Bernard-Soulier syndrome is an inherited blood disorder that is named after the two doctors who discovered it in the 1940s. This syndrome causes people to bleed severely after any kind of injury. From a clinical perspective, the disorder is caused by blood platelets that are oversized and missing important proteins that help cause clotting. Patients also have a smaller number of platelets than normal. It is extremely rare, and if someone has it, lifestyle changes may be required in order to avoid certain complications.
If someone with Bernard-Soulier syndrome suffers some kind of wound, it may bleed for a very long time without stopping. A small cut could potentially cause someone suffering from this disorder to bleed to death, although that wouldn’t necessarily be common. Sufferers also have to worry about internal bleeding. For example, bruising under the skin can actually be a dangerous thing for Bernard-Soulier syndrome sufferers, and something like a bleeding ulcer could potentially put him in danger. The first person ever diagnosed with the illness died because of bleeding in the brain after getting into a brawl with someone.
A common way for the disorder to be discovered is for a child’s tooth to bleed for an abnormal length of time. Sometimes it can also be discovered after a minor operation during childhood, such as a circumcision. There is no way to cure the syndrome, but once it’s discovered, certain precautions are generally advised by doctors.
Some of the precautions involve avoiding any kind of injury. For example, sufferers are generally advised to avoid all physical sports where injuries might be common, including things like football and boxing. It’s also usually important that patients avoid taking aspirin or any other drugs that thin the blood. Some women with this disorder may have various issues during menstruation, and they might need to be watchful of anemia symptoms.
In nearly all cases of Bernard-Soulier syndrome, it is inherited from both the mother and the father. There are very rare situations where the same blood disorder may appear as part of another illness and only a few situations where only one parent can pass the disease along. The gene that causes this disorder has been identified. Many experts believe that the most promising treatment 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 lab tests.