Protein s deficiency

Protein S deficiency is a disorder associated with increased risk of venous thromboembolism. Venous thromboembolism is a condition that includes both deep vein thrombosis and pulmonary embolism. Protein S helps prevent clots from forming in the blood, and a deficiency leads to a higher risk of developing abnormal blood clots.

Causes

Protein S deficiency can be inherited or acquired. Inherited Protein S deficiency is caused by mutations in the PROS1 gene and is inherited in an autosomal dominant manner. This means that an affected person has a 50% chance of passing the disorder to each of their children. Acquired Protein S deficiency is not caused by a genetic mutation and may be associated with conditions such as HIV, certain forms of cancer, and kidney disease.

Symptoms

The most common symptom of Protein S deficiency is the development of abnormal blood clots. These clots can lead to deep vein thrombosis or pulmonary embolism. Other symptoms may include skin necrosis and purpura fulminans, although these are less common.

Diagnosis

Diagnosis of Protein S deficiency is made through blood tests that measure the level of Protein S in the blood. Genetic testing may also be performed to identify a mutation in the PROS1 gene.

Treatment

Treatment for Protein S deficiency is focused on preventing the formation of abnormal blood clots. This may include the use of anticoagulant medications. In severe cases, a protein S concentrate may be used.

See also

• Thrombophilia
• Coagulation
• Anticoagulant

Protein s deficiency Resources
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