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Congenital dysfibrinogenemia
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Congenital dysfibrinogenemia

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Contributors: David Sullo MD
Other Resources UpToDate PubMed

Synopsis

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.

For more information, see OMIM.

Dysfibrinogenemia can also be acquired.

Codes

ICD10CM:
D68.2 – Hereditary deficiency of other clotting factors

SNOMEDCT:
45366001 – Hereditary dysfibrinogenemia

Differential Diagnosis & Pitfalls

Differential depends on whether the patient is suspected of a thrombotic variant or a hemorrhagic variant.

Thrombotic variant:
Hemorrhagic variant:

Best Tests

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References

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Last Updated: 03/29/2017
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Congenital dysfibrinogenemia
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Congenital dysfibrinogenemia : Bleeding time prolonged, Easy bruising, Epistaxis, Menorrhagia, PT prolonged
Copyright © 2020 VisualDx®. All rights reserved.