Bernard-Soulier syndrome is inherited in an autosomal recessive fashion.
This inherited disorder leads to a deficiency of glycoprotein Ib (GpIb) receptors on platelets. Without these receptors, platelets cannot bind to vWF expressed by endothelial cells that are injured, which would normally lead to clotting at the site of vascular injury.
This disorder displays many common manifestations of platelet disorders. Patients are more prone to mucosal membrane bleeding, and may display recurrent epistaxis or bleeding gums. Furthermore, these patients often show prolonged postoperative bleeding.
Menorrhagia is defined as menstruation on a regular cycle, but with excessive flow and duration lasting longer than seven days. Female patients with Bernard-Soulier syndrome may complain of this symptom.
As with other platelet disorders, patients show easy bruising with Bernard-Soulier syndrome.
Bernard-Soulier syndrome is often referred to as a giant platelet disorder, as patients have large platelets on peripheral smear. The large platelets and low platelet count in BSS are seemingly due to the absence of GPIb and filamentous structures, which helps stabilize the platelet cytoskeleton. The platelet count can be decreased or unaffected.
With this disorder, a lack of normal platelet function leads to an increased bleeding time. It should be noted that the PT and PTT are unaffected in Bernard-Soulier syndrome.
A test that helps distinguish Bernard-Soulier syndrome from other platelet disorders is the ristocetin cofactor assay. In this disease, platelets do not aggregate to ristocetin, distinguishing it from Glanzmann thrombasthenia.
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