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Bernard-Soulier syndrome is a rare inherited blood disorder that causes heavy bleeding after injury due to oversized platelets lacking clotting proteins. Precautions include avoiding injury and blood-thinning medications, and bone marrow transplants may be a potential treatment option.
Bernard-Soulier syndrome is an inherited blood disorder named after the two doctors who discovered it in the 1940s. This syndrome causes people to bleed heavily after any type of injury. Clinically, the disorder is caused by blood platelets that are oversized and lack important proteins that help cause clotting. Patients also have lower than normal platelet counts. It is extremely rare, and if someone has it, lifestyle changes may be needed to avoid certain complications.
If someone with Bernard-Soulier syndrome suffers from some type of injury, they may bleed for a long time without stopping. A small cut could potentially cause someone with this disorder to bleed to death, although that wouldn’t necessarily be common. Sufferers also have to worry about internal bleeding. For example, bruises under the skin can actually be a dangerous thing for someone with Bernard-Soulier syndrome, and something like a bleeding ulcer could potentially put them in danger. The first person to be diagnosed with the disease died of a brain hemorrhage after getting into a fight with someone.
A common way to find out about the disorder is for a child’s tooth to bleed for an abnormal amount of time. Sometimes it can also be discovered after a minor operation in infancy, such as a circumcision. There is no cure for the syndrome, but once discovered, some precautions are usually advised by doctors.
Some of the precautions involve avoiding any type of injury. For example, sufferers are generally advised to avoid all physical sports where injuries might be common, including things like soccer and boxing. It is also usually important for patients to avoid taking aspirin or other blood-thinning medications. Some women with this disorder may experience various problems during their periods and may need to watch out for symptoms of anemia.
In almost all cases of Bernard-Soulier syndrome, it is inherited from both the mother and father. There are very rare situations where the same blood disease can appear as part of another disease and only a few situations where only one parent can pass on the disease. Identified the gene that causes this disorder. Many experts believe that the most promising therapeutic research involves the use of bone marrow transplants. This hasn’t been proven to be reliable or effective enough to be a standard treatment option, but some patients have shown improvements in laboratory tests.
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