Thromb Haemost 1995; 73(05): 743-745
DOI: 10.1055/s-0038-1653861
Original Articles
Clinical Studies
Schattauer GmbH Stuttgart

Homozygous APC-resistance Combined with Inherited Type I Protein S Deficiency in a Young Boy with Severe Thrombotic Disease

Bengt Zöller
The Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Malmö, Sweden
,
Xuhua He
The Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Malmö, Sweden
,
Björn Dahlbäck
The Department of Clinical Chemistry, University of Lund, Malmö General Hospital, Malmö, Sweden
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Publikationsverlauf

Received 26. September 1994

Accepted after resubmission 15. Februar 1995

Publikationsdatum:
26. Juli 2018 (online)

Summary

Inherited resistance to activated protein C (APC) is a frequent cause of familial thrombosis. It is associated with a factor V gene point mutation replacing arginine506 in the APC-cleavage site with a glutamine. Thrombotic events are rare during childhood even in patients with homozygous APC-resistance. We now wish to report on a case of severe venous thrombosis, in a 10-year-old boy. He was found to have pronounced APC-resistance due to homozygous factor V gene mutation in combination with inherited type I protein S deficiency. The two traits were independently inherited in the family. The APC-resistance was partially corrected by adding factor V, whereas added protein S was without effect. This is the first reported case of homozygous APC-resistance combined with another inherited prothrombotic disorder. It illustrates how multiple genetic defects may provoke thrombosis at young age and emphasizes the need of complete evaluation of thrombotic patients in order to determine whether multiple risk factors exist.

 
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