Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI
Emine Genç, Canan Bilekyiğit Kurt, Naime Evrim Karadağ Saygi, Mehmet Mehdi Deveci, Emel Yilmaz Gümüş, Sebile Kılavuz, Özge Keniş Coşkun, Burcu Öztürk HişmiAbstract
Objectives
Musculoskeletal abnormalities are common to mucopolysaccharidoses (MPS) and can negatively affect the patient’s quality of life. Data on course of musculoskeletal findings of MPS type IVA and VI are very insufficient. This study aimed to document the effect of regular enzyme replacement therapy (ERT) on musculoskeletal system and quality of life.
Methods
Patients diagnosed with MPS type IVA and VI aged≥5 years who were observed in the paediatric metabolic diseases’ outpatient clinic and physical medicine and rehabilitation clinic of our centre were evaluated. The musculoskeletal examination was performed with paediatric walking arms, legs and spine system (pGALS) and quality of life was evaluated using the Paediatric Outcome Data Collection Instrument (PODCI) scale.
Results
A total of 14 patients were followed in 24 months. Six of them were diagnosed with MPS type IVA while eight of them were diagnosed with MPS type VI. Mean current age was 11.57 ± 4.91 years, mean age at diagnosis was 2.83 ± 2.71 years and the mean age at ERT initiation was 4.33 ± 3.49 years for all patients. There were no significant differences between the initial and final PODCI scores. The pGALS examination showed that there has been a significant decrease in lower extremity pathology scores from 3.53 ± 2.10 to 1.76 ± 1.23 (p=0.03) and a decrease in total pGALS scores from 12.30 ± 5.02 to 9.92 ± 4.55 (p=0.00) while there were no significant changes in upper extremity and spine pathology scores.
Conclusions
Current treatment regimens provide partial stabilization of musculoskeletal pathologies in patients with MPS, but do not lead to an improvement in quality of life in this aspect.