Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

Orphanet Journal of Rare Diseases

Christina Lampe⁴  Lisa Bell²  Mohit Jain³  Sema Kalkan Ucar⁵  Mahmut Coker⁵  Christine Lavery⁶  Christian J Hendriksz¹ 

[1] Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, UK;BioMarin Pharmaceutical Inc, Novato, CA, USA;BioMarin Europe Ltd, London, UK;Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany;Department of Pediatric Metabolism, Faculty of Medicine, Ege University, Izmir, Turkey;Society for Mucopolysaccharide Diseases, Buckinghamshire, UK

关键词: EQ-5D-5L;    Fatigue;    Pain measurement;    Mobility;    Wheelchairs;    Quality of life;    Patient-reported outcomes;    Morquio A syndrome;    Mucopolysaccharidosis IV;   

Others  :  863238
DOI  :  10.1186/1750-1172-9-32

 received in 2013-12-17, accepted in 2014-02-18,  发布年份 2014

【 摘 要 】

Background

Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL).

Methods

This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (≥18 years, N = 27) and children (7-17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired.

Results

The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and –0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively).

64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue.

Conclusions

The HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.

【 授权许可】

   
2014 Hendriksz et al.; licensee BioMed Central Ltd.

【 图 表 】

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