SNP Shot: Genomic Insights

Protein C deficiency is a condition that elevates the likelihood of developing unusual blood clots. This condition can range in severity from mild to severe.

Those with a mild form of protein C deficiency face an increased risk of deep vein thrombosis (DVT), a type of blood clot that forms in the deep veins of the arms or legs. These clots can dislodge and travel to the lungs, leading to a pulmonary embolism (PE), a dangerous blockage of blood flow. Although most individuals with mild protein C deficiency do not experience abnormal blood clots, certain circumstances such as advancing age, surgical procedures, physical inactivity, or pregnancy can further elevate their risk. The presence of another inherited blood clotting disorder alongside protein C deficiency can also increase this risk.

Severe protein C deficiency manifests in infants as purpura fulminans, a life-threatening blood clotting disorder that appears shortly after birth. This condition involves the formation of blood clots in the small blood vessels throughout the body, obstructing normal blood flow and potentially causing tissue death (necrosis). This widespread clotting depletes the body's supply of clotting proteins, resulting in abnormal bleeding in various areas and the appearance of large, purple patches on the skin. Survivors of this newborn period may experience recurring episodes of purpura fulminans.

Inheritance:

Protein C deficiency follows an autosomal dominant inheritance pattern. This means that having just one altered copy of the PROC gene in each cell is enough to cause the milder form of the condition. Severe protein C deficiency occurs when an individual inherits two altered copies of the PROC gene in each cell.