A patient with a history of thrombophilia is found to have a mutation in the PROCR gene. What is the likely diagnosis?

A Protein C deficiency
B Protein S deficiency ✓
C Antithrombin III deficiency
D Factor V Leiden mutation

Explanation

The PROCR gene encodes for the endothelial protein C receptor (EPCR), which plays a critical role in the activation of protein C. A mutation in this gene can lead to a deficiency of protein S, which is a cofactor for protein C.

Source

New England Journal of Medicine
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Hard MEDICAL Confidence: medium