Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria

Hetanshi Naik, Jessica R. Overbey, Guy H. Montgomery, Gary Winkel, Manisha Balwani, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Brendan McGuire, Siobán Keel, Cynthia Levy, Angelika Erwin, Robert J. Desnick

Research output: Contribution to journalArticle

Abstract

Purpose: 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. Methods: 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. Results: 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. Conclusion: 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.

Original languageEnglish (US)
JournalGenetics in Medicine
DOIs
StateAccepted/In press - Jan 1 2019

Fingerprint

Acute Intermittent Porphyria
Information Systems
Fatigue
Pain
Quality of Life
Depression
Porphyrias
Heme
Sample Size
Longitudinal Studies
Disease Progression
Sleep
Anxiety
Patient Reported Outcome Measures
Population

Keywords

  • acute intermittent porphyria
  • patient-reported outcomes
  • PROMIS
  • quality of life

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. / Naik, Hetanshi; Overbey, Jessica R.; Montgomery, Guy H.; Winkel, Gary; Balwani, Manisha; Anderson, Karl E.; Bissell, D. Montgomery; Bonkovsky, Herbert L.; Phillips, John D.; Wang, Bruce; McGuire, Brendan; Keel, Siobán; Levy, Cynthia; Erwin, Angelika; Desnick, Robert J.

In: Genetics in Medicine, 01.01.2019.

Research output: Contribution to journalArticle

Naik, H, Overbey, JR, Montgomery, GH, Winkel, G, Balwani, M, Anderson, KE, Bissell, DM, Bonkovsky, HL, Phillips, JD, Wang, B, McGuire, B, Keel, S, Levy, C, Erwin, A & Desnick, RJ 2019, 'Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria', Genetics in Medicine. https://doi.org/10.1038/s41436-019-0683-y
Naik, Hetanshi ; Overbey, Jessica R. ; Montgomery, Guy H. ; Winkel, Gary ; Balwani, Manisha ; Anderson, Karl E. ; Bissell, D. Montgomery ; Bonkovsky, Herbert L. ; Phillips, John D. ; Wang, Bruce ; McGuire, Brendan ; Keel, Siobán ; Levy, Cynthia ; Erwin, Angelika ; Desnick, Robert J. / Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. In: Genetics in Medicine. 2019.
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