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Thursday, December 12, 2013
Inherited Disorders and Birth Defects
My aunt was just diagnosed with Celiac Disease. Should I be tested for it, or should I wait to see if my dad (her brother) has it first? What exactly is Celiac Disease and why should I be worried about it?
Celiac disease is an autoimmune disease that affects primarily the small intestine. When people with Celiac disease eat foods with gluten in it (anything with wheat such as cereals, other grains such as rye and barley) it leads to inflammation and damage of the lining of the small intestine such that people cannot properly absorb nutrients. This can result in malnutrition and other complications.
Celiac disease has been found to have a strong genetic component. First degree relatives to someone with Celiac disease should be evaluated and tested for the disease. Researchers have found that Celiac disease is strongly associated with a group of genes on Chromosome 6. These genes (HLA class II antigens) are involved in the regulation of the body's immune response to the gluten protein.
In your case, your first degree relatives would be your parents, your children and your brothers and sisters. It would be very appropriate for your dad to be evaluated. If he has the disease or the genes that would make him more susceptible to developing Celiac disease, then you might want to also consider being tested.
I would recommend that you and your father talk to your doctor about being evaluated for Celiac disease. You might also want to talk to a geneticist or genetic counselor about your susceptibility to developing the disease. You can locate a genetics center near you at the National Society of Genetic Counselors’ Resource website listed below. Also, the Celiac Disease Foundation has additional information.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University