MYH9 related thrombocytopenia
Other Names for this Disease
- Alport syndrome with leukocyte inclusions and macrothrombocytopenia
- Alport syndrome with macrothrombocytopenia
- Epstein syndrome
- Fechtner syndrome
- Macrothrombocytopenia with leukocyte inclusions
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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.
Last updated: 1/21/2014
- Savoia A, Balduini CL. MYH9-Related Disorders. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK2689/. Accessed 4/11/2012.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- ClinicalTrials.gov lists trials that are studying or have studied MYH9 related thrombocytopenia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.