Document Detail

Congenital prothrombotic disorders in children with peripheral venous and arterial thromboses.
MedLine Citation:
PMID:  17159337     Owner:  NLM     Status:  MEDLINE    
AIMS: To evaluate the prevalence of congenital prothrombotic disorders in children with peripheral venous and arterial thromboses. METHODS: Deficiencies in antithrombin (AT), proteins C (PC) and S (PS), and increased lipoprotein (a), and the presence of factor V (FV) G1691A, prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) mutations were investigated. RESULTS: Forty-eight patients (mean age, 3.4 years) were investigated. Of these patients, 23 had venous thrombosis, 22 had arterial thrombosis, and 3 had both. No patients had AT, PC or PS deficiency. FV G1691A mutation was present in 2 (7.6%) and 3 (12%) patients with venous and arterial thromboses, respectively. The prothrombin G20210A mutation was present in 1 (4%) patient with arterial thrombosis. Homozygous MTHFR C677T mutation was detected in 4 (18%) and 2 (9%) patients with venous and arterial thromboses, respectively. Increased lipoprotein (a) was present in 2 (10%) and 1 (4.5%) patients with venous and arterial thromboses, respectively. Regarding acquired risk factors, 79% of all thrombotic events were related to catheter usage. An underlying disease was present in 96% of the patients. CONCLUSIONS: Compared to acquired risk factors, congenital prothrombotic disorders are rarely present in children with peripheral venous and arterial thromboses. These results do not support general screening of children with venous and arterial thromboses for congenital prothrombotic disorders.
Manuela Albisetti; Alexander Moeller; Katharina Waldvogel; Vera Bernet-Buettiker; Vincenzo Cannizzaro; Alexia Anagnostopoulos; Christian Balmer; Markus Schmugge
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Publication Detail:
Type:  Journal Article     Date:  2006-12-06
Journal Detail:
Title:  Acta haematologica     Volume:  117     ISSN:  1421-9662     ISO Abbreviation:  Acta Haematol.     Publication Date:  2007  
Date Detail:
Created Date:  2007-03-28     Completed Date:  2007-04-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0141053     Medline TA:  Acta Haematol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  149-55     Citation Subset:  IM    
Copyright Information:
2007 S. Karger AG, Basel
Division of Hematology, University Children's Hospital, Zurich, Switzerland.
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MeSH Terms
Blood Coagulation Disorders, Inherited / epidemiology*,  genetics
Child, Preschool
Factor V / genetics
Infant, Newborn
Lipoprotein(a) / blood
Methylenetetrahydrofolate Reductase (NADPH2) / genetics
Point Mutation
Protein C Deficiency / epidemiology
Protein S Deficiency / epidemiology
Prothrombin / genetics
Risk Factors
Thrombophilia / congenital,  epidemiology*,  genetics
Venous Thrombosis / congenital,  epidemiology*,  genetics
Reg. No./Substance:
0/Lipoprotein(a); 9001-24-5/Factor V; 9001-26-7/Prothrombin; EC Reductase (NADPH2)

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