Giant platelet syndrome, also known as Bernard-Soulier syndrome, is a genetic disorder affecting platelets. In this condition, platelets are unable to adhere properly to the walls of injured blood vessels, leading to unusual bleeding. Symptoms typically emerge during the newborn phase, infancy, or early childhood and may include bruising, nosebleeds, and gum bleeding. As individuals grow older, they may face additional bleeding challenges, especially during events like trauma, surgery, or the presence of stomach ulcers.This inherited disease follows an autosomal recessive pattern, meaning that a child must inherit the gene from both parents to be affected. Although the parents carry a reduced amount of platelet glycoproteins Ib, V, and IX, they do not experience impaired platelet function or unusual bleeding. The genetic cause of the syndrome is located on the short arm (p) of chromosome 17.Currently, there is no specific cure for giant platelet syndrome. In cases of bleeding, platelet transfusions might be necessary. In Bernard-Soulier syndrome, platelets appear significantly larger than usual when examined under a microscope or measured with automated devices. However, other conditions can also feature enlarged platelets, so specific tests for platelet function and glycoproteins are needed for accurate diagnosis.The condition was first identified in 1948 by French hematologists Jean Bernard and Jean-Pierre Soulier, hence the name Bernard-Soulier syndrome.
