Handbook of Genetic Counseling/Coeliac Disease

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Genetic etiology of the disease

Incidence, genetic frequency and risk

Studies show an incidence of 1:133 people in the United States – common in 1:120 Worldwide - qualifies Celiac Disease as a global epidemic. The disease is inherited in 95-99% of people with Celiac disease testing positive for at least one of two DQ specific serotype patterns and some may have two copies of one or test positive for both DQ2 and DQ8. Professional medical experience with gluten intolerance and celiac disease has shown the gluten sensitivity problem is more complex and extends beyond the defined risk celiac genes DQ2 and DQ8. Testing positive for two DQ specific serotype patterns; DQ2/DQ2, DQ2/DQ8, or DQ8/DQ8 carry much higher risk for celiac disease and significantly more severe forms of gluten sensitivity.

A genetic test report stating DQ2 negative AND DQ8 negative reinforces a medical diagnosis that you do not carry the celiac disease gene. Unfortunately, a negative Celiac Disease report can be construed to mean that gluten is not a source of your problems. WRONG! All it teaches is that you probably do not have flattened villi! You still can have gluten intolerance with severe symptoms and risk of organ damage.

There are documented medical cases of celiac disease and the skin equivalent of celiac disease, dermatitis herpetiformis (DH) in individuals who have tested DQ2 and DQ8 negative. A prognosis that if you are DQ2 and DQ8 negative you are unlikely to have celiac disease or risk ever developing it, cannot be made with 100% certainty.

Clinical Synopsis

Recognizing celiac disease on the basis of the various manifestations of the disorder is difficult. The strict definition of celiac disease - specific damage to the small intestine which can be identified as flattened villi - is linked with genes DQ2 and DQ8. It is possible to have a severe case of malabsorption combined with other symptoms with gluten sensitivity and still not have celiac disease.

Gluten intolerance Recurrent diarrhea

Anemia

Antigliadin antibody

Autosomal recessive vs. multifactorial

Age of onset, disease history, and life span

Celiac cases present as one of three types that can occur at any age.

There is no test yet which is definitively diagnostic of celiac disease. Relief of symptoms or reversion of an abnormal intestinal biopsy to normal on a gluten-free diet is the most convincing evidence that an individual has celiac disease or gluten sensitivity.

Testing

Surveillance, management, and treatment options

The general understanding among celiac disease patients is that once diagnosed, a series of problems may be over, but many others will begin. Particularly frustrating is the limited information regarding what constitutes a gluten-free diet, what is safe and what is not, how to check for compliance, the potential complications of untreated celiac disease or of a delayed diagnosis, and how often it is necessary to follow up with the gastroenterologist.

Antibodies which are specific for celiac disease, genetic screening of families of celiacs and testing select populations have identified asymptomatic individuals who have circulating antibodies and changes on intestinal biopsies characteristic of celiac disease. These individuals clearly have a gluten sensitivity but it is unclear whether they will develop the clinical features of celiac disease over time. Removal of wheat (gluten) from the diet of individuals with celiac disease or gluten sensitivity results in regeneration of the intestinal mucosal absorptive surface area and resolution of symptoms in most patients.

Differential diagnoses

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