The impact of liver transplantation on health-related quality of life in (acute) intoxication-type inborn errors of metabolism.
J Inherit Metab Dis
; 46(5): 906-915, 2023 09.
Article
in En
| MEDLINE
| ID: mdl-37395264
ABSTRACT
Organic acidurias (OAs), urea-cycle disorders (UCDs), and maple syrup urine disease (MSUD) belong to the category of intoxication-type inborn errors of metabolism (IT-IEM). Liver transplantation (LTx) is increasingly utilized in IT-IEM. However, its impact has been mainly focused on clinical outcome measures and rarely on health-related quality of life (HRQoL). Aim of the study was to investigate the impact of LTx on HrQoL in IT-IEMs. This single center prospective study involved 32 patients (15 OA, 11 UCD, 6 MSUD; median age at LTx 3.0 years, range 0.8-26.0). HRQoL was assessed pre/post transplantation by PedsQL-General Module 4.0 and by MetabQoL 1.0, a specifically designed tool for IT-IEM. PedsQL highlighted significant post-LTx improvements in total and physical functioning in both patients' and parents' scores. According to age at transplantation (≤3 vs. >3 years), younger patients showed higher post-LTx scores on Physical (p = 0.03), Social (p < 0.001), and Total (p =0.007) functioning. MetabQoL confirmed significant post-LTx changes in Total and Physical functioning in both patients and parents scores (p ≤ 0.009). Differently from PedsQL, MetabQoL Mental (patients p = 0.013, parents p = 0.03) and Social scores (patients p = 0.02, parents p = 0.012) were significantly higher post-LTx. Significant improvements (p = 0.001-0.04) were also detected both in self- and proxy-reports for almost all MetabQoL subscales. This study shows the importance of assessing the impact of transplantation on HrQoL, a meaningful outcome reflecting patients' wellbeing. LTx is associated with significant improvements of HrQol in both self- and parent-reports. The comparison between PedsQL-GM and MetabQoL highlighted that MetabQoL demonstrated higher sensitivity in the assessment of disease-specific domains than the generic PedsQL tool.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Liver Transplantation
/
Urea Cycle Disorders, Inborn
/
Maple Syrup Urine Disease
Type of study:
Observational_studies
/
Risk_factors_studies
Aspects:
Patient_preference
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
Language:
En
Journal:
J Inherit Metab Dis
Year:
2023
Document type:
Article
Affiliation country:
Italy