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. 2019 Sep 14;50(1):9-19.
doi: 10.1002/jmd2.12052. eCollection 2019 Nov.

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria

Hetanshi Naik  1 , Jessica R Overbey  2 , Robert J Desnick  1 , Karl E Anderson  3 , D Montgomery Bissell  4 , Joseph Bloomer  5 , Herbert L Bonkovsky  6 , John D Phillips  7 , Bruce Wang  4 , Ashwani Singal  5 , Manisha Balwani  1
Affiliations

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria

Hetanshi Naik et al. JIMD Rep. .

Abstract

Background: Erythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that fully capture their impact on quality of life (QoL) are lacking.

Methods: Adult patients with EPP/XLP were given four validated QoL tools: the Patient Reported Outcomes Measurement Information System 57 (PROMIS-57), the Hospital Anxiety and Depression Scale (HADS), the Illness Perception Questionnaire Revised (IPQR), and an EPP-Specific tool. All patients received the PROMIS-57 while the HADS, IPQR, and EPP-Specific tools were introduced at a later date. Associations between responses and clinical phenotypes were explored.

Results: Two hundred and two patients were included; 193 completed PROMIS-57, 104 completed IPQR, 103 completed HADS, and 107 completed the EPP-Specific tool. The IPQR showed that patients strongly believed EPP/XLP had a negative impact on their lives. Mean scores in anxiety and depression domains of both HADS and PROMIS-57 were normal; however, anxiety scores from HADS were borderline/abnormal in 20% of patients. The EPP-Specific tool revealed a decreased QoL in most patients. The PROMIS-57 showed that 21.8% of patients have clinically significant pain interference. Several tool domains correlated with measures of disease severity, most being from the PROMIS-57.

Conclusions: Impaired QoL is an important consequence of EPP/XLP. PROMIS-57 was most sensitive in evaluating impaired QoL in EPP/XLP. Further research is needed to compare the effectiveness of it for assessing response to treatment.

Keywords: PROMIS; erythropoietic proto; porphyria; quality of life.

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Conflict of interest statement

Hetanshi Naik reports consultancies with Alnylam. Jessica R. Overbey, Bruce Wang, Ashwani Singal, and Joseph Bloomer declare no conflict 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. Manisha Balwani reports consultancies Alnylam, Recordati, and Mitsubishi Tanabe, and grant (clinical trial) support from Alnylam and Mitsubishi Tanabe.

Figures

Figure 1
Figure 1
EPP. PROMIS scores and history of anxiety/depression and liver enzyme abnormalities. Box plots of PROMIS scores across seven domains by history of anxiety and/or depression is shown on the top row, and by history of liver enzyme abnormalities is shown on the bottom row. For each domain, a higher PROMIS score represents more of the domain being measured. In each plot, the small circle inside the box indicates the sample mean. The line inside the box is the median or 50th percentile. The bottom line of the box is the 1st quartile or 25th percentile and the top line is the 3rd quartile or 75th percentile. The bottom “whisker” is the minimum observation within the lower fence and the top “whisker” is the maximum observation within the upper fence. Lower fence is computed by Q1‐1.5* (IQR; interquartile range) and upper fence is computed by Q3 + 1.5*(IQR). Circle markers outside of the fences are defined as outliers
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