Other Coagulation Factor Deficiencies

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Clotting

  • Factor XI deficiency: mainly found in Ashkenazi Jews, recessive inheritance. Homozygotes <5% levels of factor XI. Factor XI concentrate given.
  • Factor VII deficiency: autosomal recessive, variable bleeding severity, risk of CNS haematoma. Diagnosis by factor VII assay, treatment with recombinant factor VII
  • Factor V deficiency: treated with virally inactivated fresh frozen plasma
  • Factor XIII deficiency: severe haemorrhagic tendency, poor healing (profuse bleeding from umbilical cord). Clots soluble in urea (failure of cross-linking). Factor XIII concentrate given.
  • Fibrinogen: abnormalities may be quantitative (apofibrinogennaemia and hypofibrinogenaemia) or qualitative (dysfbrinogenaemia).
  • Apofibrinogennaemia: autosomal recessive, failure to clot in any test of coagulation, severe bleeding tendency
  • Dysfibrinogenaemia: rare group of autosomal dominant conditions, haemorrhagic or thrombotic states

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Dr Tom Leach

Dr Tom Leach MBChB DCH EMCert(ACEM) FRACGP currently works as a GP and an Emergency Department CMO in Australia. He is also a Clinical Associate Lecturer at the Australian National University, and is studying for a Masters of Sports Medicine at the University of Queensland. After graduating from his medical degree at the University of Manchester in 2011, Tom completed his Foundation Training at Bolton Royal Hospital, before moving to Australia in 2013. He started almostadoctor whilst a third year medical student in 2009. Read full bio

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