Definition:
Bernard-Soulier disease is condition usually present in newborn infants, wherein the blood platelets are not able to stick to the ruptured walls of the blood vessel. This may cause problems in blood clotting and becomes a result of profuse abnormal bleeding.
Diagnosis:
Diagnostic tests for this disease include blood serum examination and measurement of glycoproteins. Platelet function tests are also conducted for diagnostic studies.
Treatment:
There is no specific treatment for the disease. The bleeding can be managed by taking coagulation drugs such as DDAVP.
Symptoms and Signs:
The symptoms of the disease include profuse bleeding during trauma or injuries, as well as inflammation of the body organs. Stomach ulcers, trauma and menstruation can also induce the onset of the disease.
Causes:
Bernard-Soulier disease is an autosomal recessive disorder that affects the short arm (p) of chromosome 17.
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