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We identified a family in which a previously unknown genetic association between coeliac disease (CD) and mutation of factor V (factor V Leiden) occurred. The index case was a young woman who abruptly presented with severe ascites due to Budd-Chiari syndrome. At endoscopy, she presented with a scalloped duodenal mucosa suggestive of CD, further confirmed by histology and serological tests. Haematological assessment unveiled the mutation of factor V due to the Arg506 …
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