thrombaszténia

Thrombaszthénia, also known as Glanzmann's thrombasthenia, is a rare inherited bleeding disorder that affects the function of platelets. Platelets are small blood cells that play a crucial role in blood clotting. In individuals with thrombaszthénia, platelets have difficulty sticking together and to the walls of injured blood vessels, which impairs their ability to form a stable clot. This deficiency arises from defects in a specific protein complex called integrin αIIbβ3, which is found on the surface of platelets and is essential for platelet aggregation.

The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Symptoms can vary in severity and may include easy bruising, prolonged bleeding after injury or surgery, nosebleeds, and heavy menstrual bleeding in women. In severe cases, spontaneous bleeding into joints or the gastrointestinal tract can occur.

Diagnosis typically involves blood tests to assess platelet count and function. Specific tests measure platelet aggregation in response to various stimuli. While there is no cure for thrombaszthénia, management focuses on preventing and treating bleeding episodes. This can include medications to improve platelet function, such as desmopressin, and in some cases, platelet transfusions. Careful management of dental procedures and surgical interventions is also important. Genetic counseling is recommended for affected individuals and their families.