Bernard-Soulier syndrome (BSS) is a rare genetic disorder that causes issues with blood clotting. Blood clotting is your body’s process of stopping bleeding. In Bernard-Soulier syndrome, you have low platelet counts, a part of blood that’s important for clotting. If you have this condition, you must take extra precautions to avoid injuries.
Bernard-Soulier syndrome (BSS) is a rare disorder that affects the way your blood clots. Blood clotting is the process that keeps you from excessively bleeding when you’re injured.
Platelets and plasma, two components of your blood, play important roles in forming blood clots. People with Bernard-Soulier syndrome tend to have fewer platelets than usual (thrombocytopenia). Their platelets are also bigger than usual. Because of this, people with Bernard-Soulier syndrome usually bleed and bruise easily.
Bernard-Soulier syndrome is rare. Experts estimate that it affects only about 1 in 1 million people worldwide.
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Babies with Bernard-Soulier syndrome typically show symptoms early in life. People with Bernard-Soulier syndrome usually experience:
Bernard-Soulier syndrome is a genetic disorder, meaning you have it because of a gene change (mutation) present at birth. It’s also hereditary, meaning your parents pass down this gene mutation to you.
Bernard-Soulier syndrome occurs because of mutations in the GP1BA, GP1BB or GP9 genes. All of these genes affect how your body forms blood clots.
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Your healthcare provider uses blood tests to diagnose Bernard-Soulier syndrome. The blood tests check your platelet count and look for the gene mutations that cause Bernard-Soulier syndrome. Your provider may also look at your blood under a microscope to see if your platelets are unusually large. A test called a platelet flow cytometry measures the amount of glycoproteins 1BA, 1BB and 9 on the platelet surface.
Bernard-Soulier syndrome treatment usually focuses on preventing excessive bleeding and avoiding complications of BSS. Your healthcare provider may recommend that you:
Treatment for Bernard-Soulier syndrome may also include:
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There’s no way to prevent Bernard-Soulier syndrome. If you have the gene mutation that causes BSS or think you may, it’s a good idea to consider genetic testing and genetic counseling. A genetic counselor can help you understand the risks and effects of passing BSS to your children.
Most people with Bernard-Soulier syndrome can live typical lives. If you have BSS, you’ll have to take extra precautions to avoid injuries. For example, you may need to avoid participating in contact sports, which increases your risk of injuries.
You’ll also need to see your primary care provider regularly to stay in good overall health. You and your care team need to plan any elective surgeries carefully. You also may need a platelet transfusion before undergoing an operation.
If you have Bernard-Soulier syndrome or think you could, you may also want to ask your healthcare provider:
If you’re pregnant and have BSS, you’ll need care from high-risk obstetric and hematology healthcare providers. You need careful monitoring to measure your platelet counts and overall health. You may not be able to take certain types of anesthesia that pose bleeding risks during labor.
Your newborn will need regular tests to monitor their platelet count. There’s a chance you’ll pass the gene mutation that causes BSS to your baby.
Bernard-Soulier syndrome mainly causes problems with blood clotting. If you have BSS, blood clotting problems often cause excessive bleeding or easy bruising after an injury.
Several conditions may cause similar bleeding problems and symptoms as BSS, including:
A note from Cleveland Clinic
Bernard-Soulier syndrome (BSS) is a rare disorder that you inherit from your parents. If you have this condition, you’ll likely have some issues with blood clotting. But this doesn’t mean you can’t live a typical life. You may need to be careful to avoid certain activities that increase your risk of injuries that could lead to excessive bleeding. Plan to visit your primary care provider regularly. Your provider can answer any questions, help you manage your condition and work with you to maintain your overall health.
Last reviewed on 09/02/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy