Show simple item record

 
dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorQuijada‑Fraile, Pilar
dc.contributor.authorArranz Canales, Elena
dc.contributor.authorMartín‑Hernández, Elena
dc.contributor.authorBallesta‑Martínez, María Juliana
dc.contributor.authorGuillén‑Navarro, Encarna
dc.contributor.authorPintos Morell, Guillem
dc.contributor.authorMoltó Abad, Marc Miquel
dc.contributor.authorMoreno Martinez, David
dc.date.accessioned2022-05-18T07:31:32Z
dc.date.available2022-05-18T07:31:32Z
dc.date.issued2021-11-03
dc.identifier.citationQuijada-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.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11351/7540
dc.descriptionElosulfase alfa; Health-related quality of life; Morquio A syndrome
dc.description.abstractBackground 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.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectMalalties rares - Tractament
dc.subjectMetabolisme, Errors congènits del - Tractament
dc.subjectEnzims - Ús terapèutic
dc.subject.meshMucopolysaccharidosis IV
dc.subject.mesh/drug therapy
dc.subject.meshEnzyme Replacement Therapy
dc.subject.meshQuality of Life
dc.titleClinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-02074-y
dc.subject.decsmucopolisacaridosis IV
dc.subject.decs/farmacoterapia
dc.subject.decstratamiento de sustitución enzimática
dc.subject.decscalidad de vida
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-02074-y
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut 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.pmid34732228
dc.identifier.wos000714370500004
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record