MULTIPLE EPIPHYSEAL DYSPLASIA – THE NOTTINGHAM EXPERIENCE

Abstract

This is a case series of 25 patients with Multiple Epiphyseal Dysplasia (MED), a genetically determined disorder characterised by abnormal ossification of multiple epiphyses. The Nottingham Skeletal Dysplasia Clinic has run since 1966. In 1994 it combined with the Clinical Genetics Service providing care to patients from throughout the region. We collected data on MED patients with follow up of 1 to 41 years (average 12 years) and described their presenting symptoms, genetic, clinical and radiographic features. We followed the natural history and vast array of treatments.

From the genetic point of view, 90% of patients counselled had typical AD-MED and 10% syndromic MED. Seven families opted to have testing. There were MATN3 mutations in 10% of the cohort, with marked intra-familial variability of phenotype. The average age at presentation was thirteen, with 80% of patients presenting before their sixteenth birthday. A third was seen because of a known family history of MED. Newly diagnosed index patients tended to present later. The most commonly affected joint at presentation was the hip and the most common knee deformity genu valgum. Symptoms progressed with time and joints not clinically affected at presentation became symptomatic later. Sixty percent of patients had further joint involvement within 10 years of diagnosis. Treatment ranged from orthotics to arthroplasty. Half of patients required surgical intervention at least once. Six patients underwent hip arthroplasty at an average age of 37.

MED is a rare diagnosis but has significant impact on the quality of life of those diagnosed, who require the support of a multidisciplinary team from an early age. This is not only to help manage symptoms and preserve function, but also to counsel on the progressive nature and the genetic aspects of the disorder.