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Genetic and Rare Diseases Information Center (GARD)

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MYH9 related thrombocytopenia

Other Names for this Disease
  • Epstein syndrome
  • Fechtner syndrome
  • May-Hegglin anomaly
  • MYH9 related disorders
  • Sebastian platelet syndrome
More Names
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Your Question

How do I get rid of MYH 9 related thrombocytopenia?

Our Answer

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What is MYH9-related thrombocytopenia?

MYH9-related thrombocytopenia (MYH9RD) is a genetic condition caused by mutations in the MYH9 gene and is characterized by large platelets and thrombocytopenia (low number of platelets) which increases the risk for mild to serious bleeding in the body or in the skin. Young-adult onset high frequency sensorineural hearing loss, presenile (early) cataract, and kidney disease also variably occurs in people with this condition.[1] This condition is inherited in an autosomal dominant fashion.  

The following conditions, once thought to be separate, are now known to be part of MYH9RD.

Epstein syndrome
Fechtner syndrome
May-Hegglin anomaly
Sebastian syndrome

Last updated: 1/22/2014

How is MYH9-related thrombocytopenia (MYH9RD) treated?

There is currently no cure for MYH9-related thrombocytopenia. Measures that can be taken to prevent bleeding episodes may include platelet transfusion, desmopressin, or antifibrinolytic drug administration prior to surgery or invasive procedures, and regular dental care to prevent bleeding of the gums. People with MYH9RD should avoid drugs that inhibit platelet function or blood coagulation, activities with high risk for injury, ototoxic drugs, hazardous noise, nephrotoxic agents (agents that are toxic to the kidneys), glucocorticoids (steroids) and radiation therapy. Bleeding episodes are treated with platelet transfusion and sometimes with desmopressin (this helps to shorten bleeding time in some people). People with bleeding episodes should be monitored for anemia. Once a year urine analysis (including 2-hour protein) and a measurement of serum concentration of creatinine should be done to monitor for kidney disease. Hearing and vision evaluations are needed every three years prior to onset of hearing loss and cataracts. Kidney complications, hearing loss, and cataracts are all managed in a standard fashion.[1]
Last updated: 1/21/2014