Related Experiment Videos
[Congenital thrombophilia caused by protein C deficiency]
Insights
Congenital protein C deficiency, found in 1 in 500 individuals, is linked to an increased risk of arterial occlusive diseases. This study highlights its contribution to the early onset of conditions like heart attack and stroke in Japanese subjects.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Hematology
Background:
- Protein C deficiency is known to predispose individuals to venous thrombosis.
- Its role in arterial occlusion remains less understood.
- Understanding genetic factors is crucial for cardiovascular risk assessment.
Purpose of the Study:
- To determine the prevalence of protein C deficiency in patients with cardiovascular issues.
- To investigate the association between protein C deficiency and arterial occlusive diseases.
- To identify common genetic defects in Japanese families with protein C deficiency.
Main Methods:
- Screened approximately 26,800 patients to identify protein C deficiency.
- Conducted genetic analysis on 67 Japanese families.
- Compared the onset age of arterial occlusive disease in protein C deficient patients versus controls.
Main Results:
- Identified protein C deficiency in 1 in 500 patients.
- Found recurrent genetic defects (Phe139Val, Arg169Trp, Val297Met, Met364Ile, G8857 deletion) in 49% of Japanese families.
- Observed an earlier onset of acute myocardial infarction and atherothrombotic cerebral infarction in protein C deficient patients.
Conclusions:
- Congenital protein C deficiency is a significant risk factor for early-onset arterial occlusive diseases.
- Specific genetic defects in protein C may have a founder effect in the Japanese population.
- This deficiency should be considered in the evaluation of premature arterial thrombosis.
Abstract:
To clarify the prevalence of protein C deficiency in patients with cardiovascular problems, we identified 54 patients with protein C deficiency by screening approximately 26,800 patients. The observed prevalence of protein C deficiency was 1 in 500. From the results of genetic analysis of 67 Japanese families with protein C deficiency, the recurrent defects of Phe139Val, Arg169Trp, Val297Met, Met364Ile substitutions and a G8857 deletion were accounting 49% of Japanese families with protein C deficiency. The defects including Phe139Val and Met364Ile substitutions and a G8857 deletion were only found in Japanese subjects and seemed to be a founder effect. Protein C deficiency is associated with a predisposition to venous thrombosis. It is not clear whether the deficiency is involved in arterial occlusion. We identified 34 patients with protein C deficiency manifested 45 episodes of arterial occlusive disease. We compared the onset age of arterial occlusive disease between patients with protein C deficiency and a group of patients with normal protein C levels. We found the early onset of acute myocardial infarction and atherothrombotic cerebral infarction in patients with protein C deficiency. Thus, our study suggests that congenital protein C deficiency contributes to earlier onset of arterial occlusive diseases in Japanese subjects.