Bernard-Soulier Syndrome

Bernard-Soulier Syndrome is a bleeding disorder that causes the body to have a low number of platelets in the blood and/or for these platelets to not work correctly.  Platelets are cells in the blood that help stop bleeding after injury occurs.  When bleeding starts (inside or outside of the body) platelets turn on and go to the site of the broken blood vessels where they clump together and stick to the blood vessel wall to form the beginning of a blood clot.  Once platelets have turned on, they release chemicals that trigger other platelets to come to stick to the blood clot.   In Bernard-Soulier, platelets cannot stick well to the blood vessel wall and cannot clump together well because they have a defect.  This can cause prolonged bleeding or bleeding that stops and then starts back up again.

Bernard-Soulier Syndrome is a very rare inherited bleeding disorder.  One or both parents can pass the abnormal gene to their child.  If one parent passes the gene to their child, it is called heterozygous and usually symptoms are minimal.  If both parents pass the affected gene to their child, it is called homozygous and makes the risk for much bleeding higher because both genes are affected.

Signs and Symptoms 

  • Increased bruising and/or bruises that take a long time to heal
  • Prolonged bleeding from injuries
  • Nosebleeds
  • Bleeding gums
  • Excessive/prolonged bleeding from a circumcision
  • Excessive/prolonged bleeding from surgeries
  • Heavy or prolonged menstrual bleeding

Diagnosing Bernard-Soulier Syndrome

When testing for Bernard-Soulier Syndrome, a series of blood testing will need to be done and a detailed bleeding history will be taken.  People who should be tested for Bernard-Soulier Syndrome include:

  • Someone with a parent or sibling diagnosed with a Bernard-Soulier Syndrome
  • Someone with a family member or members diagnosed with Bernard-Soulier Syndrome, whose parents may be related and/or are experiencing bleeding symptoms
  • Someone who has had an abnormal platelet aggregation test with signs and symptoms of bleeding
  • Someone with large platelets who have bleeding symptoms

TREATMENT

Platelets

The treatment for Bernard-Soulier Syndrome is a platelet infusion.  A platelet infusion is a transfusion of platelets, donated from another person, which is given in a vein.  These infusions will provide platelets that work correctly and will help the body to stop bleeding. Mostly, people diagnosed with Bernard-Soulier Syndrome only need treatment when injury occurs, before more invasive dental work and before surgeries.

Amicar/Lysteda (Aminocaproic Acid/Tranexamic Acid)

Amicar and Lysteda are oral medications that work very well for bleeding of mucous membranes such as nose and mouth bleeding.  Lysteda is also used for heavy menstrual bleeding.  When bleeding occurs, the body tries to heal the area by making a clot that will plug the hole to stop bleeding. This clot will stay there for about four days.  After these four days, chemicals in the body are triggered to breakdown the clot. This is called fibrinolysis. Amicar and Lysteda are called anti-fibrinolytic medications because it stops fibrinolysis. A person with a bleeding disorder needs more time for healing because they cannot make a strong clot to heal the area of bleeding. Amicar and Lysteda stops the body from breaking the clot down.  This gives the blood vessels more time to completely heal and prevents prolonged bleeding and rebleeding.  

Complications

Bleeding can occur anywhere in the body.  Usually bleeding is caused by injury, surgery or dental procedures.

Complications from Bernard-Soulier Syndrome can include:

  • Prolonged bleeding leading to anemia
  • Bleeding in joints leading to arthritis or damage to joints
  • Damage to the brain (Head injury resulting to bleeding inside the skull)
  • Difficulty breathing (Due to bleeding in the neck or lungs after injury)
  • Paralysis (Due to bleeding in the spinal column after injury)