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[Recurrent thromboembolism disclosing protein C deficiency. Apropos of a case with familial investigation]
F Jonot1, E Pouchelon, J P Cambus
1Service de Pneumologie et Allergologie, CHU Rangueil, Toulouse.
Insights
Protein C deficiency is a significant cause of thromboembolic events, particularly in young adults. Early diagnosis and anticoagulant therapy are crucial for favorable outcomes and preventing future clots.
Area of Science:
- Hematology
- Genetics
Background:
- Thromboembolic manifestations necessitate etiological investigation, focusing on coagulation inhibitors like protein C.
- Protein C deficiency accounts for 6-7% of thromboembolic events.
Observation:
- A 21-year-old male experienced phlebitis and pulmonary embolism without apparent risk factors.
- The patient presented with a protein C level of 50% of normal.
Findings:
- Successful treatment involved heparin followed by oral anticoagulants with a prolonged overlap period.
- Family screening revealed a history of thromboembolism and protein C deficiency in relatives.
Implications:
- Early and thorough etiological evaluation, especially in young patients, is critical.
- Family history aids diagnosis and allows for preemptive treatment in asymptomatic carriers.
- Prolonged heparin-oral anticoagulant overlap is essential to prevent complications like skin necrosis.
Abstract:
Every thromboembolic manifestation, especially in young subjects, calls for an aetiological study in which haemostasis is evaluated primarily with assays of physiological coagulation inhibitors: protein C, protein S and antithrombin III. Protein C deficiency is found in 6 to 7% of thromboembolic manifestations. We report the case of a 21-year old man who had phlebitis followed by pulmonary embolism without facilitating factors. Protein C level was 50% of normal value (0.50 IU/ml). The patient received heparin, subsequently replaced by oral anticoagulants after a long period of overlap between the two treatments. The outcome was favourable. Family investigation yielded a history of thromboembolic accidents in several members of the family, some of whom were protein C deficient (50% of normal value). Protein C synthesis is vitamin K-dependent. Protein C deficiency is transmitted as an autosomal dominant trait. Normal values range from 0.65 to 1.35 IU/ml. Clinically, 25% of the patients are said to be asymptomatic. The first thrombotic accidents occur in young subjects (mean age 29 +/- 14 years). Several points emerge from this case: full evaluation must be performed, especially in young subjects; family investigation consolidates the diagnosis and enables symptomatic protein C deficient patients to be treated and thrombotic manifestations to be prevented by effective anticoagulant therapy in high-risk situations; a prolonged period of heparin-oral anticoagulant overlap is needed to avoid cutaneous necrosis.