Health-related quality of life in patients with neurofibromatosis 1 in Japan: A questionnaire survey using EQ-5D-5L.
EQ-5D
NF1
neurofibroma
quality of life
severity
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
revised:
11
06
2022
received:
29
04
2022
accepted:
20
06
2022
pubmed:
6
7
2022
medline:
7
12
2022
entrez:
5
7
2022
Statut:
ppublish
Résumé
Neurofibromatosis 1 (NF1) is a genetic disorder characterized by various symptoms including dermatological, neurological, and osseous manifestations. These complications often cause cosmetic or functional disturbances, resulting in a significant impact on quality of life (QOL). However, there are limited data on QOL of individuals with NF1 in Japan. Therefore, we studied health-related QOL in patients with NF1 compared with that in general populations and the association with severity grade using EQ-5D. A cross-sectional study was conducted for 73 adult NF1 patients (26 males and 47 females; mean age, 44.16 years). The EQ-5D-5L values and visual analog scale (VAS) in patients with NF1 were 0.738 ± 0.137 and 69.93 ± 19.14, respectively. Both scores were significantly lower in patients with NF1 than in healthy volunteers (p < 0.0001). The score for anxiety/depression was the highest among the five items of EQ-5D. Although we investigated differences in the index value and VAS between stage 2 or less and stage 3 or higher, there was no difference in the scores between groups related to certification criteria for the public medical expenses subsidy system. EQ-5D-5L is a valuable assessment tool for health-related QOL in patients with NF1, but it might not be sufficient for severity certification of NF1 in Japan. We would need the revision of the current certification based on the patients' demand in the future. Our findings might be useful for assessment of therapeutic effects and appropriate resource allocation in the care of patients with NF1.
Identifiants
pubmed: 35781730
doi: 10.1111/1346-8138.16510
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1228-1232Subventions
Organisme : Health Labour Sciences Research Grant (Y.Y. and S.I.) from the Ministry of Health, Labour and Welfare
Informations de copyright
© 2022 Japanese Dermatological Association.
Références
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 1990;62:187-92.
Yoshida Y. 71 Neurofibromatosis. In: Kelly AP, Taylor SC, editors. Taylor and Kellys dermatology for skin of colors. 2nd ed. New York, NY: McGraw-Hill Press; 2016. p. 499-504.
Yoshida Y, Ehara Y, Koga M, Imafuku S, Yamamoto O. Epidemiological analysis of major complications requiring medical intervention in patients with neurofibromatosis 1. Acta Derm Venereol. 2018;98:753-6.
Walker L, Thompson D, Easton D, Ponder B, Ponder M, Frayling I, et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer. 2006;95:233-8.
Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68:1110-8.
Wolkenstein P, Zeller J, Revus J, Ecosse E, Laplege A. Quality-of-life impairment in neurofibromatosis type 1: a cross-sectional study of 128 cases. Arch Dermatol. 2001;137:1421-5.
Page PZ, Page GP, Ecosse E, Korf BR, Leplege A, Wolkenstein P. Impact of neurofibromatosis 1 on quality of life: a cross-sectional study of 176 American cases. Am J Med Genet A. 2006;140:1893-8.
Wolter PL, Burns KM, Martin S, Baldwin A, Dombi E, Toledo-Tamula MA, et al. Pain interference in youth with neurofibromatosis type 1 and plexiform neurofibromas and relation to disease severity, social-emotional functioning, and quality of life. Am J Med Genet A. 2015;167A:2103-13.
Herdman M, Gudex C, Lloyd A, Janssen MF, Kind P, Parkin D, et al. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011;20:1727-36.
Brooks R. EuroQol: the current state of play. Health Policy. 1996;37:53-72. https://euroqol.org
Shiroiwa T, Noto S, Fukuda T. Japanese population norms of EQ-5D-5L and health utilities index mark 3: Disutility catalog by disease and symptom in community settings. Value Health. 2021;24:1193-202.
Balieva F, Kupfer J, Lien L, Gieler U, Finlay AY, Tomás-Aragonés L, et al. The burden of common skin disease assessed with the EQ5D™: a European multicenter study in 13 countries. Br J Dermatol. 2017;176:1170-8.
Dalgard FJ, Svensson A, Haivorsen JA, Gieler U, Schut C, Tomas-Aragones L, et al. Itch and mental health in dermatological patients across Europe: a cross-sectional study in 13 countries. J Invest Dermatol. 2020;140:568-73.
Koide R, Kikuchi A, Miyajima M, Mishina T, Takahashi Y, Okawa M, et al. Quality assessment using EQ-5D-5L after lung surgery for non-small cell lung cancer (NSCLC) patients. Gen Thorac Cardiovasc Surg. 2019;67:1056-61.
Mugii N, Someya F, Noto S, Hamaguchi Y, Matsushita T, Takehara K. Availability of EuroQol-5-Dimensions-5-Level (EQ-5D-5L) as health-related QOL assessment for Japanese systemic sclerosis patients. Mod Rheumatol. 2020;30:681-6.
Hamoy-Jimenez G, Kim R, Suppiah S, Zadeh G, Bril V, Barnett C. Quality of life in patients with neurofibromatosis type 1 and 2 in Canada. Neurooncol Adv. 2020;2:i141-9.
Neurofibromatosis. Neurofibromatosis. Conference statement. National Institute of Health Consensus Development Conference. Arch Neurol. 1998;45:575-8.
Ehara Y, Yamamoto O, Kosaki K, Yoshida Y. Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification. J Dermatol. 2017;44:1262-7.
Shiroiwa T, Fukuda T, Ikeda S, Igarashi A, Noto S, Saito S, et al. Japanese population norms for preference-based measure: EQ-5D-3L, EQ-5D-5L, and SF-6D. Qual Life Res. 2016;25:707-19.
Kanda Y. Investigation of the freely available easy-to-use software ‘EZR’ for medical statistics. Bone Marrow Transplant. 2013;48:452-8.
Ehara Y, Yamamoto O, Kosaki K, Yoshida Y. Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1. J Dermatol. 2018;45:53-7.
Ehara Y, Koga M, Imafuku S, Yamamoto O, Yoshida Y. Distribution of diffuse plexiform neurofibroma on the body surface in patients with neurofibromatosis 1. J Dermatol. 2020;47:190-2.
Koga M, Yoshida Y, Ehara Y, Imafuku S. Medical costs of surgical intervention for hospitalized patients with neurofibromatosis 1 in Japan. Eur J Dermatol. 2020;30:618-20.
Yang Y, Brazier J, Longworth L. EQ-5D in skin conditions: an assessment of validity and responsiveness. Eur J Health Econ. 2015;16:927-39.
Moller AM, Erntoft S, Vinding GR, Jemec GBE. A systemic literature review to compare quality of life in psoriasis with other chronic diseases using EQ-5D-derived utility values. Patient Relat Outcome Meas. 2015;6:167-77.
Gross AM, Wolters PL, Dombi E, Baldwin A, Whitcomb P, Fisher MJ, et al. Selumetinib in children with inoperable plexiform neurofibromas. N Engl J Med. 2020;382:1430-42.