who experience unexplained infertility or RSAB should be screened for celiac.

• Another study from the Department of Medicine at Tampere University Hospital and Medical School at the University of Tampere Finland found that the rate of celiac disease among women reporting infertility was 4.1%. Although the exact reason for the increased risk remains unknown, the researchers suggested that female celiac patients who are not adhering to a gluten-free diet have a shortened reproductive period and early menopause. Males with celiac disease have shown gonadal dysfuction, which could also contribute to fertility complications.

• The link between celiac disease and infertility is currently being evaluated by researchers at Molinette Hospital in Turin Italy. Early reports from their research suggest that the prevalence of celiac disease among women with unexplained infertility is 2.5% to 3.5% higher than the control population. They suggest that celiac disease represents a risk for abortion, low birth weight babies and short-breast feeding periods, all of which can be corrected with a gluten-free diet.

Tests for Infertility:

• Hysterosalpingography: Physicians use x-rays to check for physical problems of the uterus and fallopian tubes. They inject a special dye through the vagina into the uterus, which shows up on the x-ray. This will allow the physician to determine if the dye moves normally through the uterus into the fallopian tubes. With these x-rays, doctors can find blockages that may be causing infertility.
• Laparoscopy: During this surgery doctors use a tool called a laparoscope to see inside the abdomen. The doctor makes a small cut in the lower abdomen and inserts the laparoscope. Using the laparoscope, doctors check the ovaries, fallopian tubes, and uterus for disease and physical problems. Doctors can usually find scarring and endometriosis by laparoscopy.

Treating Infertility:
There are several ways to treat infertility including:

• Medicine (clomiphene, Human menopausal gonadotropic, follicle-stimulating hormones,  gonadotropic releasing hormones, metformin, and bromocriptine).
• Surgery
• Artificial insemination or assisted reproductive technology.
• Often times treatments are combined.

References:

• National Women's Health Information Center (NWHIC)
• American College of Obstetricians and Gynecologists (ACOG) Resource Center
• American Society for Reproductive Medicine
• Resolve: The National Infertility Association

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Williams Syndrome

What is Williams Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare, congenital disorder which occurs in 1 in 20,000 live births. Clinical diagnosis of Williams syndrome is based on a variety of physical and developmental characteristics. This condition is caused by missing part of the genetic material on one copy of chromosome 7. The problem is usually caused by a random mutation, so parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each child.

What are the common features of Williams syndrome?

• Characteristic facial appearance
• Heart and blood vessel problems
• Elevated blood calcium levels
• Slightly lower birth-weight / low weight gain
• Feeding problems
• Irritability (colic during infancy)
• Dental abnormalities
• Kidney abnormalities
• Hernias
• Sensitive hearing
• Musculoskeletal problems
• Overly friendly personality
• Developmental delay, learning disabilities and attention deficit

How is Williams syndrome diagnosed?
When the common features of Williams syndrome are recognized, referral to a clinical geneticist for further diagnostic evaluation is appropriate. The technique known as fluorescent in situ hybridization (FISH) is a diagnostic test of the DNA that can detect William syndrome. The clinical diagnosis can be confirmed by a blood test.

What is the treatment?
There is no cure for Williams syndrome. Treatment is symptomatic and supportive. Individuals with Williams syndrome need regular monitoring for potential medical problems by a physician familiar with the disorder, as well as specialized services to maximize their potential.

What is the prognosis?
Some degree of mental retardation is found in about 75% of patients with Williams syndrome. Also, most patients have a shortened life expectancy, due to complications. Additionally, the majority of patients do not live independently of care givers.

Williams Syndrome and Celiac Disease

• Researchers in Italy have shown that celiac disease coexists with Williams syndrome. In a 2001 study, Giannotti et al. found that the prevalence of celiac disease among patients with Williams syndrome was 9.6%. On this basis, Giannotti et al. recommend antibody screening for celiac disease in patients with Williams syndrome.

• The occurrence of celiac disease in patients with Williams syndrome has been described by different authors and the minimum prevalence of celiac in Williams syndrome has been found to be 8.6%.

• The association may be interpreted as a consequence of a more general metabolic imbalance present in chromosomal disorders.

