Abstract
IntroductionWe report a case of sero-negative celiac disease in Pakistan.Case presentationA 20-year-old female presented with papulovesicular rash for 15 years, diarrhea for 8 years, spasms of hands and twitching of face for 4-5 months. She had mild anemia, low vitamin-D3 and serum calcium. On exclusion of other causes of malabsorption, anti-tissue transglutaminase antibodies (immunoglobulin-A & immunoglobulin-G), anti-endomysial antibodies, total immunoglobulin-A levels and skin biopsy were performed, which were normal. Intestinal biopsy revealed subtotal villous atrophy. Patient was prescribed gluten-free diet, to which she responded with alleviation of symptoms.ConclusionNegative serology should not rule out celiac disease; intestinal biopsy should be performed if there is strong clinical suspicion.
Highlights
We report a case of sero-negative celiac disease in Pakistan.Case presentation: A 20-year-old female presented with papulovesicular rash for 15 years, diarrhea for 8 years, spasms of hands and twitching of face for 4-5 months
Negative serology should not rule out celiac disease; intestinal biopsy should be performed if there is strong clinical suspicion
The presence of Marsh 3 lesion on intestinal biopsy together with a positive antibody profile is currently internationally accepted as celiac disease [2,3] a European multicenter series reported antibodynegative celiac disease accounting for 6.4% of all celiac disease cases [4]
Summary
Celiac disease (CD) is a disease entity characterized by damage of the small intestinal mucosa caused by the gluten contained in wheat and similar alcohol-soluble proteins of barley and rye, in genetically susceptible individuals [1]. In the light of history and examination, complemented by papulovesicular skin lesions, a provisional diagnosis of celiac disease with dermatitis herpetiformis was made and anti-tissue transglutaminase (anti-TTG) antibodies (IgA and IgG) and antiendomysial antibodies (anti-EMA) were performed. Patient was counseled to continue life-long gluten-free diet, and was prescribed calcium and folate supplementation, multivitamins and minerals She remained non-compliant and her symptoms continued, for which she had to be re-admitted to the hospital. At the time of her last follow up, the skin lesions had improved markedly and she reported considerable improvement in the quality of life
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