What happens if protein C is low?

What happens if protein C is low?

Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe. Individuals with mild protein C deficiency are at risk of a type of blood clot known as a deep vein thrombosis (DVT).

How does warfarin affect protein C?

Warfarin inhibits the body’s own production of protein C and protein S. Therefore, initial treatment with warfarin alone in people with protein C or protein S deficiency may temporarily make clotting worse or precipitate a new clot or a severe skin rash known as skin necrosis.

What is C protein deficiency?

Protein C deficiency is a rare genetic disorder characterized by a deficiency of protein C, which is a natural anticoagulant. This means it helps to prevent the blood from clumping together (clotting) too much.

Are you born with protein C deficiency?

Although very rare, there is a severe form that is present at birth (congenital) and can potentially cause widespread small clots in the body and life-threatening complications in infancy. Protein C deficiency is caused by alterations (mutations) in the PROC gene.

What causes protein C and protein S disease?

Protein C deficiency is caused by alterations (mutations) in the PROC gene. The common form is caused by an alteration in one PROC gene. The severe form is caused by an alteration in both PROC genes. (For more information on this disorder, choose “protein C” as your search term in the Rare Disease Database.)

Is protein C deficiency a cerebrovascular disease?

Similarly, combined deficiency of proteins C and S can lead to hypercoagulable state and rarely presents as a cerebrovascular accident.

What are the different types of protein C deficiency?

CauseCause 1 Type I deficiency: When people in the family have only one mutated copy of the gene ( heterozygous) they typically have… 2 Type II deficiency: Type II protein C deficiency is less common than type I disease, and is associated with decreased… More

How is protein C deficiency related to proc mutations?

Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity.

How does a protein C deficiency assay work?

Initially, a protein C activity (functional) assay can be performed, and if the result is low, a protein C antigen assay can be considered to determine the deficiency subtype (Type I or Type II). In type I deficiencies, normally functioning protein C molecules are made in reduced quantity.

Is there a link between protein C deficiency and arterial thrombotic disease?

The disease belongs to a group of genetic disorders known as thrombophilias. Protein C deficiency is associated with an increased incidence of venous thromboembolism (relative risk 8–10), whereas no association with arterial thrombotic disease has been found.