Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD- CHIARI syndrome) in a family with a new Protein S gene mutation
| Journal | Volume 69 - 2006 |
| Issue | Fasc.1 - Case reports |
| Author(s) | P. Gruselle, P. Ooghe, P. Cauchie, G. Van der Cruyssen |
| Full article |
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| (1) Department of Hepato-Gastro-Enterology, Vesale Hospital, CHU de Charleroi ; (2) Department of Clinical Biology, Vesale Hospital, CHU de Charleroi ; (3) Center for Medical Genetics, Ghent University Hospital, Belgium. |
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We report the case of a 26-year-old man with a chronic Budd- Chiari syndrome (BCS) with ascites, caused by a hereditary Protein S (PS) deficiency, in a Turkish family with consanguinity. In this family, the father, the two sisters and the young brother suffered from severe venous thrombosis of the limbs, with pul- monary embolism in two of them. Those thrombotic events are caused by a hitherto not reported mutation in the PROS 1 gene on chromosome 3, resulting in a severe familial PS deficiency. No other thrombophilic defect was detected in the family, despite extensive investigation. Furthermore, we observe hereditary twenty-nail dystrophy in this family, the two genes probably segregating independently. Prophylaxis is discussed. (Acta gastroenterol. belg., 2006, 69, 20- 24). |
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© Acta Gastro-Enterologica Belgica. |
