Patient-reported outcomes in Gaucher's disease: a systematic review
- Authors:
- Feng, J., Gao, Z., Shi, Z., Wang, Y., and Li, S.
- Abstract:
- BACKGROUND: Gaucher's disease (GD), a rare condition, represents the most common lysosomal storage disorder. The cardinal manifestations of GD are fatigue, hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and bone infarction, thereby culminating in a marked deterioration of patients' quality of life (QoL). Patient-reported outcomes (PROs) offer valuable insights into the impact of GD on patients' QoL and symptoms. This systematic review aimed to identify and analyze PROs and outcome measures in GD patients.
METHODS: We systematically searched PubMed, Web of Science Core Collections, EMBASE, SCOPUS, Cochrane Library, PsycINFO, Wan Fang Data, China National Knowledge Infrastructure (CNKI), and the Chinese Biomedical Literature Database (CBM). The methodological quality of the included studies was assessed using a mixed methods assessment tool.
RESULTS: A total of 33 studies were identified, encompassing 24 distinct patient-reported outcome instruments, with the most frequently employed instrument being the SF-36. The study designs included eighteen cross-sectional studies, seven pre- and post-intervention investigations, three randomized controlled trials, two cohort studies, two qualitative inquiries, and one validation study. These studies explored diverse domains such as the QoL and cardinal symptoms (e.g., fatigue, pain, bleeding, cognition, social relationships, and psychological functioning) in patients with GD. Furthermore, significant attention was directed towards the appraisal of the therapeutic benefits of various interventions in patients with GD. A novel GD-specific instrument has also been developed, which has two applied versions: a 24-item variant for routine clinical monitoring and a 17-item form for use in clinical trials.
CONCLUSION: PROs have garnered increased attention and concern in the realm of GD. Despite this progress, it is noteworthy that the instruments used to measure PROs in GD are still predominantly generic instruments. While researchers have endeavored to develop and validate a disease-specific instrument, currently the use of this instrument is limited. Owing to several challenges, including the small number of patients, heterogeneity of the disease, and cross-regional discrepancies in study findings, GD poses substantial difficulties in the measurement of QoL and development of instruments. Consequently, patients with GD require more dependable measurement instruments that accurately reflect their QoL, efficacy of treatment, and facilitate healthcare decision-making. - DOI:
- 10.1186/s13023-023-02844-w
- URL:
- https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-023-02844-w.pdf
- Journal:
- Orphanet J Rare Dis
- issn:
- 1750-1172
- Publication year:
- 2023
- pages:
- 244
- Overall quality of life:
- Overall quality of life
- Age:
- Adults (18-65)
Children (0-18) - Disease:
- Congenital malformations, deformations and chromosomal abnormalities and related symptoms
- PRO / non-PRO:
- Non-patient Reported Outcome
Patient Reported Outcome - Type of measurement instrument:
- 1 - Questionnaires
- Instrument:
- AAC - Adult Activities Checklist
BASC - Behavior Assessment Scale/System for Children (versions: BASC-1; BASC-2; BASC-3; BASC‐SRP - BASC-Self‐Report of Personality; BASC-TRS = BASC-Teacher Rating Scale)
BDI - Beck Depression Inventory (versions: mBDI; BDI-Y; BDI-SF)
BPI - Brief Pain Inventory (versions: BPI-sf; mBPI; mBPI-SF; BPI-PR - BPI-Proxy Report; mBPI-Proxy; BPI-DPN - BPI-Diabetic Painful Neuropathy; BPI-20)
EQ-5D - EuroQoL-5 Dimensions (versions: EQ5D-VAS; Patient-Reported Health Score; EQ-5D-Pso - EQ-5D-Psoriasis)
ESS - Epworth Sleepiness Scale
FACIT-F - Functional Assessment of Chronic Illness Therapy- Fatigue Scale
FSS - Fatigue Severity Scale (versions: FSS-7 - 7-item version and FSS-5 - 5-item version)
GD1-PROM - Gaucher disease type 1-specific patient-reported outcome measures
HHS - Harris Hip Score (versions: mHHS)
LPPS - Lansky Play-Performance Scale
MMPI - Minnesota Multiphasic Personality Inventory (versions: MMPI-2; MMPI-Adolescent; MMPI-PTSD)
MOCA - Montreal Cognitive Assessment (versions: MOCA-B - MOCA-Basic; T-MOCA - Telephone MOCA; T-MOCA-Short)
NPSI - Neuropathic Pain Symptom Inventory (versions: NPSI-eye)
PedsQL 4.0 Generic Core Scales - Pediatric Quality of Life Inventory Generic Core Scales (versions: PedsQL 4.0 SF15; PedsQL 4.0 TODDLER; PedsQL 4.0 YOUNG CHILD; PedsQL 4.0 CHILD; PedsQL 4.0 TEENAGER; PedsQL 4.0 SF15 Toddler/Young Child/Child/Teen)
PSQI - Pittsburgh Sleep Quality Index
RBD - REM sleep behavior disorder
SCL-90-R - Symptom Checklist 90-Revised
SF-12 - 12-item Short Form Health Survey [alias: RAND-12] (versions: SF-12v2; VR-12 - Veterans SF-12; SF-12 MCS; SF-12 PCS)
SF-36 - 36-item Short Form Health Survey [alias: RAND-36][alias: MOS SF-36]] (versions: VSF-36 LoA - Visual Version of the SF-36 Limitations of Physical Activities domain; VR-36 - Veterans SF-36) | | also see: database.cosmin.nl
SSRS - Social Support Rating Scale
SWB - Subjective Well-Being scale (versions: BBC-SWB; Belgian SWB)
UMSARS - Unified Multiple System Atrophy Rating Scale
VAS - Visual Analogue Scale (versions: vertical; horizontal; 0-10; 0-100)