Congenital fibrinogen disorders with repeated thrombosis

J Thromb Thrombolysis. 2020 Feb;49(2):312-315. doi: 10.1007/s11239-019-01958-y.

Abstract

Congenital dysfibrinogenemia is characterized with undetectable or low fibrinogen level by Clauss assay complicated by bleeding and/or thrombosis. These may lead to a diagnostic problem to some clinicians unfamiliar with this disease. We reported a case of congenital dysfibrinogenemia manifested as hemorrhage, repeated thrombosis, low fibrinogen levels through Clauss assay and but normal levels of fibrinogen through PT-derived tests. In conclusion, to patients with thrombosis complicated by decreased fibrinogen level, clinicians and laboratory physicians should be alert to the possibility of congenital dysfibrinogenemia.

Keywords: Congenital dysfibrinogenemia; Congenital fibrinogen disorders; Fibrinogen; Thrombosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Afibrinogenemia / blood*
  • Afibrinogenemia / complications
  • Afibrinogenemia / diagnosis*
  • Blood Coagulation Tests / methods
  • Fibrinogens, Abnormal / genetics
  • Fibrinogens, Abnormal / metabolism
  • Humans
  • Male
  • Thrombosis / blood*
  • Thrombosis / diagnosis*
  • Thrombosis / etiology

Substances

  • Fibrinogens, Abnormal

Supplementary concepts

  • Dysfibrinogenemia, Congenital