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. 2014 Mar 7:9:32.
doi: 10.1186/1750-1172-9-32.

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

Christian J Hendriksz  1 , Christine Lavery, Mahmut Coker, Sema Kalkan Ucar, Mohit Jain, Lisa Bell, Christina Lampe
Affiliations

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

Christian J Hendriksz et al. Orphanet J Rare Dis. .

Abstract

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.

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Figures

Figure 1
Figure 1
Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adults (a) and children (b) with Morquio A according to wheelchair use/mobility level. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.
Figure 2
Figure 2
Health-related quality of life (HRQoL) measured using the EQ5D-5L questionnaire in adult patients with Morquio A according to employment status. A score of 1 indicates "perfect health", a score of 0 indicates "death". Negative values indicate "feeling worse than death". Presented as mean value and standard error of the mean.
Figure 3
Figure 3
Pain severity (a) and pain interference with daily activities (b) in adults with Morquio A according to wheelchair use/mobility level. Pain severity and pain interference were evaluated using the Brief Pain Inventory (BPI); 1 = no pain/no pain interference, 10 = worst pain ever/complete pain interference. Pain interference scores were unavailable for 2 of the 4 patients in the "no wheelchair" and for 3 of the 9 patients in the "always wheelchair" groups. Presented as mean score and standard error of the mean.
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