PubMed · 14093545
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J P DAOUST, A H RUEL, R LAURIN. 1963. [MALABSORPTION].. https://pubmed.ncbi.nlm.nih.gov/14093545/
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BACKGROUND: Patients diagnosed with irritable bowel syndrome may have coeliac disease. AIM: To evaluate the cost-effectiveness of coeliac disease testing in suspected irritable bowel syndrome. METHODS: We used decision analysis to estimate the number of coeliac disease cases detected, quality-adjusted life-years gained, and costs resulting from testing suspected irritable bowel syndrome patients for tissue transglutaminase antibody or an antibody panel (tissue transglutaminase, gliadin, total immunoglobulin A). Positive tests prompted endoscopic biopsy. A gluten-free diet improved quality of life in coeliac disease. RESULTS: Assuming a coeliac disease prevalence of 3%, tissue transglutaminase detected 28 and the panel detected 29 of 30 coeliac disease cases among 1000 suspected irritable bowel syndrome patients. The cost/case detected was $4600 with tissue transglutaminase and $8800 with the panel. The cost/quality-adjusted life-year gained with tissue transglutaminase was $7400, and the incremental cost/quality-adjusted life-year gained for the panel vs. tissue transglutaminase was $287 000. Tissue transglutaminase cost under $100 000/quality-adjusted life-year gained at a coeliac disease prevalence >/=1.1%, assuming a modest utility gain of 0.005 with coeliac disease diagnosis. CONCLUSIONS: Testing for coeliac disease in patients with suspected irritable bowel syndrome is likely to be cost-effective even at a relatively low coeliac disease prevalence and with small improvements in quality of life with a gluten-free diet.
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We present a patient with Fabry disease with remarkable diagnostic findings and gluten-sensitive enteropathy. An 11-year-old girl was admitted to hospital with weight loss, anorexia, nausea, vomiting, flank pain, acroparesthesia, and painful extremities. Her mother had end-stage renal failure secondary to Fabry disease. On physical examination, she had growth retardation. Ophthalmological examination showed characteristic whorl-like corneal opacities and Fabry disease was confirmed with low alpha-galactosidase A (alpha-gal A) activity. Her painful attacks were treated with carbamazepine, but vomiting and nausea continued. Laboratory studies revealed positive serum anti-endomysium and anti-gliadin antibodies. Small intestinal biopsy showed subtotal villous atrophy compatible with gluten-sensitive enteropathy. Following treatment with a gluten-free diet, her gastrointestinal symptoms completely disappeared within a few weeks and then she had catch-up growth. In her long-term follow-up, proteinuria appeared and renal involvement was confirmed by characteristic renal biopsy findings. Following these clinicopathological findings, enzyme replacement therapy was started. In conclusion, although heterozygous females can be asymptomatic or are expected to have a mild course of the disease, a severe clinical course in our patient in the 2nd decade is of particular interest. In addition, Fabry disease occurring with gluten-sensitive enteropathy, a very rare co-existence, is emphasized.