Glanzmann's thrombasthenia
Glanzmann's thrombasthenia (pronounced: glanz-muhns throm-bas-then-ee-uh) is a rare genetic disorder characterized by the inability of platelets to properly adhere to injured blood vessel walls, leading to prolonged bleeding and bruising.
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, referring to the weak clotting ability of the blood in this condition.
Symptoms
The primary symptom of Glanzmann's thrombasthenia is an increased tendency to bleed. This can manifest as nosebleeds, gum bleeding, heavy menstrual periods in women, and prolonged bleeding from minor cuts or injuries. In severe cases, spontaneous bleeding can occur in the gastrointestinal tract or urinary tract.
Causes
Glanzmann's thrombasthenia is caused by a mutation in the ITGA2B or ITGB3 gene. These genes provide instructions for making proteins that are part of platelets. When these genes are mutated, the proteins are either absent or dysfunctional, preventing platelets from sticking to the walls of injured blood vessels and forming a clot.
Diagnosis
Diagnosis of Glanzmann's thrombasthenia is typically made through a combination of blood tests, including platelet function tests, and genetic testing to identify mutations in the ITGA2B or ITGB3 genes.
Treatment
There is currently no cure for Glanzmann's thrombasthenia. Treatment is focused on managing symptoms and preventing bleeding episodes. This may include platelet transfusions, antifibrinolytic medicines to prevent the breakdown of blood clots, and recombinant factor VIIa to promote clotting.
See also
External links
- Medical encyclopedia article on Glanzmann's thrombasthenia
- Wikipedia's article - Glanzmann's thrombasthenia
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