BSS is a rare genetically inherited syndrome that can affect the way your blood clots. While dangerous in some situations, when well managed, it does not typically affect the life span.

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Bernard-Soulier syndrome (BSS) is an inherited bleeding disorder. People with this condition have abnormally large blood platelets.

This affects how their blood clots and can lead to symptoms such as easy bruising and heavy bleeding from minor injuries. Treatments, including platelet transfusions, can help people with this rare disorder lead full lives.

BSS is typically inherited when each parent carries a copy of the specific gene mutation. BSS is linked to mutated mutations on the GP9, GP1BB, and GP1BA genes that change how your blood clots. Generally, it takes two copies of a mutated BSS-linked gene for a person to experience symptoms of BSS. This is called an autosomal recessive genetic pattern.

People with one mutated BSS-linked gene are called carriers. Two carrier parents have a 25% chance of having a child with BSS each time they have a child. There’s a 50% chance of having a child who will be a BSS carrier themselves.

BSS is very rare. Only about 200 people have received a formal diagnosis of the disorder worldwide. It has an incidence rate of less than one in a million. But some researchers think the disorder is underdiagnosed. This means that the true incidence rate might be much higher.

Symptoms of BSS are caused by abnormal platelets and reduced blood clotting. They’re typically present at birth and last throughout a person with BSS’s life. They can include:

Despite symptoms of BSS typically in infancy, the average age to receive a diagnosis is 16 years old. This is likely because the rarity of the disorder makes it difficult to diagnose. Many people with this disorder might initially receive an incorrect diagnosis for their symptoms before a diagnosis of BSS is confirmed.

One of the primary treatment options for BSS is reducing the risk of too much bleeding. This can include steps such as avoiding the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and aspirin medications because they can increase bleeding and always using soft-bristled toothbrushes that reduce the risk of bleeding gums.

Other treatment options can include:

  • Platelet transfusions: Platelet transfusions are often used to treat people with BSS before surgeries and other procedures. They can also be used when people with BSS are at risk of severe blood loss.
  • Antifibrinolytic agents: Antifibrinolytic agents are medications that can slow down the processing of blood clots. They can be an option for people with BSS after minor procedures, such as dental surgery.
  • Iron supplements: Some people with BSS experience iron deficiency anemia because of the blood loss they experience. Iron supplements can help treat anemia.
  • Limiting alcohol and refined sugar: Alcohol and refined sugar can affect your platelet count.
  • Avoiding contact sports: It can be a good idea for people with BSS to avoid contact sports and other activities with a high risk of bruising and injuries.
  • Wearing a medical alert bracelet: Medical alert bracelets can give emergency service and other healthcare professionals quick information about your health. For people with BSS, an alert bracelet displaying their disorder can inform healthcare professionals of their risk of bleeding.

Are BSS treatments covered by insurance or Medicare?

Your coverage for BSS treatments will depend on your specific plan and on factors such as your location and primary healthcare professional. But many insurance plans offer coverage for treatments such as platelet transfusions and antifibrinolytic medications. You can check with your plan for details and for the costs associated with your coverage.

To get started, you can look up ICD-10 code D68.9. This is the code for unspecified coagulation defects, such as BSS. You can search this code with your insurance company or call and speak to a representative about your coverage.

What is the life expectancy of someone with Bernard-Soulier syndrome (BSS)?

BSS doesn’t typically affect life expectancy. Many people with the condition can lead full lives. But the disorder will need to be managed throughout a person’s life. Taking steps such as avoiding the risk of injuries and taking precautions before and after surgical procedures can help reduce your chance of complications.

BSS is a rare inherited blood disorder that changes how your blood clots. It leads to symptoms such as easy bruising and excessive bleeding. Treatment focuses on avoiding excessive bleeding in everyday life with steps such as avoiding NSAIDs and contact sports — as well as taking extra precautions before and after surgical procedures.

When well managed, BSS doesn’t typically affect life expectancy.