Introduction:

The association between arterial thrombosis and protein C (PC) deficiency has not been well-studied. Previous Systematic reviews and meta-analyses have shown a two-fold increase in ischemic stroke incidence among PC-deficient patients compared to controls. However, data on myocardial infarction (MI) is limited.

Objective:

This study reports a case of MI in a patient with PC deficiency and performs a systematic review to characterize MI presentations, PC deficiency details, and treatments in affected patients.

Methods:

We conducted a descriptive review of case reports on PC deficiency and MI. Studies published before June 2024 were searched in Ovid MEDLINE and EMBASE by three investigators.

Results:

We included 33 patients, including our case. The median age was 37 years (IQR, 26.5-44 years). Six patients (18.2%) had additional atherosclerotic risk factors. Notably, 57.6% (19 patients) had recurrent thrombotic events, both arterial and venous. Median PC activity was 42.8% (IQR 32.3-50.5%), and median PC antigen level was 44% (IQR 39.7-52.2%). Four genetic mutations in the PROC gene were identified: c.325G>A (p.G109R), c.764T>A (p.M255L), c.577_579delAAG (p.192delK), and c.565C>T (p.R189W). Coronary angiography frequently showed total occlusion by thrombus without obvious atherosclerosis. Most patients were treated with oral anticoagulants and anti-platelet therapies.

Conclusions:

This study suggests a potential association between PC deficiency and MI, with recurrent thrombotic events in some patients. These findings highlight the need to consider PC deficiency in MI diagnosis, especially when coronary angiography shows no atherosclerotic disease. Further research is needed to clarify this association.

Disclosures

No relevant conflicts of interest to declare.

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2024
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