Celiac disease in Pakistan: challenges and opportunities.

Celiac disease is a permanent intolerance to gluten (a protein present in wheat, rye and barley), which causes damage to the small intestinal mucosa by an autoimmune mechanism in genetically susceptible individuals. The villous atrophy that ensues can lead to malabsorption of a variety of macro and micronutrients including iron, calcium, folate and fat soluble vitamins. 1 Celiac disease was thought to be a rare malabsorptive disorder of infancy and childhood. However, it is now considered to be a common, chronic, multi-system disorder that can present at any age when gluten is present in the diet. Typical symptoms of celiac disease are abdominal pain, diarrhoea and weight loss. However, many individuals present with non-gastrointestinal (atypical) symptoms including anaemia, extreme weakness, short stature, osteoporosis, elevated liver transaminases, neuropathy, menstrual irregularities and infertility. Additional symptoms in children include vomiting, delayed growth and puberty and dental enamel defects. Dermatitis herpetiformis (DH) is 'celiac disease of the skin' and presents with a chronic, severely itchy, blistering rash that is poorly responsive to conventional therapies. A skin biopsy helps confirm the diagnosis of DH. Celiac disease is a hereditary disorder. Both first and second-degree relatives of the patient with celiac disease have a significant (5–15%) risk of developing the disorder. Other high-risk groups include patients with autoimmune disorders, e.g., type 1 diabetes, thyroiditis, and Down syndrome. Highly sensitive and specific serological tests are available to screen for celiac disease. 2,3 The currently recommended tests are the serum IgA-tissue transglutaminase antibody (TTG) and the IgA-endomysial antibody (EMA). These tests have a sensitivity and specificity of greater than 90%. The TTG is currently the test of choice and is widely available worldwide. IgA deficiency is common in celiac disease and hence total serum IgA level must also be measured to avoid a false-negative result. The serological tests are less reliable in children under 3 years of age. Also, the patient must be consuming a normal, gluten-containing diet at the time of testing. A negative test does not rule out celiac disease. Serological screening is recommended for all high-risk individuals. Patients with a positive TTG test should be referred for endoscopic small intestinal biopsies for confirmation of the diagnosis. Endoscopic biopsies, still remain the gold standard for diagnosis. Celiac disease can be effectively treated by a strict, lifelong adherence to a gluten-free diet. However, a gluten-free diet should not be started before a biopsy is done, as the …