Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)

Mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of manifestations including joint contractures, short stature, dysostosis multiplex, coarse facial features, decreased pulmonary function, cardiac abnormalities, corneal clouding and shortened life span. Recently, clinicians from institutions in the Asia-Pacific region met to discuss the occurrence and implications of delayed diagnosis and misdiagnosis of MPS VI in the patients they have managed. Eighteen patients (44% female) were diagnosed. The most common sign presented by the patients was bone deformities in 11 patients (65%). Delays to diagnosis occurred due to the lack of or distance to diagnostic facilities for four patients (31%), alternative diagnoses for two patients (15%), and misleading symptoms experienced by two patients (15%). Several patients experienced manifestations that were subtler than would be expected and were subsequently overlooked. Several cases highlighted the unique challenges associated with diagnosing MPS VI from the perspective of different specialties and provide insights into how these patients initially present, which may help to elucidate strategies to improve the diagnosis of MPS VI. •Distance to diagnostic facilities delayed diagnosis for four patients (31%).•Two patients (15%) had delayed diagnosis due to alternative diagnoses.•Misleading symptoms were experienced by two patients (15%), also delaying diagnosis.•Unique challenges provide insights for different specialties.•Diagnostic challenges may elucidate strategies to improve the diagnosis of MPS VI.