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Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations

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Abstract

Although thrombosis is relatively rare in children, reports of young patients with thrombosis are becoming more frequent with time. Activated protein C resistance and prothrombin 20210 A mutation are results of point mutations described in the last decade. This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations. The patient diagnosed with purpura fulminans was an 8-year-old boy who was referred to our hospital with purpuric lesions on the extremities and necrosis of the penis. We believe that the coexistence of more than one thrombophilic mutation contributed to the occurrence of severe thrombosis at a young age in this patient.

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References

  1. Andrew M, Montgomery RR (1998) Acquired disorders of hemostasis. In: Nathan DG, Orkin SH (eds) Nathan and Oski's hematology of infancy and childhood, vol 2. Saunders, Philadelphia, pp 1678–1717

  2. David M, Andrew M (1993) Venous thromboembolism complications in children: a critical review of the literature. J Pediatr 123:337–346

    Article  CAS  PubMed  Google Scholar 

  3. Gürgey A, Mesci L (1997) The prevalence of factor V Leiden (1691 G––>A) mutation in Turkey. Turk J Pediatr 39:313–315

    Google Scholar 

  4. Akar N, Mısırlıoğlu M, Akar E, Avcu F, Yalçın A, Sözüöz A (1998) Prothrombin gene 20210 G–A mutation in the Turkish population. Am J Hematol 58:249

    Article  CAS  PubMed  Google Scholar 

  5. Özbek N, Tokel NK, Kayıran SM (1999) Inherited combined deficiency of proteins C and S. Eur J Haematol 63:138–139

    Article  PubMed  Google Scholar 

  6. Stefano VD, Zappacosta B, Persichilli S, Rossi E, Casorelli I, Paciaroni K, Chiusolo P, Leone AM, Giardina B, Leone G (1999) Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease. Br J Haematol 106:564–568

    Article  PubMed  Google Scholar 

  7. Kowa H, Yasui K, Takeshima T, Urakami K, Sakai F, Nakashima K (2000) The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine. Am J Med Genet 96:762–764

    Article  CAS  PubMed  Google Scholar 

  8. Bavikatty NR, Killeen AA, Akel N, Normolle D, Schaimer AH (2000) Association of the prothrombin G20210A mutation with factor V Leiden in a midwestern American population. Am J Clin Pathol 114:272–275

    Article  CAS  PubMed  Google Scholar 

  9. Friedline JA, Ahmad E, Garcia D, Blue D, Ceniza N, Mattson JC, Crisan D (2001) Combined factor V Leiden and prothrombin genotyping in patients with thromboembolic episodes. Arch Pathol Lab Med 125:105–111

    CAS  PubMed  Google Scholar 

  10. Beardsley DS, Nathan DG (1998) Platelet abnormalities in infancy and childhood. In: Nathan DG, Orkin SH (eds) Nathan and Oski's hematology of infancy and childhood, vol 2. Saunders, Philadelphia, pp 1586–1630

  11. Gürgey A (1999) Clinical manifestations in thrombotic children with factor V Leiden mutation. Pediatr Hematol Oncol 16:233–237

    Article  Google Scholar 

  12. Inbal A, Kenet G, Zivelin A, Yermiyahu T, Bronstein T, Sheinfeld T, Tamari H, Gitel S, Eshel G, Duchemin J, Aiach M, Seligsohn U (1997) Purpura fulminans induced by disseminated intravascular coagulation following infection in 2 unrelated children with double heterozygosity for factor V Leiden and protein S deficiency. Thromb Haemost 77:1086–1089

    CAS  PubMed  Google Scholar 

  13. Al-Ismail S, Collins P, Najib R, James-Ellison M, O'Hagan M (1999) Postinfection purpura fulminans in a patient heterozygous for prothrombin G20210A and acquired protein S resistance. Pediatr Hematol Oncol 16:561–564

    Article  CAS  PubMed  Google Scholar 

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Correspondence to N. Özbek.

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Özbek, N., Ataç, F.B., Verdi, H. et al. Purpura fulminans in a child with combined heterozygous prothrombin G20210A and factor V Leiden mutations. Ann Hematol 82, 118–120 (2003). https://doi.org/10.1007/s00277-003-0613-5

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  • DOI: https://doi.org/10.1007/s00277-003-0613-5

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