What do we know about congenital deficiency of Protein C?

[A. Hammouda]

What do we know about congenital deficiency of Protein C?

[Hamdy Ahmad]

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. 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.

Here is a complete description:

Protein C deficiency – Wikipedia

[Dr. Kumar]

Protein C deficiency is a rare but serious condition that can be congenital or acquired. Patients with this condition have a higher propensity to develop disseminated intravascular coagulation or venous thromboembolism, and these may comprise the initial presentation of the disease.

This activity reviews the presentation, evaluation, and management of protein C deficiency and highlights the role of the interprofessional team in managing patients with this condition:

Protein C Deficiency – StatPearls – NCBI Bookshelf

[Y Soun]

Protein C (encoded by the PROC gene on chromosome 2) is a vitamin K-dependent plasma glycoprotein that is a key component of the anticoagulant system. Protein C is cleaved to its activated form, ‘activated protein C (APC), on endothelial cells by the thrombin-thrombomodulin complex and then acts as a serine protease to degrade the activated forms of coagulation factors V and VIII. Protein S, also a vitamin K-dependent plasma protein, functions as a cofactor to activated protein C.

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic.

Homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia.

 

[Author]

Posts