References

• Ashkenas, J. Williams syndrome starts making sense. American Journal of Human Genetics. 1996; 59:756–761.
• Grilloa, Rita et al. Search for Coeliac Disease Susceptibility Loci on 7q11.23 Candidate Region: Absence of Association with the ELN17 Microsatellite Marker. Human Heredity 2000;50:180–183.
• National Institute of Neurological Disorders and Stroke.
  Williams Syndrome Information Page.
• Screening for celiac disease has benefits in Williams syndrome. Archives of Disease in Childhood. 2002;86:275
• The Williams Syndrome Association.
• Williams Syndrome Foundation.

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Turner Syndrome

What is Turner Syndrome?
Turner syndrome (TS) is a chromosomal condition affecting only females that is caused by complete or partial absence of the second sex chromosome. TS causes common physical characteristics, the most common being short stature and lack of sexual development at puberty. Females with TS have a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism.

Who Gets Turner Syndrome?
Turner syndrome only occurs in females and is found in about 1 in 2000 live births, and potentially as many as 10% of all miscarriages.

Signs and Symptoms
The most common symptom of TS is short stature, without growth hormone therapy most girls will reach a final height of 8 inches shorter than they otherwise would have been. With growth hormone therapy the average final height is 4'8”. Other symptoms include:

• Fetal abnormalities (fluid around the neck)
• Webbed neck or lymphedema (swelling of the hands and feet)
• Specific heart problems in infants
• Slow growth, delayed puberty or amenorrhea
• Infertility or menstrual irregularities
• Premature ovarian failure (occurs in 90% of TS patients)
• Narrow, high arched palate, low set ears, and low hairline
• Broad chest, arms that turn out slightly at the elbows, scoliosis
• Small, narrow finger and toe nails that turn up at the end
• Kidney abnormalities, hypothyroidism, and frequent ear infections

Diagnosis and Treatment
Diagnosis is done by a test called a karyotype, this is usually performed on cells in the amniotic fluid before birth or can be done on cells found in the blood after birth. Treatment depends on the individual's symptoms and health complications due to TS. Often growth hormone therapy is administered to increase growth and final height in patients. Estrogen therapy is also needed in many patients due to ovarian failure. Estrogen therapy is given in order to initiate puberty and breast development, maintain healthy bone mass, and possibly normalize sexual function.

Relation of Celiac Disease and Turner Syndrome
Studies have found that girls with Turner syndrome are much more likely that then general population to test positively for celiac disease, estimates range from a 2% occurrence up to more than 8% of TS patients having celiac disease. Females with Turner Syndrome should be regularly tested for celiac disease in addition to other yearly exams.

References

• The Turner Syndrome Society
• The National Organization for Rare Disorders
• Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome, 87;12: 5495-5498. Margherita Bonamico et al.

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Liver Disease

What is the Liver?
The liver is one of the largest and most important organs in the body. It stores vitamins, sugars, fats, and other nutrients from the food. It builds chemicals that the body needs to stay healthy, breaks down harmful substances like alcohol and other toxic chemicals, and removes waste products from the blood.

What is Liver Disease?
The term liver disease applies to many diseases and disorders that cause the liver to function improperly or stop functioning. Abnormal results of liver function tests often suggest liver disease.

• Primary biliary cirrhosis is an inflammation of the bile ducts of the liver resulting in narrowing and obstruction. The cause of inflamed bile ducts within the liver in this condition is not known. The disease more commonly affects middle-aged women. The onset of symptoms is gradual, with fatigue and itching skin as the most common first symptom. Long-standing bile obstruction is believed to lead to liver cirrhosis. The disease may be associated with autoimmune disorders. Symptoms can include: Itching, jaundice, enlarged liver, abdominal pain, fatty deposits under the skin, soft yellow spots on the eyelid and fatty stools.

• Autoimmune hepatitis is inflammation of the liver caused by immune cells that mistake the liver's normal cells as harmful invaders. A person with autoimmune hepatitis has autoantibodies circulating in the bloodstream that cause the immune system to attack the liver. Autoimmune hepatitis sometimes occurs in relatives of people with autoimmune diseases, suggesting a genetic cause. This disease is most common in young girls and women. Symptoms can include: dark urine, loss of appetite, fatigue, malaise, abdominal distention, generalized itching, pale or clay-colored stools, nausea and vomiting.

