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[edit | edit source]
It is caused by having changes in the PROC gene.
Inheritance[edit | edit source]
The inheritance pattern is autosomal recessive.
Symptoms[edit | edit source]
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[edit | edit source]
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[edit source]
Autosomal recessive protein C deficiency is a rare disease.
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