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LETTER
Genetic association between factor V Leiden and coeliac disease
  1. T Mari1,
  2. A Zullo1,
  3. C Hassan1,
  4. L Di Giulio2,
  5. S Morini3
  1. 1Gastroenterology and Digestive Endoscopy Unit, “Nuovo Regina Margherita” and “S Giacomo” Hospitals, Rome, Italy
  2. 2Department of Vascular Surgery, University Tor Vergata, Rome, Italy
  3. 3Gastroenterology and Digestive Endoscopy Unit, “Nuovo Regina Margherita” and “S Giacomo” Hospitals, Rome, Italy
  1. Correspondence to:
    Professor S Morini
    Ospedale Nuovo Regina Margherita, Gastroenterologia ed Endoscopia Digestiva, Via Morosini 30, 00153, Roma, Italia; gastroroma{at}virgilio.it

https://doi.org/10.1136/gut.2006.104786

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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→Gln …

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    • Conflict of interest: None declared.