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Familial primary cryofibrinogenemia.

A J van Geest1, R J van Dooren-Greebe, M P Andriessen

  • 1Department of Dermatology, TweeSteden Hospital, Tilburg, The Netherlands.

Journal of the European Academy of Dermatology and Venereology : JEADV
|April 3, 1999
PubMed
Summary

This study describes a rare familial primary cryofibrinogenemia (CFG) case, presenting with painful purpura and edema after cold exposure. Early diagnosis and family history are crucial for this inherited blood disorder.

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Area of Science:

  • Hematology
  • Genetics
  • Vascular Medicine

Background:

  • Familial primary cryofibrinogenemia (CFG) is an exceptionally rare inherited plasma protein disorder.
  • This report details the second known case of familial primary CFG, highlighting its genetic basis.

Observation:

  • A 29-year-old female and two of her children presented with recurrent, seasonal painful purpura, edema, and slow-healing ulcers on their feet.
  • Symptoms were consistently triggered by cold exposure, particularly during winter months.

Findings:

  • Blood plasma analysis confirmed the presence of cryofibrinogen precipitates in all affected family members.
  • Extensive investigations ruled out secondary causes of CFG and other associated diseases.

Implications:

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  • The findings underscore the importance of considering CFG in patients exhibiting cold-induced vascular symptoms like livedo reticularis and purpura.
  • A thorough family history is essential for diagnosing primary CFG, suggesting an autosomal dominant inheritance pattern.
  • Distinguishing primary CFG from more common secondary forms requires comprehensive medical evaluation to rule out underlying conditions.