Glanzmann thrombasthenia
Glanzmann's disease; Thrombasthenia - GlanzmannGlanzmann thrombasthenia is a rare disorder of blood platelets. Platelets are particles in the blood that aid in blood clotting.
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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 plug up bleeding spots and begin forming a clot.
The condition is congenital, which means it is present from birth. There are several genetic abnormalities that can cause the condition.
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Symptoms
Symptoms may include any of the following:
- Heavy bleeding during and after surgery
- Bleeding gums
- Bruising easily or pinpoint red spots on the skin
- Heavy menstrual bleeding
- Nosebleeds that do not stop easily
- Prolonged bleeding with minor injuries
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Exams and Tests
The following tests may be used to diagnose this condition:
- Complete blood count (CBC)
- Platelet aggregation test
- Platelet function analysis (PFA)
- Prothrombin time (PT) and partial thromboplastin time (PTT)
Other tests may be needed. Family members may also need to be tested.
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Treatment
There is no specific treatment for this disorder. Platelet transfusions may be given to people who are having severe bleeding.
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Support Groups
More information and support for people with Glanzmann thrombasthenia and their families can be found at:
- Genetic and Rare Diseases Information Center (GARD) -- rarediseases.info.nih.gov/diseases/2478/glanzmann-thrombasthenia
- National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/glanzmann-thrombasthenia/
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Outlook (Prognosis)
Glanzmann thrombasthenia is a lifelong condition, and there is no cure. You should take special steps to try to avoid bleeding if you have this condition.
Anyone with a bleeding disorder should avoid taking aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen and naproxen. These drugs can prolong bleeding times by preventing platelets from clumping.
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Possible Complications
Complications may include:
- Severe bleeding
- Iron deficiency anemia in menstruating women due to abnormally heavy bleeding
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When to Contact a Medical Professional
Contact your health care provider if:
- You have bleeding or bruising of an unknown cause
- Bleeding does not stop after usual treatments
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Prevention
Glanzmann thrombasthenia is an inherited condition. There is no known prevention.
References
Neff AT. Von Willebrand disease and hemorrhagic abnormalities of platelet and vascular function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 164.
Samji N, Chan A, Bhatt MD. Bleeding and clotting disorders in pediatrics. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 148.