Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria
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...
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| Format: | Article |
| Language: | English |
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Wiley
2019-11-01
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| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12052 |
| _version_ | 1818483814109806592 |
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| author | Hetanshi Naik Jessica R. Overbey Robert J. Desnick Karl E. Anderson D. Montgomery Bissell Joseph Bloomer Herbert L. Bonkovsky John D. Phillips Bruce Wang Ashwani Singal Manisha Balwani |
| author_facet | Hetanshi Naik Jessica R. Overbey Robert J. Desnick Karl E. Anderson D. Montgomery Bissell Joseph Bloomer Herbert L. Bonkovsky John D. Phillips Bruce Wang Ashwani Singal Manisha Balwani |
| author_sort | Hetanshi Naik |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-10T15:47:04Z |
| format | Article |
| id | doaj.art-8ff7d0c724624c68a6b8a8340f7f3b3d |
| institution | Directory Open Access Journal |
| issn | 2192-8312 |
| language | English |
| last_indexed | 2024-12-10T15:47:04Z |
| publishDate | 2019-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | JIMD Reports |
| spelling | doaj.art-8ff7d0c724624c68a6b8a8340f7f3b3d2022-12-22T01:42:55ZengWileyJIMD Reports2192-83122019-11-0150191910.1002/jmd2.12052Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyriaHetanshi Naik0Jessica R. Overbey1Robert J. Desnick2Karl E. Anderson3D. Montgomery Bissell4Joseph Bloomer5Herbert L. Bonkovsky6John D. Phillips7Bruce Wang8Ashwani Singal9Manisha Balwani10Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New YorkDepartment of Population Health Science and Policy Icahn School of Medicine at Mount Sinai New York New YorkDepartment of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New YorkDepartment of Preventive Medicine and Community Health University of Texas Medical Branch Galveston TexasDepartment of Medicine and Liver Center University of California San Francisco CaliforniaDepartment of Medicine University of Alabama Birmingham AlabamaDepartment of Medicine (Section on Gastroenterology & Hepatology) Wake Forest NC Baptist Medical Center Winston‐Salem North CarolinaDepartment of Internal Medicine University of Utah Salt Lake City UtahDepartment of Medicine and Liver Center University of California San Francisco CaliforniaDepartment of Medicine University of Alabama Birmingham AlabamaDepartment of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New YorkAbstract 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.https://doi.org/10.1002/jmd2.12052erythropoietic protoporphyriaPROMISquality of life |
| spellingShingle | Hetanshi Naik Jessica R. Overbey Robert J. Desnick Karl E. Anderson D. Montgomery Bissell Joseph Bloomer Herbert L. Bonkovsky John D. Phillips Bruce Wang Ashwani Singal Manisha Balwani Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria JIMD Reports erythropoietic proto porphyria PROMIS quality of life |
| title | Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria |
| title_full | Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria |
| title_fullStr | Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria |
| title_full_unstemmed | Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria |
| title_short | Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria |
| title_sort | evaluating quality of life tools in north american patients with erythropoietic protoporphyria and x linked protoporphyria |
| topic | erythropoietic proto porphyria PROMIS quality of life |
| url | https://doi.org/10.1002/jmd2.12052 |
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