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[Thrombosis in a probable double heterozygote young man from an asymptomatic family with protein C deficiency and
D A Tsakiris1, G A Marbet, B Zbinden
1Department für Innere Medizin, Kantonsspital Basel.
Schweizerische Medizinische Wochenschrift
|October 29, 1988
Insights
A family presented with combined protein C deficiency, a rare genetic disorder. The study highlights a young individual experiencing deep vein thrombosis due to this deficiency.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Protein C deficiency is a rare inherited thrombophilia.
- It can be quantitative (reduced amount) or qualitative (reduced function).
- Combined deficiencies present unique clinical challenges.
Observation:
- A family exhibited combined quantitative and qualitative protein C deficiency.
- The proband, a likely double heterozygote, had only 7% residual protein C activity.
- This individual experienced deep leg vein thrombosis at age 17.
Findings:
- The proband's severe protein C deficiency correlated with a thrombotic event.
- Other family members with the deficiency remained asymptomatic, suggesting modifying factors.
- Genetic analysis is crucial for identifying double heterozygotes.
Implications:
- Early diagnosis and management of protein C deficiency are vital.
- Understanding genotype-phenotype correlations aids in risk assessment.
- Further research into genetic modifiers could improve patient outcomes.
Abstract:
A family with combined quantitative and qualitative protein C deficiency is presented. The probably double heterozygote propositus with 7% residual amidolytic protein C activity had deep leg vein thrombosis at the age of seventeen. Other family members were asymptomatic.