Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.
Protein S deficiency is caused by mutations in the PROS1 gene. This gene provides instructions for making protein S, which is found in the bloodstream and is important for controlling blood clotting. Protein S helps block the activity of (inactivate) certain proteins that promote the formation of blood clots.
Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown.
Protein S deficiency is inherited in an autosomal dominant pattern, which means one altered copy of the PROS1 gene in each cell is sufficient to cause mild protein S deficiency. Individuals who inherit two altered copies of this gene in each cell have severe protein S deficiency.
Paolo Simioni practices in Padova, Italy. Simioni is rated as an Elite expert by MediFind in the treatment of Protein S Deficiency. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Mesenteric Venous Thrombosis, Factor 5 Deficiency, Protein S Deficiency, Liver Transplant, and Kidney Transplant.
Daniela Tormene practices in Padova, Italy. Tormene is rated as an Elite expert by MediFind in the treatment of Protein S Deficiency. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Protein S Deficiency, Mesenteric Venous Thrombosis, Venous Thromboembolism (VTE), and Protein C Deficiency.
Eriko Morishita practices in Kanazawa, Japan. Morishita is rated as an Elite expert by MediFind in the treatment of Protein S Deficiency. She is also highly rated in 10 other conditions, according to our data. Her top areas of expertise are Protein S Deficiency, Protein C Deficiency, Congenital Antithrombin 3 Deficiency, Prothrombin Deficiency, and Bone Marrow Transplant.
Published Date: October 01, 2009Published By: National Institutes of Health