Coeliac Disease (or Celiac in American English) is a long term autoimmune disorder that primarily affects the wall of intestinal mucosa and they develop an intolerance to gluten. The reaction is to gliadin which is the alcohol soluble portion of gluten. Eating gluten triggers an immune response where the autoantibodies cause an inflammatory reaction in the small intestine producing a shortening and atrophy of the villi that line the intestinal mucosa. Over time that prevents the absorption of some nutrients (malabsorption) resulting in vague abdominal pains, diarrhea, fatigue, weight loss, bloating and anemia.
Gluten is the protein found in wheat, barley, rye as well as other grains. Celiac disease is not the same thing as gluten intolerance or gluten sensitivity, for which there are many myths and much misinformation on.
Coeliac disease affects just over 1% of the population, though a lot of cases do go undiagnosed due to milder symptoms. There is a genetic predisposition, mostly having the HLA DQ2 and HLA DQ8 alleles. It is commonly associated with some other autoimmune diseases (eg diabetes mellitus, abdominal lymphoma, selective IgA deficiency, hypo- and hyperthyroidism, myasthenia, sarcoidosis).
Clinical Features of Coeliac Disease:
In children, they classically present with diarrhea, bloating and gas, pains in the abdomen, nausea and vomiting, pale stools and constipation. There may also be symptoms associated with the malabsorption of nutrients such as a failure to thrive in infants, weight loss, anemia, irritability, short stature and delay in puberty.
The symptoms in adults are most likely to be diarrhea, fatigue, weight loss, bloating, pain in the abdomen, nausea and vomiting, constipation and iron deficiency anemia.
Dermatitis herpetiformis is common, leading to a pruritic rash usually on the elbows, knees, scalp, low back and buttocks.
Blood testing for “coeliac serology ” is initially done looking for coeliac markers (transglutaminase (tTG) and deamidated gliadin peptide (DGP) antibodies). The results are not really sufficient for diagnosis and 10% of the time, the autoantibodies in the blood are negative.
Diagnosis is by gastroscopy with a small intestinal biopsy.
Gene Testing for HLA DQ2/8 is not required for a diagnosis, but can be useful in some circumstances such as when assessing relatives for risk.
Due to initial symptoms some experiment with diet changes, many may reduce or stop gluten intake prior to the diagnosis and may lead to false negative and unreliable results. Testing for coeliac disease is going to be most accurate when a person is still consuming gluten.
The guidelines for a gluten challenge before testing vary, but generally they could be consuming >10gm of gluten a day for 6 weeks before testing (10 grams of gluten is contained in approximately four slices of wheat bread).
Coeliac Disease and the Foot:
While this is primarily a gastrointestinal disorder, there have been reports of chilblains in those with coeliac disease and there is an increased incidence for peripheral neuropathy.
Management of Celiac Disease:
There is no cure for this and those with it need to stick to a gluten free diet forever.
The damage in the intestines returns to normal with the gluten free diet which can take up to a year or more (repeated serology often shows the coeliac markers dropping over time).
Nutritional supplements to correct deficiencies, particularly iron. Transfusions of iron may be needed soon after diagnosis.
Advice from a dietitian is important early.
Those with Celiac disease are going to need to check food labels carefully and be aware of issues such as cross-contamination from sources of gluten.
The long term prognosis for Coeliac disease is excellent for those who adhere to the diet.
Future options are being investigated for developing genetically engineered grains and the inhibition of enzymes in the intestines.
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