From Joint Pain to Genetic Diagnosis: A Case of Multiple Epiphyseal Dysplasia

Introduction Multiple epiphyseal dysplasia (MED), or Fairbank disease, is a skeletal dysplasia caused by disorganized enchondral ossification, resulting in short stature, joint pain, and early osteoarthritis [1] . Six genes are linked to MED: five causing autosomal dominant MED (AD-MED: COMP, COL9A1, COL9A2, COL9A3, MATN3) and one causing autosomal recessive MED (rMED: SLC26A2). AD-MED affects about 1 in 10,000 individuals, with COMP variants accounting for at least 66% of cases [2] . Symptoms include fatigue, restricted motion, and periarticular pain in weight-bearing joints, often mimicking rheumatological or neurological diseases [3] . A detailed family history can help identify genetic causes. Radiographic evaluation is essential to detect delayed ossification and changes in epiphyses. We report a case of a child with MED. Case Presentation An 8-year-old girl presented with joint stiffness and gait changes, accompanied by limb fatigue and pain after walking long distances. On physical examination, her height was 135.5 cm (10th–25th percentile), and her weight was 35 kg (90th–97th percentile). She exhibited brachydactyly, finger joint laxity, and had a history of central precocious puberty. Her father had disproportionate short stature, short limbs, brachydactyly, and bilateral grade 4 hip arthrosis. Laboratory tests showed normal kidney/liver function, positive ANA (1:180), and microhematuria. Cystoscopy found no bleeding source. A skeletal X-ray revealed tibial bowing, abnormal pelvis, metaphyseal widening, and spinal curvature. Whole exome sequencing confirmed a heterozygous likely pathogenic COMP variant (c.1760A>T, p.His587Leu) inherited from her father, confirming a diagnosis of Multiple Epiphyseal Dysplasia (MED). Discussion MED is a genetically complex condition that often presents with vague and overlapping symptoms, making it challenging to identify early [4]. Imaging remains an essential tool, helping pinpoint characteristic skeletal abnormalities, further differentiating MED from other conditions. Conclusions This case underscores the importance of combining genetic testing with clinical and radiographic evaluations to achieve an accurate MED diagnosis. While MED has no cure or specific treatments that alter its course, early recognition allows for more targeted management strategies.