Protein S deficiency
Conditions associated with low levels of protein S include liver disease, nephrotic syndrome, acute thromboembolism, hormonal therapy, pregnancy, certain chemotherapy agents, disseminated intravascular coagulation, malignant atrophic papulosis (Degos disease), human immunodeficiency virus (HIV) infection, and other infections.
Protein S deficiency is characterized by deep venous thrombosis and subsequent pulmonary embolism. Abnormal clotting can also occur in mesenteric, portal, or cerebral veins, but the link to arterial thromboembolism is uncertain. Other signs and symptoms include dermatologic findings, which tend to have onset during the neonatal period and infancy and include a life-threatening disorder of purpura fulminans and cutaneous necrosis, identified by large areas of purple skin lesions.
Protein S deficiency can be detected in children, adolescents, and adults with a family history of thrombophilia or protein S deficiency. A first occurrence of venous thromboembolism before age 50 points to a protein S deficiency.
Protein S deficiency can occur with other clotting abnormalities or factors that contribute to venous thromboembolism and complications, such as protein C deficiency.
Management of patients with deep vein thrombosis involves routine treatment of blood clotting disorder, ordinarily by anticoagulant therapy of a 3-6 month duration or longer depending on comorbidities and combined risk factors. A maintenance drug may be prescribed for patients at most risk for recurrence. Asymptomatic patients without venous thromboembolism do not begin anticoagulant therapy, but typically are counseled on avoiding risk factors (hormonal therapy, long periods of immobility, pregnancy, or surgery).
D68.59 – Other primary thrombophilia
1563006 – Protein S deficiency disease