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Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1998 Oct;65(4):508–511. doi: 10.1136/jnnp.65.4.508

Inherited prothrombotic states and ischaemic stroke in childhood

V Ganesan 1, M McShane 1, R Liesner 1, J Cookson 1, I Hann 1, F Kirkham 1
PMCID: PMC2170314  PMID: 9771774

Abstract

OBJECTIVE—To investigate the prevalence of currently recognised inherited prothrombotic states in a population of children with arterial stroke.
METHODS—Children with arterial stroke presenting to a tertiary level paediatric neurology centre between 1990 and 1996 were investigated for inherited prothrombotic states.
RESULTS—Sixty seven children with arterial stroke were investigated. Abnormalities were initially identified in 16 patients; however, only eight children (12%) had an inherited prothrombotic state. This was type 1 protein S deficiency in one patient, the factor V Leiden mutation in six, and activated protein C resistance (without the factor V Leiden mutation) in one. The prevalence of the factor V Leiden mutation was not significantly higher in children with arterial stroke (12%) than in a control population of children without thrombosis attending the same institution (5.2%; Fisher's exact test, p=0.19; difference in prevalence between patients and controls (95% confidence interval)=6.8% (−2.78% to 16.8%)).
CONCLUSIONS—Currently recognised inherited prothrombotic tendencies were rarely associated with stroke in this group of children, although larger numbers of patients would be needed to confirm this. Age appropriate normal values should be used when interpreting the results of a prothrombotic screen. Prothrombotic abnormalities seen acutely are as often transient as inherited. Longitudinal assessment and family studies are required before low concentrations of an anticoagulant protein found acutely can be attributed to an inherited abnormality.



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Selected References

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  1. Andrew M., Vegh P., Johnston M., Bowker J., Ofosu F., Mitchell L. Maturation of the hemostatic system during childhood. Blood. 1992 Oct 15;80(8):1998–2005. [PubMed] [Google Scholar]
  2. Barinagarrementeria F., Cantú-Brito C., De La Peña A., Izaguirre R. Prothrombotic states in young people with idiopathic stroke. A prospective study. Stroke. 1994 Feb;25(2):287–290. doi: 10.1161/01.str.25.2.287. [DOI] [PubMed] [Google Scholar]
  3. Beauchamp N. J., Daly M. E., Cooper P. C., Preston F. E., Peake I. R. Rapid two-stage PCR for detecting factor V G1691A mutation. Lancet. 1994 Sep 3;344(8923):694–695. doi: 10.1016/s0140-6736(94)92136-9. [DOI] [PubMed] [Google Scholar]
  4. De Stefano V., Finazzi G., Mannucci P. M. Inherited thrombophilia: pathogenesis, clinical syndromes, and management. Blood. 1996 May 1;87(9):3531–3544. [PubMed] [Google Scholar]
  5. Dusser A., Boyer-Neumann C., Wolf M. Temporary protein C deficiency associated with cerebral arterial thrombosis in childhood. J Pediatr. 1988 Nov;113(5):849–851. doi: 10.1016/s0022-3476(88)80014-3. [DOI] [PubMed] [Google Scholar]
  6. Halbmayer W. M., Haushofer A., Schön R., Fischer M. The prevalence of poor anticoagulant response to activated protein C (APC resistance) among patients suffering from stroke or venous thrombosis and among healthy subjects. Blood Coagul Fibrinolysis. 1994 Feb;5(1):51–57. doi: 10.1097/00001721-199402000-00008. [DOI] [PubMed] [Google Scholar]
  7. Israels S. J., Seshia S. S. Childhood stroke associated with protein C or S deficiency. J Pediatr. 1987 Oct;111(4):562–564. doi: 10.1016/s0022-3476(87)80122-1. [DOI] [PubMed] [Google Scholar]
  8. Kennedy C. R., Warner G., Kai M., Chisholm M. Protein C deficiency and stroke in early life. Dev Med Child Neurol. 1995 Aug;37(8):723–730. doi: 10.1111/j.1469-8749.1995.tb15018.x. [DOI] [PubMed] [Google Scholar]
  9. Mandel H., Brenner B., Berant M., Rosenberg N., Lanir N., Jakobs C., Fowler B., Seligsohn U. Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosis. N Engl J Med. 1996 Mar 21;334(12):763–768. doi: 10.1056/NEJM199603213341204. [DOI] [PubMed] [Google Scholar]
  10. Martinelli I., Landi G., Merati G., Cella R., Tosetto A., Mannucci P. M. Factor V gene mutation is a risk factor for cerebral venous thrombosis. Thromb Haemost. 1996 Mar;75(3):393–394. [PubMed] [Google Scholar]
  11. Nowak-Göttl U., Sträter R., Dübbers A., Oleszuk-Raschke K., Vielhaber H. Ischaemic stroke in infancy and childhood: role of the Arg506 to Gln mutation in the factor V gene. Blood Coagul Fibrinolysis. 1996 Oct;7(7):684–688. [PubMed] [Google Scholar]
  12. Press R. D., Liu X. Y., Beamer N., Coull B. M. Ischemic stroke in the elderly. Role of the common factor V mutation causing resistance to activated protein C. Stroke. 1996 Jan;27(1):44–48. doi: 10.1161/01.str.27.1.44. [DOI] [PubMed] [Google Scholar]
  13. Rees D. C., Cox M., Clegg J. B. World distribution of factor V Leiden. Lancet. 1995 Oct 28;346(8983):1133–1134. doi: 10.1016/s0140-6736(95)91803-5. [DOI] [PubMed] [Google Scholar]
  14. Ridker P. M., Hennekens C. H., Lindpaintner K., Stampfer M. J., Eisenberg P. R., Miletich J. P. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995 Apr 6;332(14):912–917. doi: 10.1056/NEJM199504063321403. [DOI] [PubMed] [Google Scholar]
  15. Simioni P., de Ronde H., Prandoni P., Saladini M., Bertina R. M., Girolami A. Ischemic stroke in young patients with activated protein C resistance. A report of three cases belonging to three different kindreds. Stroke. 1995 May;26(5):885–890. doi: 10.1161/01.str.26.5.885. [DOI] [PubMed] [Google Scholar]
  16. Thorarensen O., Ryan S., Hunter J., Younkin D. P. Factor V Leiden mutation: an unrecognized cause of hemiplegic cerebral palsy, neonatal stroke, and placental thrombosis. Ann Neurol. 1997 Sep;42(3):372–375. doi: 10.1002/ana.410420316. [DOI] [PubMed] [Google Scholar]
  17. Vomberg P. P., Breederveld C., Fleury P., Arts W. F. Cerebral thromboembolism due to antithrombin III deficiency in two children. Neuropediatrics. 1987 Feb;18(1):42–44. doi: 10.1055/s-2008-1052434. [DOI] [PubMed] [Google Scholar]

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