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Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease

Zöller, Bengt LU ; He, X. and Dahlbäck, Björn LU (1995) In Thrombosis and Haemostasis 73(5). p.743-745
Abstract

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... (More)

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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publication status
published
subject
keywords
activated protein C, anticoagulant agent, arginine, blood clotting factor 5, glutamine, heparin, protein S, warfarin, adult, amino acid substitution, article, clinical article, controlled study, female, gene mutation, genetic disorder, homozygote, human, male, point mutation, priority journal, protein deficiency, risk factor, school child, vein thrombosis
in
Thrombosis and Haemostasis
volume
73
issue
5
pages
3 pages
publisher
F K Schattauer Verlag Gmbh
external identifiers
  • scopus:0029022665
ISSN
0340-6245
language
English
LU publication?
yes
id
6797c6a9-29ac-40ca-b114-fe6b0f0f5a6d
date added to LUP
2017-10-19 16:36:14
date last changed
2017-11-07 09:53:53
@article{6797c6a9-29ac-40ca-b114-fe6b0f0f5a6d,
  abstract     = {<p>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.</p>},
  author       = {Zöller, Bengt and He, X. and Dahlbäck, Björn},
  issn         = {0340-6245},
  keyword      = {activated protein C,anticoagulant agent,arginine,blood clotting factor 5,glutamine,heparin,protein S,warfarin,adult,amino acid substitution,article,clinical article,controlled study,female,gene mutation,genetic disorder,homozygote,human,male,point mutation,priority journal,protein deficiency,risk factor,school child,vein thrombosis},
  language     = {eng},
  number       = {5},
  pages        = {743--745},
  publisher    = {F K Schattauer Verlag Gmbh},
  series       = {Thrombosis and Haemostasis},
  title        = {Homozygous APC-resistance combined with inherited type I protein S deficiency in a young boy with severe thrombotic disease},
  volume       = {73},
  year         = {1995},
}