Protein-C deficiency presenting as pulmonary embolism and myocardial infarction in the same patient

Area of Science:

• Cardiology
• Hematology
• Genetics

Background:

• Plasma protein C is a crucial anticoagulant, inactivating factors V and VIII.
• Hereditary protein C deficiency, an autosomal dominant disorder, predisposes individuals to thrombotic events.
• While venous thrombosis is well-established, arterial thrombosis in protein C deficiency remains debated.

Observation:

• A young patient with heterozygous protein C deficiency presented with both pulmonary embolism and myocardial infarction.
• The patient had no other significant underlying risk factors for thrombosis.
• This clinical presentation challenges the traditional understanding of protein C deficiency's thrombotic spectrum.

Findings:

• Congenital heterozygous protein C deficiency can manifest as arterial thrombosis, specifically myocardial infarction.
• This case suggests that protein C deficiency should be considered in young individuals experiencing arterial thrombotic events without apparent risk factors.
• The anticoagulatory role of protein C is critical in preventing both venous and arterial thrombotic occlusions.

Implications:

• Evaluating young patients with myocardial infarction for protein C deficiency may lead to earlier diagnosis and management.
• This finding broadens the scope of clinical suspicion for protein C deficiency beyond venous thromboembolism.
• Further research is warranted to elucidate the precise mechanisms linking protein C deficiency to arterial thrombosis.