Protein S deficiency
Protein S deficiency has autosomal dominant inheritance and results from mutations in the PROS1 gene on chromosome 3. Most patients are heterozygous for the PROS1 mutation; however, homozygous or compound heterozygous patients have been described. Protein S deficiency is further categorized on how the mutation affects total protein S levels, free protein S levels, or protein S function. Type 1 refers to decreased total protein S, free protein S, and reduced function. Type 2 is when total and free protein S levels are normal but function is reduced. Type 3 is isolated free protein S deficiency with normal total protein S and normal function.
The primary presentation of protein S deficiency is the development of VTE, with deep vein thrombosis and pulmonary embolism being the most common presentations.
For more information, see OMIM.
D68.59 – Other primary thrombophilia
1563006 – Protein S deficiency disease
- Antiphospholipid syndrome
- Other inherited thrombophilias (factor V Leiden mutation, protein G20210A mutation, protein C deficiency, antithrombin deficiency)
- Myeloproliferative neoplasm
- Warfarin use
- Human immunodeficiency virus (HIV) infection
- Nephrotic syndrome
- Liver disease
- L-asparaginase chemotherapy
- Oral hormonal contraceptive use
- Disseminated intravascular coagulation