A case of prekallikrein deficiency resulting in severe recurrent mucosal hemorrhage

Am J Med Sci. 2009 Nov;338(5):429-30. doi: 10.1097/MAJ.0b013e3181b270bb.

Abstract

Although most cases of prekallikrein deficiency are asymptomatic, a few reports link severe prekallikrein deficiency with thrombotic phenomena and recurrent pregnancy loss. Here, we present a case of a Jamaican female patient with prekallikrein deficiency, associated with a severe bleeding diathesis. A low level of plasma prekallikrein activity, along with the presence of C529Y mutation, confirmed the diagnosis in our patient. Some animals with prekallikrein deficiency were shown to have moderate bleeding tendencies. Furthermore, the first patient with prekallikrein deficiency from the African continent was a young child who presented with severe, hemophilia-like bleeding, featuring recurrent hemarthrosis and subcutaneous hematomas. We find it intriguing that our patient is of African heritage and presented with a moderate nasal bleeding tendency in her youth, followed by severe recurrent mucosal bleeding later in life.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Blood Coagulation
  • Epistaxis / blood
  • Epistaxis / etiology*
  • Epistaxis / genetics
  • Female
  • Humans
  • Partial Thromboplastin Time
  • Point Mutation
  • Prekallikrein / deficiency*
  • Prekallikrein / genetics
  • Recurrence
  • Severity of Illness Index

Substances

  • Prekallikrein