Glanzmann thrombasthenia

From WikiMD.org
Jump to navigation Jump to search

Glanzmann Thrombasthenia (pronunciation: glanz-man throm-bas-then-ia) is a rare, inherited bleeding disorder characterized by the inability of blood platelets to aggregate and form a blood clot in response to injury.

Etymology

The condition is named after the Swiss pediatrician, Eduard Glanzmann, who first described it in 1918. The term "thrombasthenia" is derived from the Greek words "thrombos" meaning clot, and "astheneia" meaning weakness.

Symptoms

The primary symptom of Glanzmann Thrombasthenia is an increased tendency to bleed. This can manifest as nosebleeds, gum bleeding, bruising, menorrhagia (heavy menstrual bleeding), and prolonged bleeding after surgery or dental procedures. In severe cases, spontaneous bleeding can occur in the gastrointestinal tract or urinary tract.

Causes

Glanzmann Thrombasthenia is caused by a mutation in the ITGA2B or ITGB3 gene. These genes provide instructions for making proteins that are part of platelets. The mutation prevents these proteins from working properly, which disrupts the ability of platelets to stick together and form a clot.

Diagnosis

Diagnosis of Glanzmann Thrombasthenia involves blood tests to measure the ability of the platelets to clot. Genetic testing can also be done to identify mutations in the ITGA2B or ITGB3 genes.

Treatment

Treatment for Glanzmann Thrombasthenia is aimed at controlling bleeding. This can involve platelet transfusion, administration of antifibrinolytic drugs, and use of recombinant factor VIIa.

See Also

External links

Esculaap.svg

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