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• W2978592343 abstract "Introduction: Celiac disease is an autoimmune disease that destroys the intestinal mucosa. Diagnosis depends on constellation of clinical, serological, histological, and genetic testing. Many diseases can have the same histological picture of celiac disease; common variable immunodeficiency (CVID) is one of them. Case Report: A 35-year-old surgical resident was referred to gastroenterology and hepatology clinic at our institution for evaluation of diarrhea and persistent abnormal liver function test (LFT) for several years. He has had a history of CVID since childhood, and has been on immunoglobulin replacement therapy since then. Extensive work-up was implemented for the elevated liver function test, including biopsy was negative. The Patient presented to our office with a concern about celiac disease as a cause of his diarrhea and abnormal LFT. Complete blood count showed microcytic, hypochromic anemia with anisocytosis. Serum metabolic work-up showed iron deficiency, hypocalcaemia, low vitamin D, and B12 levels, which may be consistent with enteropathy-induced malabsorption. Aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase, and gamma-glutamyl transpeptidase were 75, 78, 323, and 400 IU/L, respectively. Serum bilirubin was normal. Meticulous work-up again excluded infectious, metabolic, and autoimmune causes of elevated liver enzymes. Serology panel testing for celiac disease was negative. After that, the patient had duodenal biopsy that showed blunting of the villi consistent with celiac disease or CVID. The patient was placed on trial of a strict gluten-free diet (GFD) for 1 year. Iron, calcium, and B12 continued to be low. Serology tests continued to be negative in the context of CVID, and biopsies continued to be positive. So, human leukocyte antigen (HLA) typing (HLA DQ2 or DQ8) was done and came back negative, which excluded celiac disease. Hence, CVID was the underlying cause of persistently abnormal LFT and the sprue-like illness the patient had. Interestingly, he has a twin brother who has the same clinical picture. Conclusion: CVID may present with abnormal liver function test, diarrhea, and atrophy of duodenal villi mimicking gluten sensitive enteropathy. Gene studies (HLA testing) could be helpful in differentiating the 2 entities." @default.
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• W2978592343 date "2014-10-01" @default.
• W2978592343 modified "2023-09-25" @default.
• W2978592343 title "Diagnostic Challenges in the Evaluation of Abnormal Liver Function Test: Is It Celiac or Celiac-like Disease?" @default.
• W2978592343 doi "https://doi.org/10.14309/00000434-201410002-01275" @default.
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