MAY HEGGLIN ANOMALY

Course overview

MAY-HEGGLIN ANOMALY (MHA) IS A RARE AUTOSOMAL DOMINANT DISEASE CHARACTERIZED BY NEUTROPHILS WITH ABNORMAL CYTOPLASMIC INCLUSIONS, LARGE PLATELETS, AND VARIABLE THROMBOCYTOPENIA. MAY-HEGGLIN ANOMALY IS A MEMBER OF A GROUP OF DISEASES ASSOCIATED WITH MYOSIN HEAVY CHAIN SINGLE GENE DEFECTS THAT REPRESENT HEREDITARY FORMS OF MACROTHROMBOCYTOPENIA ASSOCIATED WITH LEUKOCYTE INCLUSIONS AND VARIABLE CLINICAL FEATURES SUCH AS SENSORINEURAL HEARING LOSS, PRESENILE CATARACTS, AND RENAL FAILURE. THIS GROUP ALSO INCLUDES FECHTNER SYNDROME, SEBASTIAN SYNDROME, AND EPSTEIN SYNDROME. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, ETIOLOGY, PRESENTATION AND TREATMENT OF MAY-HEGGLIN ANOMALY AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN PROVIDING CARE FOR AFFECTED INDIVIDUALS.