Antithrombin III deficiency

Antithrombin III deficiency (pronounced: an-ti-throm-bin three de-fi-ciency) is a rare genetic disorder that affects the blood's ability to clot. It is characterized by an increased risk of blood clots and thrombosis.

Etymology

The term "Antithrombin III deficiency" is derived from the name of the protein that is deficient in this condition, Antithrombin III. "Anti-" is a prefix of Greek origin meaning "against", "thrombin" is a protein involved in blood clotting, and "III" is a Roman numeral indicating the third of a series. The term "deficiency" comes from the Latin "deficientia", meaning "lack".

Definition

Antithrombin III deficiency is a disorder of blood clotting. People with this condition are prone to developing abnormal blood clots in veins, a condition known as venous thromboembolism. These clots can travel through the bloodstream and cause serious complications such as pulmonary embolism.

Symptoms

Symptoms of Antithrombin III deficiency can vary greatly from person to person. Some people may have no symptoms at all, while others may experience recurrent blood clots. Symptoms can include swelling, pain, and redness in the affected area. If a blood clot travels to the lungs, it can cause shortness of breath, chest pain, and even sudden death.

Causes

Antithrombin III deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for making the antithrombin III protein, which helps control blood clotting. Mutations in the SERPINC1 gene reduce the amount of antithrombin III in the blood, leading to an increased risk of blood clots.

Treatment

Treatment for Antithrombin III deficiency typically involves medications to reduce the risk of blood clots. These can include anticoagulants, also known as blood thinners, and in some cases, antithrombin III replacement therapy.

Related Terms

• Thrombophilia
• Coagulation
• Hemostasis
• Protein C deficiency
• Protein S deficiency

External links

• Medical encyclopedia article on Antithrombin III deficiency
• Wikipedia's article - Antithrombin III deficiency

This WikiMD dictionary article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski