Fechtner syndrome

Fechtner syndrome is a rare inherited disorder classified among the MYH9-related disorders (MYH9-RD), which are caused by mutations in the MYH9 gene encoding non-muscle myosin heavy chain IIA. It is also known as macrothrombocytopenia with nephritis, deafness, and leukocyte inclusions. Fechtner syndrome shares features with other MYH9-related conditions such as May-Hegglin anomaly, Sebastian syndrome, and Epstein syndrome, and some experts consider these conditions to represent a clinical spectrum rather than distinct entities. The syndrome affects multiple body systems. Hematologically, patients present with macrothrombocytopenia (large platelets with reduced platelet counts), which can lead to a variable bleeding tendency ranging from mild bruising to more significant hemorrhage. Characteristic Döhle-like leukocyte inclusion bodies (composed of abnormal myosin aggregates) are found in neutrophils on blood smear examination. Beyond the blood, Fechtner syndrome is distinguished by sensorineural hearing loss, which may be progressive and can develop in childhood or later; nephritis (kidney inflammation) that can progress to renal failure; and presenile cataracts affecting the eyes. The renal involvement may manifest as proteinuria and hematuria, potentially advancing to end-stage kidney disease in some patients. There is no cure for Fechtner syndrome. Management is supportive and multidisciplinary. Bleeding episodes may require platelet transfusions, and patients should avoid antiplatelet medications. Hearing aids or cochlear implants may be considered for hearing loss. Renal function should be monitored regularly, and nephroprotective strategies such as angiotensin-converting enzyme (ACE) inhibitors may be used to slow progression of kidney disease. Cataracts can be managed surgically when vision is significantly impaired. Genetic counseling is recommended for affected families.

Common questions about Fechtner syndrome