Protein s deficiency
Protein S Deficiency
Protein S deficiency (pronounced: proh-teen ess deh-fish-en-see) is a disorder that leads to an increased risk of developing abnormal blood clots. The condition can be categorized into two types: Type I and Type II.
Etymology
The term "Protein S" is derived from the city of Seattle, where the protein was first discovered and isolated. The term "deficiency" comes from the Latin word "deficientia", meaning "a lack or shortage".
Definition
Protein S deficiency is a coagulation disorder, which means it affects the way blood clots. It is characterized by a decrease in the amount of Protein S in the blood. Protein S is a vitamin K-dependent protein that inhibits blood clotting.
Types
There are two types of Protein S deficiency:
- Type I: This is characterized by low levels of Protein S in the blood.
- Type II: This is characterized by normal levels of Protein S in the blood, but the protein is not functioning properly.
Symptoms
Symptoms of Protein S deficiency can vary, but may include:
- Deep vein thrombosis (DVT)
- Pulmonary embolism (PE)
- Stroke
- Miscarriage or stillbirth in pregnant women
Causes
Protein S deficiency is usually inherited, which means it is passed down through families. It is caused by mutations in the PROS1 gene.
Diagnosis
Diagnosis of Protein S deficiency is made through blood tests that measure the amount and function of Protein S in the blood.
Treatment
Treatment for Protein S deficiency typically involves medications to prevent or treat blood clots, such as anticoagulants.
Related Terms
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