Giant platelet disorder
(Redirected from Macrothrombocytopenia, familial Bernard-Soulier type)
Giant Platelet Disorder is a rare blood disorder characterized by larger than normal platelets in the blood. These oversized platelets are often fewer in number and function less effectively than normal-sized platelets, leading to a variety of health issues.
Symptoms[edit | edit source]
The most common symptoms of Giant Platelet Disorder include bruising and bleeding that is difficult to control. This is due to the reduced number and functionality of the platelets in the blood. Other symptoms can include nosebleeds, gum bleeding, and heavy menstrual periods in women.
Causes[edit | edit source]
Giant Platelet Disorder is usually caused by genetic mutations. These mutations can be inherited from one or both parents, or they can occur spontaneously. The mutations affect the genes responsible for platelet production and function.
Diagnosis[edit | edit source]
Diagnosis of Giant Platelet Disorder is typically made through a blood test. The test will show a lower than normal number of platelets, and the platelets that are present will be larger than normal. Further testing may be needed to confirm the diagnosis and determine the specific type of Giant Platelet Disorder.
Treatment[edit | edit source]
Treatment for Giant Platelet Disorder is usually aimed at managing the symptoms. This can include medications to help control bleeding, and in severe cases, platelet transfusions may be necessary. In some cases, a bone marrow transplant may be considered.
See Also[edit | edit source]
Giant platelet disorder Resources | |
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Contributors: Prab R. Tumpati, MD