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Cause

The cause of Celiac Disease, also known as celiac sprue, or gluten sensitive enteropathy (GSE), is unknown. Research indicates that CD is strongly associated with a group of genes on Chromosome 6. These genes (HLA class II) are involved in the regulation of the body's immune response to the gluten protein fractions.

One out of 133 people in the United States is affected with celiac disease. CD occurs in 5-15% of the offspring and siblings of a person with celiac disease. In 70% of identical twin pairs, both twins have the disease. It is strongly suggested that family members be tested, even if asymptomatic. Family members who have an autoimmune disease are at a 25% increased risk of having celiac disease.

Symptoms

Celiac Disease may appear at any time in a person's life. The disease can be triggered for the first time after surgery, viral infection, severe emotional stress, pregnancy or childbirth. CD is a multi-system, multi-symptom disorder. Symptoms are extremely varied and can often mimic other bowel disorders. Infants, toddlers, and children often exhibit growth failure, vomiting, bloated abdomen and behavioral changes.

Classic symptoms may include:

bulletabdominal cramping, intestinal gas, distention and bloating
bulletchronic diarrhea or constipation (or both)
bulletsteatorrhea -- fatty stools
bulletanemia - unexplained, due to folic acid, B12, or iron deficiency (or all)
bulletweight loss with large appetite, or weight gain

Other symptoms:

bulletdental enamel defects
bulletosteopenia, osteoporosis
bulletbone or joint pain
bulletfatigue, weakness and lack of energy
bulletinfertility - male/female
bulletdepression
bulletAphthous ulcers

Dermatitis Herpetiformis (DH) is skin manifestation of celiac disease characterized by blistering, intensely itchy skin. The rash has a symmetrical distribution and is most frequently found on the face, elbows, knees and buttocks. DH patients can have gastrointestinal damage without perceptible symptoms.

Diagnosis

A person seeking preliminary diagnosis must be consuming gluten. Specific antibody blood tests are used to identify the presence of CD and are the initial step in screening and should include: IgA endomysial antibodies (EMA), IgA tissue transglutaminase (tTG), IgG tissue transglutaminase and Total IgA antibodies. It is essential that patients with positive antibody tests, and those with an IgA deficiency, have a small bowel biopsy to confirm the diagnosis and assess the degree of mucosal damage, which is performed endoscopically.

When serology and biopsy are inconclusive, testing for specific HLA (human leukocyte antigen) genes associated with celiac disease may be helpful in screening for CD. If these genes are NOT present, it is unlikely that the individual will develop CD. A positive HLA or genetic test, however, does not mean that the individual has the condition, as these genes are common in the general population. Patients should consult with an experienced physician to ensure proper diagnosis.

Dermatitis Herpetiformis (DH) is diagnosed by a biopsy of a skin lesion and staining for IgA in the tissues. More than 85% of DH patients have small-bowel sensitivity to gluten. Everyone with DH needs to follow a gluten-free diet.

Treatment

The only treatment for CD/DH is the lifelong adherence to a gluten-free diet. When gluten is removed from the diet, the small intestine will start to heal and overall health improves. Medication is not normally required. Because osteoporosis is common and may be profound in patients with newly diagnosed CD, bone density should be measured at or shortly after diagnosis. Consult your physician regarding specific nutritional supplementation to correct any deficiencies. The diagnosed celiac should have medical follow-up to monitor the clinical response to the gluten-free diet. Dietary compliance increases the quality of life and decreases the likelihood of osteoporosis, intestinal lymphoma and other associated illnesses.

Adapting to the gluten-free diet requires some lifestyle changes. It is essential to read labels which are often imprecise, and to learn how to identify ingredients that may contain hidden gluten.

Be aware that hidden gluten can be found in some unlikely foods such as: cold cuts, soups, hard candies, soy sauce, many low or non-fat products, even licorice and jelly beans.  Don't lick envelopes!

Potential harmful ingredients include:

bulletunidentified starch
bulletmodified food starch
bullethydrolyzed vegetable protein - HVP
bullethydrolyzed plant protein - HPP
bullettexturized vegetable protein - TVP
bulletbinders
bulletfillers
bulletexcipients
bulletextenders
bulletmalt

Gluten may also be used as a binder in some pharmaceutical products. Request clarification from food and drug manufacturers when necessary.

What Happens With Celiac Disease

When individuals with CD ingest gluten, the villi, tiny hair-like projections in the small intestine that absorb nutrients from food, are damaged. This is due to an immunological reaction to gluten. Damaged villi do not effectively absorb basic nutrients -- proteins, carbohydrates, fats, vitamins, minerals, and, in some cases, water and bile salts. If CD is left untreated, damage to the small bowel can be chronic and life threatening, causing an increased risk of associated disorders -- both nutritional and immune related.

Some long-term conditions that can result from untreated CD:

bulletIron deficiency anemia
bulletOsteoporosis
bulletVitamin K deficiency associated with risk for hemorrhaging
bulletVitamin and mineral deficiencies
bulletCentral and peripheral nervous system disorders -- usually due to unsuspected nutrient deficiencies
bulletPancreatic insufficiency
bulletIntestinal Lymphomas and other GI cancers
bulletLactose intolerance
bulletNeurological manifestations

Other associated autoimmune disorders:

bulletDermatitis Herpetiformis (DH)
bulletInsulin-dependent Type I Diabetes Mellitus
bulletThyroid Disease
bulletSystemic Lupus Erythematosus
bulletLiver Diseases

Less commonly linked to CD:

bulletAddison’s Disease
bulletChronic Active Hepatitis
bulletDown Syndrome
bulletRheumatoid Arthritis
bulletTurner Syndrome
bulletWilliams Syndrome
bulletSjögren’s Syndrome
bulletFibromyalgia
bulletAlopecia Areata
bulletScleroderma