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Genetic association between factor V Leiden and coeliac disease

¹ Gastroenterology and Digestive Endoscopy Unit, "Nuovo Regina Margherita" and "S Giacomo" Hospitals, Rome, Italy
² Department of Vascular Surgery, University Tor Vergata, Rome, Italy
³ Gastroenterology and Digestive Endoscopy Unit, "Nuovo Regina Margherita" and "S Giacomo" Hospitals, Rome, Italy

Correspondence to:
Correspondence to:
Professor S Morini
Ospedale Nuovo Regina Margherita, Gastroenterologia ed Endoscopia Digestiva, Via Morosini 30, 00153, Roma, Italia; gastroroma@virgilio.it

Keywords: factor V Leiden; coeliac disease; linkage disequilibrium

The first 150 words of the full text of this article appear below.

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 Arg⁵⁰⁶Gln mutation at position 506.¹ As shown in fig 1, five siblings were also found to be affected by CD (histology performed in all cases) and were heterozygous carriers of factor V Leiden for the same mutation. The two diseases segregated as one in all cases while no sibling was affected by only one of the two diseases. This pattern of inheritance strongly suggests that the genetic mutation responsible for the onset of CD in this family . . . [Full text of this article]