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What is Glanzmann Thrombasthenia?
An abnormality noted in the genes for glycoproteins IIb/IIIa receptor (also called the fibrinogen receptor present on the surface of the platelets) causes a disorder in the functioning of platelets known as Glanzmann Thrombasthenia. In this disorder, platelets fail to stick to each other at the injury site, in individuals in whom the receptor is absent or is not working properly, making clot formation difficult. This can lead to profuse bleeding from minor injuries. This autosomal recessive disorder can be inherited from parents only if both the parent transfer the genetic mutation. It is mainly seen in communities or regions where marriage between close relatives is common.
What are its main signs and symptoms?
The symptoms of Glanzmann thrombasthenia vary from individual to individual, from very mild to potentially life-threatening blood loss, with signs noticed right from childhood. The symptoms commonly seen include:
- Easy bruising
- Bleeding from nose and/or gums
- Blood in vomiting or in urine or stool (due to bleeding in the gut -gastrointestinal haemorrhage) or genito-urinary tract (urethra, kidneys, bladder and ureters)
- Abnormal bleeding post-circumcision, dental procedure or surgery
- Prolonged menstrual bleeding or after childbirth
What are the main causes?
The main cause of this condition is the genetic defect in either the gene for IIb (glycoprotein IIb; GPIIb) or the gene for β3 (glycoprotein IIIa; GPIIIa).
How is it diagnosed and treated?
Tests include:
- Bleeding time (time taken for bleeding to stop): It is usually longer than normal.
- Clotting time (time taken for formation of a platelet plug): It is typically longer than normal.
- Platelet aggregation test (Evaluating clumping of platelets with several different chemicals)
- Flow cytometry to detect GP IIb/IIIa which cannot be detected in blood samples.
The treatment for this condition is required mainly during surgical procedures and after injuries or accidents. This condition is treated with the following:
- Hormonal contraceptives (to treat excessive menstrual bleeding)
- Antifibrinolytic drugs or recombinant factor VIIa or fibrin sealants
- Excessive bleeding causes anaemia- so iron replacement therapy might be needed
- Severe bleeding requires platelet transfusions
- Drugs to be avoided include:
- Aspirin
- Nonsteroidal anti-inflammatory drugs (which includes ibuprofen, naproxen)
- Blood thinners
