Definition of Protein C deficiency
Protein C deficiency: Protein C is a protein in plasma
that enters into the cascade of biochemical events leading to the formation of a clot.
Deficiency of protein C results in thrombotic (clotting) disease and excess platelets with
recurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). The
clot can break loose and travel through the blood stream (thromboembolism) to the lungs
causing a pulmonary embolism, brain causing a stroke (cerebrovascular accident),
heart causing an early heart attack, skin causing what in the newborn is called neonatal
purpura fulminans, the adrenal gland causing hemorrhage with abdominal pain,
abnormally low blood pressure (hypotension), and salt loss. Protein C deficiency is
due to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possession
of two such genes (homozygosity) is usually lethal.
Common Misspellings: protien c deficiency
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