Bernard-Soulier syndrome

Bernard-Soullier syndrome is a rare type of bleeding disorder underlying a defect in von Willebrand factor receptor. This defect results in staling of platelet adhesion which prevents blood clotting. In addition, patients have so-called giant platelets and a reduced platelet count.

Possible symptoms resulting from this are increased hematoma, purpura, nosebleeds, menorrhagia, gum bleeding and gastrointestinal haemorrhage. The disease is inherited as an autosomal recessive trait and shows symptoms only in homozygous or mixed heterozygous individuals.