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Protein C Deficiency and Deep Vein Thrombosis, mutations PROC gene - Vein Treatment Center Buffalo New York
Wednesday, August 14, 2013

 

 

Protein C deficiency is a disorder that increases the risk of developing deep vein thrombosis (DVT).  Patients can have mild protein C deficiency or more severe deficiencies of this protein.  Patients with protein C deficiency are at risk of developing deep vein thrombosis and venous thromboembolism and pulmonary embolism. 

 

While it is known that most people with protein C deficiency will never develop blood clots, there are certain risk factors that add to the risk of developing venous thromboembolism and these factors include; increased age, surgical procedures, inactivity and pregnancy, among others.  Additional acquired or inherited disorders of blood clotting (Factor V Leiden, Prothrombin II) can also add to this risk of developing deep vein thrombosis and venous thromboembolism.

 

Mild protein C deficiency is found in approximately one in 500 individuals in The United States.  Severe protein C deficiency is rare and occurs in an estimated one in four million newborns.

 

Protein C deficiency is caused by mutations in the PROC gene.  This gene provides a gene product namely a protein, which is protein C, which is found in the blood stream and is involved in the blood clotting process.  Protein C inactivates circulating proteins that promotes blood clotting.  As such the deficiency of protein C places the patient in a prothrombotic or increased clot forming state.

 

Protein C deficiency is inherited in an autosomal dominant pattern.  This means that a single gene mutation and inheritance of the gene from a single parent is sufficient to cause mild protein C deficiency.  Inheritance of two copies of this gene defect causes severe protein C deficiency.

 

Dr. Karamanoukian has written an article about Protein S deficiency:

 

Taheri, PA, Eagle, BT, Karamanoukian, HL, Logue, G,Hoover, EL:  Functional Hereditary Deficiency of Protein S with Arterial Thrombosis. American Surgeon 1992; 58: pages 496-498.

 

 

 

For more information about protein C deficiency and deep vein thrombosis, contact Hratch Karamanoukian, MD FACS at the Vein Treatment Center with offices in Williamsville, New York and Clarence, New York.  You can also contact Dr. Karamanoukian through his website at www.VeinsVeinsVeins.com or by calling 716-839-3638.

 

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