Definition:
Giant platelet syndrome, also known as Bernard-Soulier disease, is a disorder found in newborn infants. In this condition the blood platelets fail to stick to the walls to the blood vessels, affecting the ability to clot properly. It can be a cause for abnormal bleeding.
Diagnosis:
Diagnostic procedures for this illness include the platelet function tests and blood serum examination to measure glycoproteins that help induce blood clotting.
Treatment:
There is no exact treatment for the giant platelet syndrome. The bleeding can only be managed by the use of coagulation drugs such as DDAVP.
Symptoms and Signs:
People with the disease are prone to bleeding episodes; events that may trigger bleeding also help induce the onset of the disease, such as menstruation, ulcers, surgeries and trauma.
Causes:
Giant platelet syndrome is an inherited autosomal recessive defect. The disorder can be found in the short arm (p) of chromosome 17.
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