Key Clinical Message: Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common. Diagnosis can be confirmed using a ristocetin test and a peripheral blood smear.Effendi, Iqra...
Bernard-Soulier syndrome is a rare inherited blood clotting disorder characterized by unusually large, giant platelet cells, thrombocytopenia, and prolonged bleeding time. Due to the rarity of the disease, it may not appear foremost on the clinician's differential. Affected individuals tend to bleed ...
In TTP patients, UL-vWF multimers either remain adherent to endothelial cells or circulate in the blood. The UL-vWF multimers are highly adhesive to platelets through binding of the A1 domain of vWF to platelet glycoprotein (GP)Ib receptors. The attachment of ADAMTS-13 to platelets leads to ...
This report describes the first Turkish family to be diagnosed with Bernard-Soulier syndrome. The family consists of nine members (two parents, three sons and four daughters). The parents were first cousins. The index case, a 22 year-old-man, had a history of haemorrhagic diathesis with throm...
2006. Bernard-Soulier syndrome due to GPIX W127X mutation in japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura. Int. J. Hematol. 83:366-367.Kunishima S, Yamada T, Hamaguchi M, Saito H. Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently mis...