What causes Glanzmann thrombasthenia?
Causes. Glanzmann thrombasthenia is caused by the lack of a protein that is normally on the surface of platelets. This substance is needed for platelets to clump together to form blood clots. The condition is congenital, which means it is present from birth.
What happens in Glanzmann thrombasthenia?
Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums.
How Glanzmann Thrombasthenia has an effect on clot retraction?
Glanzmann’s thrombasthenia (GT) is a genetic platelet surface receptor disorder of GPIIb/IIIa (ITG αIIbβ3), either qualitative or quantitative, which results in faulty platelet aggregation and diminished clot retraction. Spontaneous mucocutaneous bleeding is common and can lead to fatal bleeding episodes.
What medications can cause thrombocytopenia?
Some prescribed medications can also cause thrombocytopenia, including:
- ampicillin and other antibiotics.
- seizure medications, such as carbamazepine.
- sulfonamides, such as trimethoprim-sulfamethoxazole.
What is the pathophysiology of Glanzmann thrombasthenia?
Glanzmann thrombasthenia is inherited in an autosomal recessive pattern. An abnormality in either the gene for IIb (glycoprotein IIb; GPIIb) or the gene for β3 (glycoprotein IIIa; GPIIIa) results in an abnormal platelet IIbβ3 (GPIIb/IIIa) integrin family receptor and prevents platelets from forming a plug when bleeding occurs.
What is the international prospective Glanzmann thrombasthenia registry?
The international, prospective Glanzmann thrombasthenia registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. Haematologica. 2015;100(8):1031–1037. doi:10.3324/haematol.2014.121475 [PMC free article][PubMed] [CrossRef] [Google Scholar]
What tests are used to diagnose Glanzmann thrombosis?
Glanzmann thrombasthenia is definitively diagnosed by tests that determine if there is a deficiency of the aIIbβ3 (GPIIb/GPIIIa) receptor. These tests usually involve monoclonal antibodies and flow cytometry.
What medications are used to treat Glanzmann thrombasthenia?
In 2014, NovoSeven RT, a recombinant factor VIIa product, was approved to treat Glanzmann thrombasthenia. This medication is indicated to treat bleeding episodes and perioperative management when platelet transfusions are not effective. NovoSeven RT is manufactured by Novo Nordisk.