Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDDCHIARI syndrome) in a family with a new Protein S gene mutation
Unknown Author(s)
Abstract
<p><strong>We report the case of a 26-year-old man with a chronic Budd</strong></p> <p><strong>Chiari syndrome (BCS) with ascites, caused by a hereditary </strong></p> <p><strong>Protein S (PS) deficiency, in a Turkish family with consanguinity. </strong></p> <p><strong>In this family, the father, the two sisters and the young brother </strong></p> <p><strong>suffered from severe venous thrombosis of the limbs, with pul</strong></p> <p><strong>monary embolism in two of them. </strong></p> <p><strong>Those thrombotic events are caused by a hitherto not reported </strong></p> <p><strong>mutation in the PROS 1 gene on chromosome 3, resulting in a </strong></p> <p><strong>severe familial PS deficiency. </strong></p> <p><strong>No other thrombophilic defect was detected in the family, </strong></p> <p><strong>despite extensive investigation. </strong></p> <p><strong>Furthermore, we observe hereditary twenty-nail dystrophy in </strong></p> <p><strong>this family, the two genes probably segregating independently. </strong></p> <p><strong>Prophylaxis is discussed. </strong>(Acta gastroenterol. belg., <strong>2006</strong>, 69, <strong>20- </strong></p> <p><strong>24</strong>).</p>
