Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa

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Abstract

Background

Patients with recessive dystrophic epidermolysis bullosa (RDEB) exhibit blisters and erosions since birth, causing pain, pruritus and various complications. RDEB affects quality of life (QoL) in physical, emotional and social aspects. Furthermore, interminable dressing changes and supportive therapies impose a significant economic burden on the patient's family.

Objective

We assessed the QoL and economic burden in patients with RDEB.

Methods

Sixteen patients with RDEB were surveyed to assess the QoL and economic burden. Patients answered questionnaires consisting of a visual analogue scale (VAS) on pain and pruritus, Skindex-29, Quality of Life in EB questionnaire (QOLEB), and the economic burden due to EB.

Results

Thirteen patients with RDEB completed the questionnaire. Female patients presented higher VAS, QOLEB and total Skindex-29 scores than male patients. Patients with RDEB showed severe levels of pruritus, which was more intolerable than pain. Mean VAS score on pain in RDEB was higher than in oral lichen planus and post-herpetic neuralgia. VAS score on pruritus was similar to those in chronic urticaria, atopic dermatitis, and prurigo nodularis. Compared with other dermatologic conditions, patients with RDEB were profoundly affected in all three scales of skindex-29. Mean "medical cost" in a month was $257.54 (USD) (±169.39) and mean "dressing cost" was $358.41 (USD) (±312.55), which was negatively related to patient age.

Conclusion

RDEB had a profound impact on QoL and economic burden. Compared with other dermatologic diseases, RDEB showed severe symptoms and QoL was seriously impaired. Most patients sustained economic burdens, especially on preparing dressing materials. Younger patients experienced more economic burdens.

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Most cited references 24

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Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Jo-David Fine, Leena Bruckner-Tuderman, Robin A J Eady … (2014)

Several new targeted genes and clinical subtypes have been identified since publication in 2008 of the report of the last international consensus meeting on diagnosis and classification of epidermolysis bullosa (EB). As a correlate, new clinical manifestations have been seen in several subtypes previously described. We sought to arrive at an updated consensus on the classification of EB subtypes, based on newer data, both clinical and molecular. In this latest consensus report, we introduce a new approach to classification ("onion skinning") that takes into account sequentially the major EB type present (based on identification of the level of skin cleavage), phenotypic characteristics (distribution and severity of disease activity; specific extracutaneous features; other), mode of inheritance, targeted protein and its relative expression in skin, gene involved and type(s) of mutation present, and--when possible--specific mutation(s) and their location(s). This classification scheme critically takes into account all published data through June 2013. Further modifications are likely in the future, as more is learned about this group of diseases. The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and molecular features of each EB subtype, and has sufficient flexibility incorporated in its structure to permit further modifications in the future. Copyright © 2014 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

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Visual analogue scale: evaluation of the instrument for the assessment of pruritus.

Adam Reich, Monika Heisig, Ngoc Quan Phan … (2012)

The aim of this study was to evaluate the visual analogue scale (VAS) as a method of pruritus assessment. A total of 310 subjects with pruritic dermatoses (148 Caucasian subjects and 162 Asian subjects) were recruited. The patients assessed pruritus intensity using the horizontal and vertical VAS, numeric rating scale (NRS) and verbal rating scale (VRS). All scales showed very good reproducibility (intraclass coefficient (ICC) > 0.8). No significant differences were found between the horizontal and vertical VAS (5.3 ± 2.9 vs. 5.3 ± 3.0 points, p = 0.34). Using NRS, patients rated their pruritus significantly higher than with VAS (5.7 ± 2.6 points, p 0-< 4 points = mild pruritus, ≥ 4-< 7 points = moderate pruritus, ≥ 7-< 9 points = severe pruritus, and ≥ 9 points = very severe pruritus. In conclusion, the VAS is a valuable method of pruritus measurement.

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Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

A. Mark Osborn, Douglas R. Keene, Martin J. Riddle … (2010)

Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). On the basis of preclinical data showing biochemical correction and prolonged survival in col7 −/− mice, we hypothesized that allogeneic marrow contains stem cells capable of ameliorating the manifestations of recessive dystrophic epidermolysis bullosa in humans. Between October 2007 and August 2009, we treated seven children who had recessive dystrophic epidermolysis bullosa with immunomyeloablative chemotherapy and allogeneic stem-cell transplantation. We assessed C7 expression by means of immunofluorescence staining and used transmission electron microscopy to visualize anchoring fibrils. We measured chimerism by means of competitive polymerase-chain-reaction assay, and documented blister formation and wound healing with the use of digital photography. One patient died of cardiomyopathy before transplantation. Of the remaining six patients, one had severe regimen-related cutaneous toxicity, with all having improved wound healing and a reduction in blister formation between 30 and 130 days after transplantation. We observed increased C7 deposition at the dermal-epidermal junction in five of the six recipients, albeit without normalization of anchoring fibrils. Five recipients were alive 130 to 799 days after transplantation; one died at 183 days as a consequence of graft rejection and infection. The six recipients had substantial proportions of donor cells in the skin, and none had detectable anti-C7 antibodies. Increased C7 deposition and a sustained presence of donor cells were found in the skin of children with recessive dystrophic epidermolysis bullosa after allogeneic bone marrow transplantation. Further studies are needed to assess the long-term risks and benefits of such therapy in patients with this disorder. (Funded by the National Institutes of Health; ClinicalTrials.gov number, NCT00478244.)

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Author and article information

Journal

Journal ID (nlm-ta): Ann Dermatol

Journal ID (iso-abbrev): Ann Dermatol

Journal ID (publisher-id): AD

Title: Annals of Dermatology

Publisher: Korean Dermatological Association; The Korean Society for Investigative Dermatology

ISSN (Print): 1013-9087

ISSN (Electronic): 2005-3894

Publication date (Print): February 2016

Publication date (Electronic): 28 January 2016

Volume: 28

Issue: 1

Pages: 6-14

Affiliations

Department of Dermatology, Gangnam Severance Hospital, Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.

Author notes

Corresponding author: Soo-Chan Kim, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: 82-2-2019-3360, Fax: 82-2-3463-6136, kimsc@ 123456yuhs.ac

Article

DOI: 10.5021/ad.2016.28.1.6

PMC ID: 4737837

PubMed ID: 26848213

SO-VID: 91748f14-8fec-4d1a-9a78-401da6e444c7

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 24 October 2014

Date revision received : 06 March 2015

Date accepted : 27 April 2015

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Quality of Life and Economic Burden in Recessive Dystrophic Epidermolysis Bullosa

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Abstract

Background

Objective

Methods

Results

Conclusion

Related collections

Asian Journal of Quality of Life (AjQoL)

Most cited references 24

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Visual analogue scale: evaluation of the instrument for the assessment of pruritus.

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

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