Autosomal recessive protein C deficiency

Other Names: Autosomal recessive thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Severe hereditary thrombophilia due to congenital protein C deficiency.

Autosomal recessive protein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.

Cause

It is caused by having changes in the PROC gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

The inheritance pattern is autosomal recessive.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Purpura(Red or purple spots on the skin)
• Thin skin
• Venous thrombosis(Blood clot in vein)

5%-29% of people have these symptoms

• Abnormality of skin pigmentation(Abnormal pigmentation)
• Abnormality of the cerebral vasculature(Abnormality of the cerebral blood vessels)
• Gangrene(Death of body tissue due to lack of blood flow or infection)
• Pulmonary embolism(Blood clot in artery of lung)
• Venous insufficiency(Poorly functioning veins)
• Warfarin-induced skin necrosis

Treatment

Treatment depends on the severity of the disease and may involve blood thinners, clot-dissolving medicines, or blood transfusions of fresh frozen plasma or highly purified protein C concentrate. In some cases, live donor liver transplantation which cures the disease.

NIH genetic and rare disease info

• NIH info on Autosomal recessive protein C deficiency

Autosomal recessive protein C deficiency is a rare disease.

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