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BERNARD-SOULIER SYNDROME

Men's Health, Women's Health / By

BERNARD-SOULIER SYNDROME

Bernard -Soulier syndrome is a rare genetic disorder characterized by abnormal platelets.

  • Platelets are tiny blood cells that help the body form clots to stop bleeding.
  • If an injury occurs to one of the blood vessels, you start to bleed
  • The platelets rush to the site of the injury and form a clot to plug the hole in the blood vessel and stop the bleeding
  • However, in Bernard-Soulier syndrome, platelets are unusually large and fewer in number, subsequently leading to a prolonged bleeding time.
  • This condition is a giant platelet disorder, as it is characterized by abnormally large platelets.
  • Bernard-Soulier syndrome affects both male and female and is common in the part of the world where marriage between close relatives are prevalent.
  • According to estimates, the condition affects 1 1in a million people.

CAUSES

A Bernard-Soulier disorder is a genetic disorder inherited in an autosomal recessive genetic pattern.

An autosomal recessive genetic pattern is one of the several ways that a trait disorder can be passed down through families

Autosomal recessive occurs when two abnormal genes are inherited, one from each parent. This means that both parents must carry the defective gene and transmit the gene to the child for the child to have the condition.

Individual with this condition have their platelet missing an essential protein called glycoprotein 1b/IX/V complex (GP1b). The GP1b complex is made up of 4 protein subunits that closely binds together; GP1b-alpha, GP1b-beta, GP9, and GP5). Mutations in one of these genes result in BSS.  GP1b alpha, GP1b-beta, GP 9 have been found to be involved. Mutations are yet to be found in GP5.

These mutations do not allow the GP1b complex to bind to the von Willebrand factor (another protein found in the circulating blood), which in turn allows platelets to stick to the site of injury to begin the clotting process and prevent excessive bleeding.

SYMPTOMS

  • Easy bruising
  • Heavy menstrual bleeding or childbirth-related bleeding in women
  • Excessive bleeding after injury or surgery
  • In rare cases Black or red colored stool or vomit due to bleeding from the gut
  • Nosebleeds
  • Bleeding gums

DIAGNOSIS AND TREATMENT

To make a diagnosis, the doctor may carry out:

  • Blood tests to reveal whether platelets are abnormally low.
  • Microscopic examination to detect the presence of abnormal platelets including abnormally large and irregularly shaped platelets.
  • Molecular genetic testing to detect the genes carrying the mutation.
  • Flow cytometry
  • A bleeding time test that gives the time it takes for a small cut to stop bleeding.
TREATMENT

Most individuals with this condition only need treatment during medical procedures, after accidents or injury, or when there is a risk for life-threatening hemorrhage.

A severe bleeding episode may require blood and platelets transfusion.

People with this condition should not take drugs that may impact blood clotting or platelets functions such as non-steroidal anti-inflammatory drugs like aspirin, or ibuprofen, and blood thinners.

Hormonal contraceptives or intra-uterine devices (IUDs) may help to control excessive menstrual bleeding in women with the disorder.

In people who bleed so much that they have anemia, iron replacements may be recommended.

Antifibrinolytic drugs

Affected individual should avoid contac