RT Journal Article
T1 Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
A1 Quijada-Fraile, Pilar
A1 Arranz Canales, Elena
A1 Martín-Hernández, Elena
A1 Ballesta-Martínez, María Juliana
A1 Guillén-Navarro, Encarna
A1 Pintos-Morell, Guillem
A1 Moltó-Abad, Marc
A1 Moreno-Martínez, David
A1 García Morillo, Salvador
A1 Blasco-Alonso, Javier
A1 Couce, María Luz
A1 Gil Sánchez, Ricardo
A1 Cortès-Saladelafont, Elisenda
A1 López Rodríguez, Mónica A
A1 García-Silva, María Teresa
A1 Morales Conejo, Montserrat
K1 Elosulfase alfa
K1 Health-related quality of life
K1 Mobility
K1 Morquio A syndrome
K1 Mucopolysaccharidosis IVA
AB Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults. The aim of this study was to describe the clinical manifestations of MPS IVA in adult patients in Spain and to assess their health-related quality of life (HRQoL). Thirty-three patients from nine reference centres participated in the study. The median age was 32 (interquartile range [IQR]: 20.5-40.5) years. The phenotype was classical in 54.5% of patients, intermediate in 33.3% of patients, and non-classical in 12.1% of patients. The most common clinical manifestation was bone dysplasia, with a median height of 118 (IQR: 106-136) cm. Other frequent clinical manifestations were hearing loss (75.7%), ligamentous laxity (72.7%), odontoid dysplasia (69.7%), limb deformities that required orthopaedic aids (mainly hip dysplasia and genu valgus) (63.6%), and corneal clouding (60.6%). In addition, 36.0% of patients had obstructive sleep apnoea/hypopnoea syndrome and 33.3% needed non-invasive ventilation. Cervical surgery and varisation osteotomy were the most common surgical interventions (36.4% each). Almost 80% of patients had mobility problems and 36.4% used a wheelchair at all times. Furthermore, 87.9% needed help with self-care, 33.3% were fully dependent, and 78.8% had some degree of pain. HRQoL according to the health assessment questionnaire was 1.43 (IQR: 1.03-2.00) in patients with the non-classical phenotype, but 2.5 (IQR: 1.68-3.00) in those with the classical phenotype. Seven patients were initiated on enzyme replacement therapy (ERT), but two of them were lost to follow-up. Lung function improved in four patients and slightly worsened in one patient. The distance achieved in the six-minute walk test increased in the four patients who could perform it. HRQoL was better in patients treated with elosulfase alfa, with a median (IQR) of 1.75 (1.25-2.34) versus 2.25 (1.62-3.00) in patients not treated with ERT. The study provides real-world data on patients with MPS IVA. Limited mobility, difficulties with self-care, dependence, and pain were common, together with poor HRQoL. The severity and heterogeneity of clinical manifestations require the combined efforts of multidisciplinary teams.
YR 2021
FD 2021-11-03
LK https://hdl.handle.net/10668/24505
UL https://hdl.handle.net/10668/24505
LA en
DS RISalud
RD Apr 5, 2025