TY - JOUR
T1 - Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria
AU - Naik, Hetanshi
AU - Overbey, Jessica R.
AU - Montgomery, Guy H.
AU - Winkel, Gary
AU - Balwani, Manisha
AU - Anderson, Karl E.
AU - Bissell, D. Montgomery
AU - Bonkovsky, Herbert L.
AU - Phillips, John D.
AU - Wang, Bruce
AU - McGuire, Brendan
AU - Keel, Siobán
AU - Levy, Cynthia
AU - Erwin, Angelika
AU - Desnick, Robert J.
N1 - Publisher Copyright:
© 2019, American College of Medical Genetics and Genomics.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - 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.
AB - 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.
KW - PROMIS
KW - acute intermittent porphyria
KW - patient-reported outcomes
KW - quality of life
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U2 - 10.1038/s41436-019-0683-y
DO - 10.1038/s41436-019-0683-y
M3 - Article
C2 - 31690837
AN - SCOPUS:85074793153
SN - 1098-3600
VL - 22
SP - 590
EP - 597
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 3
ER -