dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Quijada‑Fraile, Pilar |
dc.contributor.author | Arranz Canales, Elena |
dc.contributor.author | Martín‑Hernández, Elena |
dc.contributor.author | Ballesta‑Martínez, María Juliana |
dc.contributor.author | Guillén‑Navarro, Encarna |
dc.contributor.author | Pintos Morell, Guillem |
dc.contributor.author | Moltó Abad, Marc Miquel |
dc.contributor.author | Moreno Martinez, David |
dc.date.accessioned | 2022-05-18T07:31:32Z |
dc.date.available | 2022-05-18T07:31:32Z |
dc.date.issued | 2021-11-03 |
dc.identifier.citation | Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, et al. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience. Orphanet J Rare Dis. 2021 Nov 3;16:464. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/7540 |
dc.description | Elosulfase alfa; Health-related quality of life; Morquio A syndrome |
dc.description.abstract | Background
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).
Results
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.
Conclusions
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. |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;16 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties rares - Tractament |
dc.subject | Metabolisme, Errors congènits del - Tractament |
dc.subject | Enzims - Ús terapèutic |
dc.subject.mesh | Mucopolysaccharidosis IV |
dc.subject.mesh | /drug therapy |
dc.subject.mesh | Enzyme Replacement Therapy |
dc.subject.mesh | Quality of Life |
dc.title | Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-021-02074-y |
dc.subject.decs | mucopolisacaridosis IV |
dc.subject.decs | /farmacoterapia |
dc.subject.decs | tratamiento de sustitución enzimática |
dc.subject.decs | calidad de vida |
dc.relation.publishversion | https://doi.org/10.1186/s13023-021-02074-y |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Quijada-Fraile P, Martín-Hernández E] Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias, Servicio de Pediatría, Hospital Universitario 12 de Octubre, CSUR Enfermedades Metabólicas, MetabERN, Instituto de Investigación Sanitaria Hospital 12 de octubre (imas12), CIBERER, Madrid, Spain. [Arranz Canales E] Servicio de Medicina Interna, CSUR Enfermedades Metabólicas, MetabERN, Instituto de Investigación Sanitaria Hospital 12 de octubre (imas12), Hospital Universitario 12 de Octubre, Madrid, Spain. [Ballesta-Martínez MJ, Guillén-Navarro E] Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB Arrixaca, Universidad de Murcia, Murcia, Spain. CIBERER-ISCIII, Madrid, Spain. [Pintos-Morell G, Moltó-Abad M] Divisió de Malalties Minoritàries, Centre de Referència de Trastorns Metabòlics Hereditaris, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Moreno-Martínez D] Divisió de Malalties Minoritàries, Centre de Referència de Trastorns Metabòlics Hereditaris, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Lysosomal Storage Disorders Unit, The Royal Free Hospital NHS Foundation Trust and University College London, London, UK |
dc.identifier.pmid | 34732228 |
dc.identifier.wos | 000714370500004 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |