Glanzmann Thrombasthenia

Glanzmann Thrombasthenia is a bleeding disorder that makes it hard for the body to stop bleeding.  It causes platelets to not work properly.  Platelets are little cells in the blood that help to stop bleeding.  When the body is hurt, blood vessels get broken and bleeding starts (inside or outside of the body).  At that time, platelets turn on and go to the site of the broken blood vessels where they clump together to form the beginning of a clot.  Once platelets have turned on, they release chemicals that trigger other clotting factors to come and finish making a clot.  These clotting factors are important to make a clot strong enough to stop bleeding.  In Glanzmann Thrombasthenia, platelets are not able to clump together or stick to the blood vessel wall.  This can cause bleeding to last longer, or to start back up after it stops, because the body cannot make a strong clot.
Glanzmann thrombasthenia 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 homozygous and usually symptoms are minimal.  If both parents pass the affected gene to their child, it is called heterozygous 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 Glanzmann thrombasthenia 

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

  • Someone with a parent or sibling diagnosed with a Glanzmann Thrombasthenia
  • Someone with a family member(s) diagnosed with Glanzmann
  • Thrombasthenia, 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

TREATMENT

Platelets

Platelet infusions are the treatment for a life-threatening bleeding episode/injury only.  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.  Each time someone is exposed to platelets from another person, the body can develop an antibody that can block the platelets from working in the future.  Glanzmann Thrombasthenia is a moderate to severe bleeding disorder that can result in many episodes of bleeding.  It is important that the body allows donor platelets given in a platelet infusion to work during life-threatening situations for the best chance at survival.

Clotting Factor

High doses of factor VII (7) clotting protein have been shown to stop bleeding in people diagnosed with Glanzmann Thrombasthenia.  Factor VII (7) clotting protein is given in the vein and should be used in most bleeding episodes to preserve exposure to platelets to life-threatening situations only.

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 Glanzmann Thrombasthenia 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)