A rare genetic disorder that inhibits coagulation due to the production of defective fibrinogen. In most cases, it is autosomal dominantly inherited. The majority of cases are asymptomatic and require no treatment. Symptomatic cases can present with multiple prolonged bleeding events, bleeding diathesis, pulmonary embolism, thrombosis, thromboembolic events, poor wound healing, and increased rates of spontaneous abortion. Tests positive for prolonged thrombin time and reptilase time may aid diagnosis. Treatment includes fibrinogen replacement therapy.
Dysfibrinogenemia can also be acquired.
Congenital dysfibrinogenemia
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Synopsis
Codes
ICD10CM:
D68.2 – Hereditary deficiency of other clotting factors
SNOMEDCT:
45366001 – Hereditary dysfibrinogenemia
D68.2 – Hereditary deficiency of other clotting factors
SNOMEDCT:
45366001 – Hereditary dysfibrinogenemia
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Last Updated:01/12/2022
Congenital dysfibrinogenemia