Description
In this presentation, Emily Dodwell provides an in-depth overview of Multiple Hereditary Exostoses (MHE), detailing its definitions, causes, epidemiology, clinical manifestations, classification, screening, treatment options, and outcomes. MHE, also referred to as hereditary multiple osteochondromas, is characterized by the presence of multiple osteochondromas, which are benign lesions on the bone surface. The speaker explains the genetic basis for MHE, noting that it is an autosomal dominant condition, primarily associated with mutations in the EXT-1 and EXT-2 genes. The incidence of MHE is approximately 1 in 50,000, with some populations showing higher prevalence.
Clinical features begin to emerge in childhood, with 96% of individuals displaying signs by age 12. Common findings include leg length discrepancies, short stature, and angular deformities. The presentation also highlights the risk of malignant transformation into chondrosarcoma, particularly in individuals with MHE.
Dodwell discusses the clinical management of MHE, emphasizing the importance of genetic testing and routine imaging for monitoring lesions. Treatment strategies are tailored to the patient's skeletal maturity, with procedures ranging from observation to surgical interventions like hemiepiphysiodesis and osteotomy for correcting deformities.
Additionally, the presentation touches on the challenges and considerations in treating MHE, including potential complications from surgery and the necessity of spinal surveillance due to a high incidence of osteochondromas in the spine. Emerging treatment strategies and recommendations for patient management are also addressed, concluding with an encouragement for ongoing surveillance and genetic counseling for affected individuals to improve understanding and outcomes.