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Thrombovascular disease and familial plasminogen deficiency: a report of three kindreds
1University Department of Haematology, Royal Hallamshire Hospital, Sheffield.
Insights
Plasminogen deficiency, a condition marked by low plasminogen levels, is linked to an increased risk of thrombosis. This autosomal dominant condition shows variable penetrance, with some individuals remaining asymptomatic.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Plasminogen deficiency is a rare inherited disorder affecting blood clot breakdown.
- Type I deficiency, characterized by low functional and immunological plasminogen levels, is investigated here.
Observation:
- Three kindreds and one additional subject with plasminogen deficiency were studied.
- Propositi presented with venous thrombotic disease or stroke.
- Asymptomatic family members with low plasminogen levels were identified, suggesting variable penetrance.
Findings:
- The pattern of inheritance for plasminogen deficiency appears to be autosomal dominant.
- Plasminogen levels can fluctuate, increasing during pregnancy and returning to baseline postpartum.
- No thrombotic events were observed in eight pregnancies among affected individuals.
Implications:
- Understanding plasminogen deficiency is crucial for diagnosing and managing thrombotic risks.
- The autosomal dominant inheritance pattern and variable penetrance have implications for genetic counseling.
- Pregnancy in women with plasminogen deficiency may not necessarily increase thrombotic risk.
Abstract:
We report three kindreds in whom plasminogen deficiency was associated with thrombosis and in whom the ratio of functional and immunological values of plasminogen was consistent with type I deficiency. An additional subject with plasminogen deficiency is also described. The three propositi presented with venous thrombotic disease. The fourth subject presented with a thrombotic stroke. Investigation of family members in three of these four cases revealed other subjects who were found to have low levels of plasminogen and who were asymptomatic. The pattern of inheritance appears to be autosomal dominant. In one woman, plasminogen levels were shown to rise to within the normal range during pregnancy and returned to low levels after delivery. A total of eight pregnancies were reviewed in our series and no thrombotic events occurred.