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

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 s...

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Autores principales:	Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Elosulfase alfa Health-related quality of life Mobility Morquio A syndrome Mucopolysaccharidosis IVA Medicine R
Acceso en línea:	https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
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spelling	oai:doaj.org-article:45d102193e154f53a8b2f74d26c527a52021-11-08T10:57:01ZClinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience10.1186/s13023-021-02074-y1750-1172https://doaj.org/article/45d102193e154f53a8b2f74d26c527a52021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02074-yhttps://doaj.org/toc/1750-1172Abstract 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.Pilar Quijada-FraileElena Arranz CanalesElena Martín-HernándezMaría Juliana Ballesta-MartínezEncarna Guillén-NavarroGuillem Pintos-MorellMarc Moltó-AbadDavid Moreno-MartínezSalvador García MorilloJavier Blasco-AlonsoMaría Luz CouceRicardo Gil SánchezElisenda Cortès-SaladelafontMónica A. López RodríguezMaría Teresa García-SilvaMontserrat Morales ConejoBMCarticleElosulfase alfaHealth-related quality of lifeMobilityMorquio A syndromeMucopolysaccharidosis IVAMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Elosulfase alfa Health-related quality of life Mobility Morquio A syndrome Mucopolysaccharidosis IVA Medicine R
spellingShingle	Elosulfase alfa Health-related quality of life Mobility Morquio A syndrome Mucopolysaccharidosis IVA Medicine R Pilar Quijada-Fraile Elena Arranz Canales Elena Martín-Hernández María Juliana Ballesta-Martínez Encarna Guillén-Navarro Guillem Pintos-Morell Marc Moltó-Abad David Moreno-Martínez Salvador García Morillo Javier Blasco-Alonso María Luz Couce Ricardo Gil Sánchez Elisenda Cortès-Saladelafont Mónica A. López Rodríguez María Teresa García-Silva Montserrat Morales Conejo Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience
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.
format	article
author	Pilar Quijada-Fraile Elena Arranz Canales Elena Martín-Hernández María Juliana Ballesta-Martínez Encarna Guillén-Navarro Guillem Pintos-Morell Marc Moltó-Abad David Moreno-Martínez Salvador García Morillo Javier Blasco-Alonso María Luz Couce Ricardo Gil Sánchez Elisenda Cortès-Saladelafont Mónica A. López Rodríguez María Teresa García-Silva Montserrat Morales Conejo
author_facet	Pilar Quijada-Fraile Elena Arranz Canales Elena Martín-Hernández María Juliana Ballesta-Martínez Encarna Guillén-Navarro Guillem Pintos-Morell Marc Moltó-Abad David Moreno-Martínez Salvador García Morillo Javier Blasco-Alonso María Luz Couce Ricardo Gil Sánchez Elisenda Cortès-Saladelafont Mónica A. López Rodríguez María Teresa García-Silva Montserrat Morales Conejo
author_sort	Pilar Quijada-Fraile
title	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_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_sort	clinical features and health-related quality of life in adult patients with mucopolysaccharidosis iva: the spanish experience
publisher	BMC
publishDate	2021
url	https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
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Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

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