What is Bernard Soulier syndrome?
General Discussion. Bernard-Soulier syndrome (BSS) is a rare inherited disorder of blood clotting (coagulation) characterized by unusually large platelets, low platelet count (thrombocytopenia) and prolonged bleeding time (difficulty in clotting). Affected individuals tend to bleed excessively and bruise easily.
How is Glanzmann diagnosed?
Glanzmann thrombasthenia is definitively diagnosed by tests that determine if there is a deficiency of the aIIbβ3 (GPIIb/GPIIIa) receptor. These tests usually involve monoclonal antibodies and flow cytometry. Genetic tests can identify the DNA mutations responsible for the disorder.
How do you treat Bernard-Soulier syndrome?
There is no specific treatment for Bernard-Soulier syndrome. Patients should avoid any drugs which may interfere with clot formation, such as aspirin, ibuprofen, and naproxen. Severe bleeding episodes may require platelet and blood transfusions.
What is the cause of Glanzmann’s disease?
It’s a congenital hemorrhagic disorder, meaning that it’s a bleeding disorder present at birth. Glanzmann’s disease results from not having enough glycoprotein IIb/IIIa (GPIIb/IIIa), a protein usually found on the surface of blood platelets.
What kind of blood disorder is Glanzmann’s thrombasthenia?
Glanzmann’s thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen.
When to see a doctor for Glanzman’s disease?
People with Glanzmann’s have to be very careful when they are injured and bleeding occurs. Women who have the condition may develop iron deficiency anemia during their menstrual cycles. If you begin to bruise easily or bleed for unknown reasons, you should talk with your doctor.
How are blood transfusions used to treat glanzmans disease?
Treating Glanzmann’s Disease. There are no specific treatments for Glanzmann’s disease. Doctors may suggest blood transfusions, or injections of donor blood, for patients who have severe bleeding episodes. By replacing damaged platelets with normal platelets, people with Glanzmann’s disease often have less bleeding and bruising.