Glanzmann's thrombasthenia is a congenital anomaly of platelets. It's an inherited disease. Haemorrhagic diathesis appears in early childhood and may vary in severity. Sometimes it is dangerous in nature - then it manifests itself with profuse spontaneous hemorrhages from the gastrointestinal tract and within the skull. Thrombasthenia is relatively most common in Israel.
Glanzmann's thrombasthenia is a disease resulting from platelet dysfunction. It often runs in families as a rare congenital anomaly. It usually accompanies acquired disease syndromes. May be a consequence of taking medication.
Glanzmann's thrombasthenia becomes milder with age
The disease manifests itself as a hemorrhagic diathesis - it mainly affects children. The patient suffers from bleeding from the gums, nose and gastrointestinal tract, blood appears in the urine, and ecchymosis is visible on the skin. Abnormal bleeding after injuries and surgeries is also characteristic of Glanzmann's thrombasthenia. Vaginal bleeding also occurs in women.
The symptoms of thrombasthenia disappear with the years of the patient. As the patient grows older, the disease slowly subsides.
Glanzmann's thrombasthenia - laboratory test
Studies show prolonged bleeding time and no clot. The essence of the disease is the lack or anomaly in the presence of fibrinogen (blood coagulation factor). The diagnostician is also concerned about the significantly prolonged bleeding time with normal blood counts and the number of platelets.
Glanzmann's thrombastenia - diagnosis
Confirmation of illness is based on family history and laboratory tests.
Treatment of thrombasthenia
Treatment is symptomatic - blood transfusion. In severe cases, a hematopoietic cell transplant is recommended.