What is Glanzmann Thrombasthenia and how does it present itself in patients?
One day, Swathi sensed unusual bleeding in her gut. It was not severe, but enough to be of concern. She visited her physician several times and underwent imaging to identify the source of the bleeding. Her physicians started investigations to ascertain the cause, and that was the moment when her life took a sudden turn.
Swathi was diagnosed with a rare genetic platelet disorder, Glanzmann Thrombasthenia. Due to this rare bleeding disorder, when she bleeds, her platelets adhere to the site of the injury, but do not effectively clump together to stop the bleeding. Her tissues are easily irritated and the ordinarily harmless scope used in the procedure cause an injury. The big blood clots would break off, causing bleeding, tremors, and unbearable pain. Swathi was informed that she now needs periodic blood transfusions throughout her life, and thus has built-up antibodies. Swathi gets three or four units of platelets with every infusion of blood clotting factor that helps her blood clot.
Glanzmann Thrombasthenia is a rare bleeding disorder whose symptoms are similar to haemophilia. It is caused by an abnormality in the genes for glycoproteins IIb/IIIa. These genes code for a group of linked proteins normally found on the surface of platelets. Platelets do not stick to each other at the site of injury, and it is difficult for the blood to clot because a receptor called fibrinogen is absent or is not working properly.
Glanzmann Thrombasthenia is an autosomal recessive disorder, i.e., both parents carry an abnormal gene and pass it to their child. Like all autosomal recessive disorders, it is found more frequently in consanguineous marriage cases.
Glanzmann Thrombasthenia affects men and women in equal measure. Only around 300 documented cases of the disorder have been reported. This rare disease tends to occur more frequently in countries where intermarriage is more prevalent, i.e., it is more commonly found in regions such as India and the Middle East.
Patients with Glanzmann Thrombasthenia experience:
Glanzmann Thrombasthenia is treated with:
GT has become a well-understood congenital rare bleeding disorder of the platelet membrane surface. The available hemostatic agents for GT patients with bleeding, and unresponsive to conservative treatment or undergoing surgical procedures include platelet transfusion and rFVIIa. Though platelet transfusion is a traditional and effective treatment for GT patients, one disadvantage is that blood-borne pathogen transmissions, in particular bacterial infections, are a concern.
Extensive medical research is in progress to improve processes and to develop bacterial culture systems to lessen this risk. Recombinant FVIIa, as an alternative hemostatic agent, is reportedly effective, with a good safety profile. Vital progress has been made over the past few years in understanding the mechanisms of action of rFVIIa in achieving hemostasis in GT. Gene therapy is a curative therapy for the future, and its progress is impressive and promising.