Other Liver Diseases Associated with Celiac Disease

• Reactive hepatitis - Irritation of the liver that sometimes causes permanent damage.
• Autoimmune liver disorders
• Autoimmune (sclerosing) cholangitis - An inflammation of the bile ducts of the liver without a specified cause.
• Non-alcoholic fatty liver disease - A range of conditions involving the liver that affects people who drink little or no alcohol and causes a build-up of excess fat in liver cells.
• Acute liver failure - Liver failure is severe deterioration of liver function
• Cryptogenic cirrhosis - Cirrhosis due to unidentified causes and a common reason for liver transplantation. Cirrhosis is a chronic problem that makes it hard for the liver to remove toxins from the body.
• Regenerative nodular hyperplasia - A rare disorder that is often associated with connective tissue disorders; cancer of the blood, bone marrow and lymph nodes; or drugs and is a cause of non-cirrhotic portal hypertension.
• Hepatocellular carcinoma - A primary cancer of the liver.

Liver Disease and Celiac Disease
There is growing evidence that a many liver injuries in children and adults may be related to CD, the disease-causing mechanism of liver damage in celiac patients is poorly understood. The different types of liver disease described may represent a spectrum of a same disorder where individual factors, such as genetic predisposition, early exposure and duration of exposure to gluten may influence the reversibility of liver damage.

Celiac disease has been found in:

• 6.4% of patients with autoimmune hepatitis
• 5-10% of patients with chronically abnormal liver tests and no obvious cause of liver disease.
• 6-8% of patients with autoimmune liver diseases
• Research has shown a 3% prevalence of primary biliary cirrhosis in people with celiac disease. In single cases, celiac disease has also been found to be associated with autoimmune cholangitis and primary sclerosing cholangitis.

Treatment
Treatment with a gluten-free diet in patients with both celiac disease and liver disease can lead to prevention of hepatic failure even in severe cases where liver transplantation is being considered.

References

• American Liver Foundation
• Coeliac UK
• Duggan, J. M. et al. (2005). Systematic review: the liver in coeliac disease. Alimentary Pharmacology and Therapeutics 21 (5), 515–518.
• Iacono, O Lo et al. (2005). Anti-tissue transglutaminase antibodies in patients with abnormal liver tests: is it always coeliac disease? American Journal of Gastroenterology, 2472-7.
• Lawson, J. West, G. P. Aithal, R. F. A. Logan (2005). Autoimmune cholestatic liver disease in people with coeliac disease: a population-based study of their association. Alimentary Pharmacology and Therapeutics 21 (4), 401–405.
• Maggiore, Giuseppe et al. (2006). Liver Involvement in Celiac Disease. Indian Journal of Pediatrics, Vol 73. Available at: http://medind.nic.in/icb/t06/i9/icbt06i9p809.pdf
• Medline Plus

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Juvenile Idiopathic Arthritis

What is Juvenile Idiopathic Arthritis (JIA)?
There are several different types of juvenile arthritis. The most common form is juvenile idiopathic arthritis, also known as juvenile rheumatoid arthritis. This chronic inflammatory disease describes a clinically different group of arthritis (joint inflammation), which begins before the age of 16 and lasts for at least six weeks. The cause of disease is still poorly understood but it seems to be related to both genetic and environmental factors.

What Are the Symptoms and Signs of Juvenile Idiopathic Arthritis?
 Children with JIA vary in the degree to which they are affected by particular symptoms. Arthritis is best described by four major changes in the joints that may develop. The most common features of JIA are: joint inflammation, joint contracture (stiff, bent joint), joint damage and/or alteration or change in growth. Other symptoms include joint stiffness following rest or decreased activity level, and weakness in muscles and other soft tissues around involved joints. However, because JIA affects each child differently, your child may not experience all of these changes. Children also vary in the degree to which they are affected by any particular symptom.

Main Types of Juvenile Idiopathic Arthritis

• Pauciarticular is defined as arthritis of fewer than 5 joints. This type often includes inflammation in the eyes.
• Polyarthritis includes arthritis in 5 or more joints.
• Systemic arthritis is characterized by high fevers, rash, and inflammation of other organs, in addition to arthritis.

How is JIA Diagnosed?
There is not one single test to diagnose this condition. However, doctors diagnose JIA by carefully examining the patient and considering the patient's medical history, the results of laboratory tests, and X rays that help rule out other conditions.

What is the Treatment?
 The overall goal of JIA treatment is to control symptoms, prevent joint damage and maintain function. Some of recommend treatments include medication, exercise, physical therapy, eye and dental care, and diet.

