Celiac disease – also known as celiac sprue or gluten sensitivity enteropathy- is an increasingly common chronic disease that affects 1 in 100-200 individuals- mainly those of Northern European decent. Unfortunately, a large majority of these individuals are undiagnosed. Patients with celiac disease possess a genetic predisposition which produces an abnormal response of the small bowel’s immune system to wheat, rye, and barley due to a protein component of gluten called gliadin.
The clinical presentation of a patient with untreated celiac disease can be diverse and stems from malabsorption and poor breakdown of food components. Common presentations include non-bloody diarrhea, iron deficiency, abdominal pain, gas and bloating, weakness and fatigue and unexplained weight loss. In children, blunted growth due to malabsorption is possible. Infertility and fetal loss are also potentially associated. Skin manifestations including dermatitis herpetiformis- seen in 10-20% of patients with celiac disease- is noted by numerous small, itchy, bumpy and raised lesions commonly found on the back of the arms or legs and on the lower trunk.
The limiting factor to making a diagnosis of celiac disease is a lack of a high clinical suspicion by failure to recognize the many potential presentations. Celiac disease is usually diagnosed after the detection of certain antibodies to the gliadin protein in the blood and after noting small bowel changes obtained during an upper endoscopy consistent with celiac disease. Once diagnosed, appropriate management decisions can be initiated with symptomatic improvement gradually noted over several weeks.
Treatment consist of a diet complete of avoidance of wheat, rye and barely (also known as a gluten-free diet). Oats are well tolerated if not cross contaminated with one of the culprit grains above (they can be processed at the same mills). Grocery stores now commonly have an aisle dedicated to gluten-free foods and restaurants cater to patients with celiac disease as well. Whole food stores will carry a wide selection of gluten free foods. Seeing a nutritionist can be of great benefit to ensure a well-balanced diet is still maintained while practicing a gluten-free diet. Recipes are common on the web and via magazines as well.
The prognosis of compliant patients (95%) who avoid gluten completely is generally excellent with no long-term detriments. The prognosis in the small portion of patients non-responsive to complete gluten withdrawal (termed refractory celiac disease) is much graver. The most common reason for failure to treatment via a gluten free diet is continued consumption of gluten containing foods, often unknowingly. Immunosuppression with steroids or immunomodulators is rarely required. Untreated individuals tend to have a higher overall mortality and risk of malignancies, especially lymphoma.
There is a subgroup of patients who do not have the antibody profile or the biopsy findings sufficient to diagnose celiac disease, but unexplainably are responsive with drastic improvement of symptoms upon undertaking a gluten-free diet. These patients are diagnosed with gluten sensitivity and are potentially recommended to limit gluten intake as necessary to control symptoms.
If you suffer from any of the symptoms consistent with celiac disease, you may need to be evaluated by your health care provider to begin the pathway to relief and prevention of further complications.