Epstein syndrome

Epstein syndrome is a rare inherited disorder classified among the MYH9-related diseases (MYH9-RD). It is caused by mutations in the MYH9 gene, which encodes non-muscle myosin heavy chain IIA, a protein important for the structure and function of platelets, kidneys, inner ear, and eyes. Epstein syndrome is characterized by the triad of macrothrombocytopenia (abnormally large platelets with reduced platelet counts), sensorineural hearing loss, and nephritis (kidney inflammation that can progress to end-stage renal disease). Unlike the closely related Fechtner syndrome, Epstein syndrome does not feature Döhle body-like leukocyte inclusions visible on routine light microscopy, though ultrastructural inclusions in white blood cells may be present. The thrombocytopenia is typically present from birth and may cause mild to moderate bleeding tendencies, including easy bruising, prolonged bleeding from cuts, and heavy menstrual periods in affected women. Sensorineural hearing loss usually develops during childhood or adolescence and can be progressive. Kidney disease, which may manifest as proteinuria and hematuria, can progress over time and in some cases leads to kidney failure requiring dialysis or transplantation. Some patients may also develop cataracts. There is no cure for Epstein syndrome. Management is supportive and multidisciplinary, involving hematologists, nephrologists, audiologists, and ophthalmologists. Platelet transfusions may be needed for significant bleeding episodes or surgical procedures. Hearing aids or cochlear implants can help manage hearing loss. Kidney disease is managed with standard nephroprotective strategies, including angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers to reduce proteinuria. Regular monitoring of renal function, hearing, and vision is essential for early intervention.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Epstein syndrome