What is the definition of 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. 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

What are the alternative names for MYH9 Related Thrombocytopenia?

  • MYH9 related disorders
  • Sebastian syndrome (subtype)
  • May-Hegglin anomaly (subtype)
  • Fechtner syndrome (subtype)
  • Epstein syndrome (subtype)
  • MYH9-RD
  • MYH9-related disease
  • MYH9-related disorder
  • MYH9-related syndrome
  • MYH9-related syndromic thrombocytopenia
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss

What are the current treatments for MYH9 Related Thrombocytopenia?

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.

There are no recent clinical trials available for this condition. Please check back because new trials are being conducted frequently.