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

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565075/
https://www.ncbi.nlm.nih.gov/pubmed/34732228
http://dx.doi.org/10.1186/s13023-021-02074-y
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author 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
author_facet 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
author_sort Quijada-Fraile, Pilar
collection PubMed
description 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.
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spelling pubmed-85650752021-11-04 Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience 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 Orphanet J Rare Dis Research 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. BioMed Central 2021-11-03 /pmc/articles/PMC8565075/ /pubmed/34732228 http://dx.doi.org/10.1186/s13023-021-02074-y Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
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
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title_full Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title_fullStr Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title_full_unstemmed Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title_short Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
title_sort clinical features and health-related quality of life in adult patients with mucopolysaccharidosis iva: the spanish experience
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8565075/
https://www.ncbi.nlm.nih.gov/pubmed/34732228
http://dx.doi.org/10.1186/s13023-021-02074-y
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