Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

Media type: E-Article
Title: Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
Contributor: Quijada-Fraile, Pilar; Arranz Canales, Elena; Martín-Hernández, Elena; Ballesta-Martínez, María Juliana; Guillén-Navarro, Encarna; Pintos-Morell, Guillem; Moltó-Abad, Marc; Moreno-Martínez, David; García Morillo, Salvador; Blasco-Alonso, Javier; Couce, María Luz; Gil Sánchez, Ricardo; Cortès-Saladelafont, Elisenda; López Rodríguez, Mónica A.; García-Silva, María Teresa; Morales Conejo, Montserrat
Published: Springer Science and Business Media LLC, 2021
Published in: Orphanet Journal of Rare Diseases, 16 (2021) 1
Language: English
DOI: 10.1186/s13023-021-02074-y
ISSN: 1750-1172
Keywords: Pharmacology (medical) ; Genetics (clinical) ; General Medicine
Origination:
Footnote:
Description: <jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme <jats:italic>N</jats:italic>-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorly understood in adults.</jats:p> <jats:p>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).</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>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.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>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.</jats:p> </jats:sec>
Access State: Open Access

Search in field:

Recently searched for: