Abnormal plasminogen: a genetically determined cause of hypercoagulability.

Area of Science:

• Hematology
• Genetics
• Molecular Biology

Background:

• The fibrinolytic system is crucial for dissolving blood clots.
• Disruptions in fibrinolysis can lead to thrombotic disorders.
• Unexplained thrombosis necessitates investigation into underlying causes.

Purpose of the Study:

• To identify the cause of unusual clotting in patients with unexplained thrombosis.
• To characterize the nature of the identified abnormality in the fibrinolytic system.
• To determine the inheritance pattern of this disorder.

Main Methods:

• Immunoelectrophoresis was used to detect abnormal plasminogen in patient serum.
• Analysis of patient family members was conducted to assess inheritance.
• Clinical presentation and thrombotic episodes were documented.

Main Results:

• Eight patients with unexplained thrombosis were found to have abnormal immunoreactive plasminogen.
• Abnormal plasminogen presented as a distinct band on immunoelectrophoresis.
• Autosomal dominant inheritance was suggested by family studies.
• Recurrent arterial and venous thrombosis was observed in affected individuals.

Conclusions:

• A genetically determined plasminogen variant causes a functional deficiency in the fibrinolytic system.
• This deficiency leads to reduced fibrinolytic activity and a latent thrombotic tendency.
• Long-term warfarin anticoagulation is recommended for managing this inherited thrombotic disorder.