Giant platelet syndrome
Giant Platelet Syndrome
Giant Platelet Syndrome (pronunciation: /ˈdʒaɪənt ˈpleɪtlɪt ˈsɪndroʊm/), also known as Bernard-Soulier Syndrome, is a rare inherited bleeding disorder characterized by the presence of unusually large platelets in the blood.
Etymology
The term "Giant Platelet Syndrome" is derived from the distinctive feature of the disorder, which is the presence of abnormally large platelets. The syndrome is also named after the French hematologists Jean Bernard and Jean Pierre Soulier who first described the condition in 1948.
Definition
Giant Platelet Syndrome is a disorder that affects the blood clotting process. It is characterized by unusually large platelets, a low number of platelets, and prolonged bleeding time. This condition is caused by mutations in the GP1BA, GP1BB, or GP9 genes.
Symptoms
The symptoms of Giant Platelet Syndrome can vary, but they often include easy bruising, prolonged bleeding, nosebleeds, and bleeding gums. In severe cases, individuals may experience bleeding into the joints or internal bleeding.
Diagnosis
Diagnosis of Giant Platelet Syndrome typically involves blood tests to measure platelet count and size, as well as tests to assess the function of the platelets. Genetic testing may also be performed to identify mutations in the GP1BA, GP1BB, or GP9 genes.
Treatment
Treatment for Giant Platelet Syndrome is typically focused on managing symptoms and preventing bleeding episodes. This may involve the use of medications to increase platelet count, as well as procedures to stop or prevent bleeding.
Related Terms
External links
- Medical encyclopedia article on Giant platelet syndrome
- Wikipedia's article - Giant platelet syndrome
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