Protein C Deficiency
About Protein C Deficiency
Protein C plays an important part in blood clotting. Normally, people have about 20 proteins in their blood which work together to stop bleeding by forming clots. Protein C is crucial in the control of clotting, and is part of one of the "feedback" mechanisms within the body that normally prevent excess clotting
People who have too little Protein C form too many clots because their blood does not stop clotting. Clots can develop in blood vessels, particularly in the skin, eyes, kidneys, and brain. If not corrected, damage from clotting can cause death
Types of Congenital Protein C Deficiency
People who have congenital Protein C deficiency were born with a defect in the genes that control Protein C production. Either their bodies don't produce enough Protein C, or the Protein C doesn't work correctly.
If a person has inherited an identical pair of defective genes, one from each parent, the condition is called homozygous.
• Severe congenital Protein C deficiency is usually homozygous
• Homozygous is very rare
• Usually symptoms appear in the first hours or days of life
If a person has only one defective gene in the pair that controls Protein C production, the condition is called heterozygous.
• Most people with heterozygous Protein C deficiency don't develop symptoms, but clotting complications may develop later in life
Double heterozygous Protein C deficiency means that a person has two different defective genes, one from each parent. This is very rare, and can also cause severe congenital Protein C deficiency.
Severe congenital Protein C deficiency is diagnosed based on symptoms and blood tests. Symptoms include:
• Purpura fulminans (blood spots, bruising and discolouring to skin as a result of clotting of small blood vessels in the skin)
• Venous thrombosis (blood clot in the vein)