Glanzmann's thrombasthenia
(Redirected from Thrombasthenia)
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| Glanzmann's thrombasthenia | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Prolonged bleeding, easy bruising, nosebleeds, gum bleeding, menorrhagia |
| Complications | Anemia, iron deficiency, hemorrhage |
| Onset | Birth |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the ITGA2B or ITGB3 genes |
| Risks | Family history of the condition |
| Diagnosis | Platelet aggregation test, flow cytometry, genetic testing |
| Differential diagnosis | Bernard-Soulier syndrome, von Willebrand disease, immune thrombocytopenic purpura |
| Prevention | N/A |
| Treatment | Platelet transfusion, recombinant factor VIIa, antifibrinolytics, bone marrow transplant |
| Medication | N/A |
| Prognosis | Variable, depends on severity and management |
| Frequency | Rare |
| Deaths | Rare, if managed properly |
Glanzmann's thrombasthenia is a rare, inherited bleeding disorder that results from a defect in platelet function. It is characterized by the inability of platelets to properly stick together and form clots to stop bleeding.
Symptoms[edit | edit source]
The most common symptoms of Glanzmann's thrombasthenia include nosebleeds, bruising, menorrhagia (heavy menstrual bleeding), and gum bleeding. In severe cases, patients may experience gastrointestinal bleeding, hematuria (blood in urine), and intracranial hemorrhage (bleeding in the brain).
Causes[edit | edit source]
Glanzmann's thrombasthenia is caused by mutations in the ITGA2B and ITGB3 genes. These genes provide instructions for making proteins that play a crucial role in platelet aggregation, a process necessary for normal blood clotting.
Diagnosis[edit | edit source]
Diagnosis of Glanzmann's thrombasthenia is based on clinical symptoms, family history, and specialized blood tests. These tests may include platelet aggregation tests, flow cytometry, and genetic testing.
Treatment[edit | edit source]
Treatment for Glanzmann's thrombasthenia is aimed at controlling bleeding episodes and preventing bleeding during surgical procedures. This may involve platelet transfusions, antifibrinolytic medicines, and recombinant factor VIIa.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