Juvenile Idiopathic Arthritis and Celiac Disease

• Several studies have suggested that JIA is associated with celiac disease in a frequency between 1.5% - 6.6%
• Lepore et al concluded that the prevalence of celiac disease is increased in patients with JIA.
• In most cases of associated celiac disease and other autoimmune diseases, the onset of JIA occurs before celiac disease has been detected and treated. Therefore it seems reasonable to suggest that untreated celiac disease predisposes patients to other autoimmune diseases.

References

• American College of Rheumatology
• Arthritis Foundation
• Cincinnati Children's Hospital Medical Center
• George EK. Juvenile chronic arthritis and coeliac disease in The Netherlands. Clinical and Experimental Rheumatology; 1996, 14(5):571-5.
• Juvenile Idiopathic Arthritis. JAMA. Patient Page. 2005, 294,13.
• Lepore, Loredana et al. Prevalence of celiac disease in patients with juvenile chronic arthritis. The Journal of Pediatrics; 1996, Vol 129, 2, 311-313.
• National Institute of Arthritis and Musculoskeletal and Skin Diseases.
  Ravelli, A. Juvenile Idiopathic Arthritis. Lancet; 2007, 369(9563):767-78.
• Stagi, S. Thyroid Function, Autoimmune Thyroiditis and Coeliac Disease in Juvenile Idiopathic Arthritis. Rheumatology; 2005, 44:517–520

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Down Syndrome

What is Down Syndrome and Who gets Down Syndrome?
Down syndrome is a developmental disorder caused by a chromosomal anomaly in which each cell contains 47 chromosomes instead of the normal 46. It has been determined that an extra partial or complete 21st chromosome results in Down syndrome. Down syndrome is very rarely inherited, it is usually caused by a mistake in cell division during the development of the egg, sperm or embryo.  About one in every 700 children born have Down syndrome, as many as 600 are born every year in the United States. Mother at high risk of having children with Down syndrome include those who are trying to have children later in life (the likelihood of a mother having a baby with Down syndrome is as high as one in 30 births after the age of 45) or those who already have a child with Down syndrome.

What are the Signs and Complications of Down Syndrome?
Down syndrome causes mild to moderate mental retardation and those affected often share similar physical characteristics as a result of the extra 21st chromosome, these are:

• Flattened facial features
• Protruding tongue
• Small head
• Upward slanting eyes, uncommon for the person's ethnic background
• Unusually shaped ears
• Poor muscle tone
• Broad, short hands with a single crease on the palm
• Relatively short fingers
• Excessive flexibility
• Slow growth and smaller size compared to those of similar age

Down syndrome can cause many complications, most of which are completely treatable. Some complications of Down syndrome are:

• Heart defects
• Leukemia
• Infectious diseases, such as pneumonia, due to a weakened immune system
• Gastrointestinal blockage and problems
• Thyroid problems
• Hearing loss
• Vision problems

How is Down Syndrome Diagnosed?
Screening for Down syndrome is a routine part of prenatal care, especially if the mother has heightened risk factors. The most effective screening test are completed between the 11th and 14th week of pregnancy, ultrasound and certain blood tests—to measure levels of pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin—measure certain risk factors that could indicate a baby with Down syndrome. Approximately one in 20 women test positive for one of these factors, but most end up giving birth to healthy babies.

If screening tests show abnormal results amniocentesis, choronic villus sampling—where cells are taken from the placenta to analyze fetal chromosomes, or percutaneous umbilical blood sampling are ordered. If a doctor suspects that a baby has Down syndrome after birth, they will order a chromosomal karotype for the baby to confirm diagnosis.

Treatment for Down Syndrome
There is currently no known medical treatment to cure Down syndrome. Doctors are able to treat other medical complications that may result due to Down syndrome; such as heart defects, leukemia, gastrointestinal problems, and hearing problems. Other medical professionals like physical therapists, speech pathologists and occupational therapists can help develop skills.

The Link Between Celiac Disease and Down Syndrome
Studies have shown that approximately 5-10% of people with Down syndrome also have celiac disease. This is largely because those with Down syndrome are at higher risk of developing autoimmune diseases compared to the normal population.

Resources:

• The National Down Syndrome Society
• The National Digestive Diseases Information Clearinghouse, NIH
• Celiac Disease and Down Syndrome, by Dr. Len Leshin.
• Mayo Clinic.com

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