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[A Japanese family with congenital abnormal plasminogen]
H Hosomi1, Y Honma, K Shimomura
1Department of Clinical Laboratory, Kyoto First Red Cross Hospital.
Rinsho Byori. the Japanese Journal of Clinical Pathology
|March 1, 1995
Summary
Congenital abnormal plasminogen, a genetic condition affecting plasminogen (PLG) activity, was identified in a Japanese family. Despite a homozygous deficiency, the patient did not experience thrombosis due to normal anticoagulation processes.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Congenital plasminogen deficiency is a rare inherited disorder affecting blood coagulation and fibrinolysis.
- This study investigates a Japanese family with a suspected genetic defect in plasminogen.
Observation:
- A 44-year-old male patient presented with reduced plasminogen (PLG) activity before surgery.
- Laboratory tests revealed significantly low PLG activity in the patient and his sister (homozygotes), and intermediate levels in his father and nephews (heterozygotes).
- Plasminogen antigen levels were normal, but isoelectric focusing (IEF) showed distinct abnormal patterns, confirming a congenital abnormal plasminogen.
Findings:
- The proband and his sister are homozygotes, while the father and nephews are heterozygotes for abnormal plasminogen.
- Post-operative inflammatory markers and plasmin-alpha 2-plasmin inhibitor complex (PIC) levels increased, as expected.
- Crucially, the patient, despite being a plasminogen homozygote, did not develop thrombosis after surgery.
Implications:
- This case highlights that severe congenital abnormal plasminogen (homozygous state) may not invariably lead to thrombosis.
- Normal anticoagulation mechanisms appear to compensate for reduced plasminogen function, preventing thrombotic events.
- Further research is warranted to elucidate the interplay between plasminogen function and thrombotic risk in individuals with genetic plasminogen abnormalities.