Joint Space Widening in Multiple Epiphyseal Dysplasia

A 26-year-old man reported pain in both knees in the absence of previous trauma. The patient had been diagnosed in childhood with multiple epiphyseal dysplasia (MED) due to irregular epiphyseal ossification in both femurs while suffering from diffuse pain in the knee and hip joints as well as the lumbar spine. Clinical examination revealed unrestricted movement in both knees, no effusion, no pain on palpation, and stable ligaments. X-rays showed characteristic joint space widening with irregular flattening of the normally convex femoral condyles, indented lateral tibial plateau, and shallow intercondylar fossa (Figure). MED is a rare (prevalence: 1–9/100 000) monogenic skeletal dysplasia that is usually inherited in an autosomal dominant manner and leads to impaired endochondral ossification of the epiphyses of long bones, particularly the femur. The disorder is caused by mutations in the genes that code for extracellular matrix components, including the cartilage oligomeric matrix protein (COMP). As a pre-arthritic deformity, joint cartilage is already at high risk of early arthritis at a young age . The treatment goal is to delay arthroplasty for as long as possible by means of primarily conservative joint-preserving measures, joint-sparing sports activities, and occupational counseling.

Figure

Anteroposterior X-ray showing the characteristic joint space widening (red arrows), shallow intercondylar fossa (white arrow), irregular flattening of the normally convex femoral condyles (white asterisk), as well as indentation of the lateral tibial plateau (white arrowhead).

Prof. Dr. med. Henning Madry, Zentrum für Experimentelle Orthopädie, Homburg, [e-mail]

Conflict of interest statement: The authors state that no conflict of interest exists.

Translated from the original German by Christine Rye.

Cite this as: Madry H: Joint space widening in multiple epiphyseal dysplasia. Dtsch Arztebl Int 2023; 120: 830. DOI: 10.3238/arztebl.m2023.0020