Skip to main content

Deep Venous Thrombosis of the Lower Extremity in a 16-Year-Old Girl with Homozygous MTHFR- and Heterozygous Factor V Leiden-Mutation

  • Conference paper
33rd Hemophilia Symposium
  • 105 Accesses

Abstract

Although relatively rare,thromboembolic complications do occur in pediatric patients [1] and cause significant morbidity with occasional mortality.Venous thrombosis is a multicausal disease involving acquired and genetic factors. The pediatric patient with thrombosis has an average of two and some of four or more predisposing and triggering prothrombotic factors [2]. Genetic abnormalities of antithrombin, protein C, protein S, factor V G1691A, prothrombin G20210A and elevated lipoprotein(a) concentration have been reported in children with venous thrombosis [35].

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 39.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 54.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Andrew M, David M, Adams M. Venous thromboembolic complications (VTE) in children: first analyses of the Canadian registry of VTE. Blood 1994; 83: 1251–7

    PubMed  CAS  Google Scholar 

  2. Nowak-Göttl U, Kosch A, Schlegel N. Thromboembolism in neonates, infants, and children. Thromb Haemost 2001; 86: 464–7

    PubMed  Google Scholar 

  3. Ehrenforth S, Junker R, Koch HG, Kreuz W, Münchow N, Scharrer I, Nowak-Göttl U. Multicentre evaluation of combined prothrombotic defects with thrombophilia in childhood. Eur J Pediatr 1999; 158: S97–104

    Article  PubMed  Google Scholar 

  4. Nuss R, Hays T, Manco-Johnson M. Childhood thrombosis. Pediatrics 1995; 96: 291–4

    PubMed  CAS  Google Scholar 

  5. Bonduel M, Hepner M, Sciuccati G, Torres AF, Pieroni G, Frontroth JP. Prothrombotic abnor-malities in children with venous thromboembolism. J Pediatr Hematol Oncol 2000; 22: 66–72

    Article  PubMed  CAS  Google Scholar 

  6. Arruda VR, von Zuben PM, Chiaparini LC, Annichino-Bizzacchi JM, Costa FF. The mutation Ala677 Val in the methylene tetrahydrofolate reductase gene: a risk factor arterial disease and venous thrombosis. Thromb Haemost 1997; 77: 818–21

    PubMed  CAS  Google Scholar 

  7. Hainaut P, Jaumotte C, Verhelst D, Wallemacq P, Gala JL, Lavenne E et al. Hyperhomocysteinemia and venous thromboembolism: a risk factor more prevalent in the elderly and in idiopathic cases. Thromb Res 2002; 106: 121–5

    Article  PubMed  CAS  Google Scholar 

  8. Keijzer MB, Den Heijer M, Blom HJ, Bos GM, Willems HP, Gerrits WB, Rosendaal FR. Interaction between hyperhomocysteinemia, mutated methylentetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. Thromb Haemost 2002; 88: 723–8

    PubMed  CAS  Google Scholar 

  9. Salomon O, Steinberg DM, Zivelin A, Gitel S, Dardik R, Rosenberg N, Berliner S, Inbal A. Single and combined prothrombotic factors in patients with idiopathic venous thromboem-bolism — prevalence and risk assessment. Arteriol Thromb Vasc Biol 1999; 19: 511–8

    Article  CAS  Google Scholar 

  10. Falcon CR, Cattaneo M, Panzeri D, Martinelli I, Mannucci PM. High prevalence of hyper-homocyst(e)inemia in patients with juvenile venous thrombosis. Arterioscler Thromb 1994; 14: 1080–3

    Article  PubMed  CAS  Google Scholar 

  11. Den Heijer M, Blom HJ, Gerrits WBJ, Rosendaal FR, Haak HL, Wijermans PW, Bos GMJ. Is hyperhomocysteinemia a risk factor for recurrent venous thrombosis? Lancet 1995; 345: 882–5

    Article  Google Scholar 

  12. Koch HG, Nabel P, Junker R, Auberger K, Schobess R, Homberger A, Linnebank M, Nowak-Göttl U. The 677T genotype of the common MTHFR thermolabile variant and fasting homocysteine in childhood venous thrombosis. Eur J Pediatr 1999; 158: S113–6

    Article  PubMed  CAS  Google Scholar 

  13. Grow JL, Fliman PJ, Pipe SW. Neonatal sinovenous thrombosis associated with homozygous thermolabile methylene tetrahydrofolate reductase in both mother and infant. J Perinat 2002; 22: 175–8

    Article  Google Scholar 

  14. Alhenc-Gelas M, Arnoud E, Nicaud V, Aubry ML, Fiessinger JN, Aich M, Emmerich J. Venous thromboembolic disease and the prothrombin, methylene tetrahydrofolate reduc-tase and factor V genes. Thromb Haemost 1999; 81: 506–10

    PubMed  CAS  Google Scholar 

  15. Kluijtmans LA, Den Heijer M, Reitsma PH, Heil SG, Blom HJ, Rosendaal FR. Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep vein throm-bosis. Thromb Haemost 79: 254–8

    Google Scholar 

  16. Rintelen C, Mannhalter C, Lechner K, Eichinger S, Kyrle PA, Papagiannopolos M, Schneider B, Pabinger I. No evidence for an increased risk of venous thrombosis in patients with fac-tor V Leiden by the 677C to T mutation in the methylene tetrahydrofolate-reductase gene. Blood Coagul + Fibrinol 1999; 10: 101–5

    Article  CAS  Google Scholar 

  17. Manco-Johnson MJ, Grabowski EF, Hellgreen M, Kemahli AS, Massicotte MP, Muntean W, Peters M, Nowak-Göttl U. Laboratory testing for thrombophilia in pediatric patients. Thromb Haemost 2002; 88: 155–6

    PubMed  CAS  Google Scholar 

Download references

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer-Verlag Berlin Heidelberg

About this paper

Cite this paper

Roschitz, B., Muntean, W., Mannhalter, C., Koestenberger, M. (2004). Deep Venous Thrombosis of the Lower Extremity in a 16-Year-Old Girl with Homozygous MTHFR- and Heterozygous Factor V Leiden-Mutation. In: Scharrer, I., Schramm, W. (eds) 33rd Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-18260-0_25

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-18260-0_25

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-00902-3

  • Online ISBN: 978-3-642-18260-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics