Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Adolescent
Adult
Aged
Anxiety
/ epidemiology
Depression
/ epidemiology
Fatigue
/ epidemiology
Female
Heme
/ biosynthesis
Humans
Longitudinal Studies
Male
Middle Aged
Patient Reported Outcome Measures
Porphyria, Acute Intermittent
/ epidemiology
Quality of Life
Severity of Illness Index
Sleep Wake Disorders
/ epidemiology
Young Adult
PROMIS
acute intermittent porphyria
patient-reported outcomes
quality of life
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
16
07
2019
accepted:
10
10
2019
pubmed:
7
11
2019
medline:
4
2
2021
entrez:
7
11
2019
Statut:
ppublish
Résumé
Acute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that may not have captured important domains. Baseline data from the Porphyrias Consortium's Longitudinal Study were obtained for 259 patients, including detailed disease and medical history data, and the following Patient-Reported Outcomes Measurement Information System (PROMIS) scales: anxiety, depression, pain interference, fatigue, sleep disturbance, physical function, and satisfaction with social roles. Relationships between PROMIS scores and clinical and biochemical AIP features were explored. PROMIS scores were significantly worse than the general population across all domains, except depression. Each domain discriminated well between asymptomatic and symptomatic patients with symptomatic patients having worse scores. Many important clinical variables like symptom frequency were significantly associated with domain scores in univariate analyses, showing responsiveness of the scales, specifically pain interference and fatigue. However, most regression models only explained ~20% of the variability observed in domain scores. Pain interference and fatigue were the most responsive scales in measuring QoL in this AIP cohort. Future studies should assess whether these scales capture longitudinal disease progression and treatment response.
Identifiants
pubmed: 31690837
doi: 10.1038/s41436-019-0683-y
pii: S1098-3600(21)01250-8
pmc: PMC7060090
mid: NIHMS1543808
doi:
Substances chimiques
Heme
42VZT0U6YR
Types de publication
Clinical Trial
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
590-597Subventions
Organisme : NCATS NIH HHS
ID : U2C TR002818
Pays : United States
Organisme : NIDDK NIH HHS
ID : U54 DK083909
Pays : United States
Organisme : NIDDK NIH HHS
ID : U54 DK110858
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001420
Pays : United States
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