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

Abstract

declare no conflicts of interest Robert J. Desnick reports consultancies from Alnylam Pharmaceuticals, Recordati Rare Diseases, and Mitsubishi Tanabe. Karl E. Anderson reports consultancies from Alnylam and grant (clinical trial) support from Alnylam and Mitsubishi Tanabe. D. Montgomery Bissell reports honoraria from Recordati and grant (clinical trial) support from Alnylam and Mitsubishi Tanabe. Herbert L. Bonkovsky reports consultancies form Alnylam, and Recordati Rare diseases and grant (clinical trial) support from Alnylam and Mitsubishi Tanabe. John D. Phillips reports consultancies from Alnylam, Recordati, and Agios and grant (clinical trial) support from Mitsubishi Tanabe. Sioban Keel reports grant (clinical trial) support from Alnylam. Cynthia Levy reports grant (clinical trial) support from Mitsubishi Tanabe. Manisha Balwani reports consultancies Alnylam, Recordati, and Mitsubishi Tanabe, and grant (clinical trial) support from Alnylam and Mitsubishi Tanabe.

Psychometric Properties of the Patient Reported Outcomes Measurement Information System (PROMIS) Scales in Acute Intermittent Porphyria Patients

“…Many participants (45.1%) reported having recurrent attacks, de ned as four or more attacks per year. The distribution of scores per scale were previously reported and showed a heterogeneous sample 17 .…”

“…Previous QoL and psychosocial assessment studies in AIP patients were all descriptive and have used the Illness Perception Questionnaire 13 , the Hospital Anxiety Depression Scale 14 , the EuroQoL (speci cally the EQ-5D) 15 , and the SF-36 16 but small cohorts limited these studies. The Longitudinal Study of the National Institutes of Health supported Porphyrias Consortium used the Patient Reported Outcomes Measurement Information System (PROMIS®) scales to asses QoL in AIP patients and assessed the sensitivity (amount of change detected by the instrument) of the PROMIS scales in this population 17 .…”

“…[26][27][28][29] Our previous study showed that all domains of the PROMIS-57 (Anxiety, Depression, Pain Interference, Fatigue, Sleep Disturbance, Physical Function, and Satisfaction with Social Roles) were able to discriminate well between asymptomatic and symptomatic patients. The domains that were most sensitive to clinical features in symptomatic patients were pain interference, anxiety, and fatigue 17 . All previous studies have shown that symptomatic AIP patients have signi cantly decreased QoL, an increased incidence of anxiety, impaired physical functioning, and interference with employment [30][31][32] .…”

Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP

“…Psychiatric manifestations, including anxiety and depression, along with insomnia and fatigue significantly reduce quality of life and adversely affect family and social interactions. 17 Safe antidepressants, anxiolytics, and other psychotropic agents may be used judiciously but must be closely monitored. Social service support is often needed because of the significant negative impact of recurrent AIP attacks on functional status and employability.…”

“…Social service support is often needed because of the significant negative impact of recurrent AIP attacks on functional status and employability. 16,17 For patients ≥50 years of age, liver ultrasounds and α-fetoprotein determinations are recommended every 6 months to monitor for hepatocellular carcinoma. 6 Givosiran, a novel, liver-specific small interfering RNA molecule directed against ALAS1 messenger RNA, was approved in 2019 to treat patients with acute hepatic porphyrias and recurrent symptomatic attacks.…”