[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment]

Area of Science:

• Hematology
• Clinical Genetics
• Molecular Diagnostics

Background:

• Congenital dysfibrinogenemia (CDF) is the most prevalent inherited fibrinogen disorder, marked by functionally impaired fibrinogen.
• Its prevalence is likely underestimated due to asymptomatic cases and lack of specific diagnostic criteria.
• Clinical manifestations range from bleeding to thrombotic events and pregnancy complications.

Purpose of the Study:

• To review the current understanding of congenital dysfibrinogenemia.
• To highlight diagnostic challenges and clinical management considerations.
• To emphasize the need for further research and improved patient stratification.

Main Methods:

• Review of existing literature on congenital dysfibrinogenemia.
• Analysis of diagnostic approaches including fibrinogen antigen assays and genetic testing.
• Discussion of clinical presentations and management strategies.

Main Results:

• CDF presents with diverse clinical phenotypes, including bleeding, thrombosis, and obstetric complications.
• Distinguishing CDF from other inherited fibrinogen abnormalities relies on fibrinogen antigen levels and family studies.
• Current laboratory methods lack routine predictive power for bleeding or thrombotic risk.

Conclusions:

• Accurate diagnosis and risk stratification for congenital dysfibrinogenemia remain challenging.
• Personal and family history are crucial but insufficient for predicting patient outcomes.
• Prospective and registry-based studies are essential for advancing the clinical management of CDF.