Literature DB >> 10490533

Congenital thrombophilia and thrombosis: a study in a single centre.

S E Lawson1, D Butler, M S Enayat, M D Williams.   

Abstract

AIM: To identify the incidence of congenital thrombophilia in a cohort of children presenting with symptomatic thromboembolism.
METHOD: A review of children with thromboembolism investigated for thrombophilia over a 12 month period.
SUBJECTS: Thirty children with thromboembolic episodes and 16 of their family members. MEASUREMENTS AND DATA COLLECTION: Data were collected on age at diagnosis, underlying diagnosis, site of thrombosis, associated precipitating factors, occurrence of other thromboembolic events, and family history. Investigations included measurement of protein C activity, total and free protein S antigen, antithrombin III activity, screening for factor V Leiden and prothrombin 20210A, urinary homocysteine estimation, and a screen for lupus anticoagulant.
RESULTS: Twenty seven of 30 patients had one or more risk factors present at the time of thromboembolism. Eighty three per cent had acquired precipitating factors present, and 43% had underlying congenital thrombophilia.
CONCLUSIONS: There was a high incidence of congenital thrombophilia in this group of patients with symptomatic thromboembolism. These findings emphasise the importance of such defects in the pathogenesis of childhood thrombosis, and suggest that full thrombophilia investigations should be performed on all children presenting with thromboembolic disease.

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Mesh:

Year:  1999        PMID: 10490533      PMCID: PMC1718022          DOI: 10.1136/adc.81.2.176

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN: 0003-9888            Impact factor:   3.791


  19 in total

1.  The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families.

Authors:  B Zoller; P J Svensson; B Dahlback; A Hillarp
Journal:  Blood       Date:  1998-03-15       Impact factor: 22.113

2.  Thrombosis in otherwise well children with the factor V Leiden mutation.

Authors:  M T Sifontes; R Nuss; L J Jacobson; J H Griffin; M J Manco-Johnson
Journal:  J Pediatr       Date:  1996-03       Impact factor: 4.406

Review 3.  Venous thromboembolic complications in children.

Authors:  M David; M Andrew
Journal:  J Pediatr       Date:  1993-09       Impact factor: 4.406

4.  Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency.

Authors:  H H van Boven; P H Reitsma; F R Rosendaal; T A Bayston; V Chowdhury; K A Bauer; I Scharrer; J Conard; D A Lane
Journal:  Thromb Haemost       Date:  1996-03       Impact factor: 5.249

5.  Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.

Authors:  B P Koeleman; P H Reitsma; C F Allaart; R M Bertina
Journal:  Blood       Date:  1994-08-15       Impact factor: 22.113

6.  Maturation of the hemostatic system during childhood.

Authors:  M Andrew; P Vegh; M Johnston; J Bowker; F Ofosu; L Mitchell
Journal:  Blood       Date:  1992-10-15       Impact factor: 22.113

7.  Incidence of activated protein C resistance caused by the ARG 506 GLN mutation in factor V in 113 unrelated symptomatic protein C-deficient patients. The French Network on the behalf of INSERM.

Authors:  S Gandrille; J S Greengard; M Alhenc-Gelas; I Juhan-Vague; J F Abgrall; B Jude; J H Griffin; M Aiach
Journal:  Blood       Date:  1995-07-01       Impact factor: 22.113

8.  Venous thromboembolic complications (VTE) in children: first analyses of the Canadian Registry of VTE.

Authors:  M Andrew; M David; M Adams; K Ali; R Anderson; D Barnard; M Bernstein; L Brisson; B Cairney; D DeSai
Journal:  Blood       Date:  1994-03-01       Impact factor: 22.113

9.  Childhood thrombosis.

Authors:  R Nuss; T Hays; M Manco-Johnson
Journal:  Pediatrics       Date:  1995-08       Impact factor: 7.124

10.  Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S.

Authors:  B Zöller; A Berntsdotter; P García de Frutos; B Dahlbäck
Journal:  Blood       Date:  1995-06-15       Impact factor: 22.113

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  2 in total

1.  Risk factors for thrombophilia in young adults presenting with thrombosis.

Authors:  Osman Yokus; Murat Albayrak; Ozlem Sahin Balcik; Funda Ceran; Simten Dagdas; Mesude Yilmaz; Gulsum Ozet
Journal:  Int J Hematol       Date:  2009-11-25       Impact factor: 2.490

2.  Perinatal renal venous thrombosis: presenting renal length predicts outcome.

Authors:  P J D Winyard; T Bharucha; R De Bruyn; M J Dillon; W van't Hoff; R S Trompeter; R Liesner; A Wade; L Rees
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2006-02-07       Impact factor: 5.747

  2 in total

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