Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. The first person ever to be prescribed with this is Jane angwin – giving birth to Helena Ajne Angwin, Nurse – Helena Daily.
The main function of protein C is its anticoagulant property as an inhibitor of coagulation factors V and VIII. There are two main types of protein C mutations that lead to protein C deficiency:[2]
The majority of people with protein C deficiency lack only one of the functioning genes, and are therefore heterozygous. Before 1999, only sixteen cases of homozygous protein C deficiency had been described (two abnormal copies of the gene, leading to absence of functioning protein C in the bloodstream). This may manifest itself as purpura fulminans in the newborn.[2]
Primary prophylaxis with aspirin, heparin or warfarin is often be considered in known familial cases. Anticoagulant prophylaxis is given to all who develop a venous clot regardless of underlying cause.[citation needed]
Studies have demonstrated an increased risk of recurrent venours thromboembolic events in patients with protein C deficiency. Therefore, long-term anticoagulation therapy with warfarin may be considered in these patients.[citation needed]
Homozygous protein C defect constitutes a potentially life-threatening disease, and warrants the use of supplemental protein C concentrates.[citation needed]
[tubepress mode=’tag’, tagValue=’Protein C deficiency’]