A rare inherited bleeding disorder, Glanzmann thrombasthenia causes prolonged bleeding and impaired clotting. Here's what you need to know:
Causes
The gene responsible for encoding glycoprotein IIb/IIIa (GP IIb/IIIa), which plays a crucial role in platelet aggregation and clot formation, is mutated in Glansmann thrombasthenia. As a result of these mutations, platelet aggregation is impaired and clot formation is impaired, resulting in reduced or dysfunctional GP IIb/IIIa receptors.
Symptoms
There can be a variety of symptoms associated with Glanzmann thrombasthenia, including:
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Easy bruising
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Bleeding from minor injuries or mucous membranes for an extended period of time
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Traumatic or surgical bleeding that is excessive
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Epistaxis (nosebleeds)
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Gums that are bleeding
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Menorrhagia (heavy menstrual periods)
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Urine or stool containing blood
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Hemarthrosis (bleeding into joints)
Diagnosis
Clinical evaluation and laboratory tests are required to diagnose Glanzmann thrombasthenia, including:
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Test for measuring the time it takes for bleeding to stop from a standardized skin incision.
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Using platelet agonists such as adenosine diphosphate (ADP) or collagen, laboratory tests assess platelet aggregation and function.
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GP IIb/IIIa receptor mutations can be identified through genetic sequencing to confirm the diagnosis of Glanzmann thrombasthenia.
Treatment
Glanzmann thrombasthenia is treated by managing bleeding episodes and preventing complications. Common interventions include:
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Infusion of platelet concentrates to increase platelet counts and improve clot formation during bleeding episodes or before surgery.
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In order to stabilize blood clots and reduce bleeding, antifibrinolytic medications may be prescribed, such as tranexamic acid.
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The administration of desmopressin (DDAVP) stimulates the release of von Willebrand factor and temporarily enhances platelet function.
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Aspirin and nonsteroidal anti-inflammatory drugs (NSAIDs) should be avoided because they impair platelet function.
Prevention
As Glanzmann thrombasthenia is an inherited genetic condition, it cannot be prevented. However, individuals with a family history of the condition may benefit from genetic counseling to understand their risk.
Conclusion
GP IIb/IIIa receptor mutations in platelets cause Glanzmann thrombasthenia, a rare inherited bleeding disorder characterized by impaired clot formation and prolonged bleeding. A clinical evaluation, laboratory test, and genetic test are all required for diagnosis. It is caused by mutations in the genes that encode these receptors. In addition to managing bleeding episodes and preventing complications, genetic counseling is recommended to individuals with a family history of the condition.
