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Diagnostic odyssey of patients with mitochondrial disease: Results of a survey

OBJECTIVE: To document the complex “diagnostic odyssey” of patients with mitochondrial disease. METHODS: We analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease...

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Autores principales: Grier, Johnston, Hirano, Michio, Karaa, Amel, Shepard, Emma, Thompson, John L.P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873725/
https://www.ncbi.nlm.nih.gov/pubmed/29600276
http://dx.doi.org/10.1212/NXG.0000000000000230
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author Grier, Johnston
Hirano, Michio
Karaa, Amel
Shepard, Emma
Thompson, John L.P.
author_facet Grier, Johnston
Hirano, Michio
Karaa, Amel
Shepard, Emma
Thompson, John L.P.
author_sort Grier, Johnston
collection PubMed
description OBJECTIVE: To document the complex “diagnostic odyssey” of patients with mitochondrial disease. METHODS: We analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease, or their caregivers. RESULTS: Participants saw an average of 8.19 clinicians (SD 8.0, median 5). The first clinician consulted about symptoms was typically a primary care physician (56.7%), although 35.2% of participants initially sought a specialist. Of note, 55.2% of participants received their diagnosis from a neurologist, 18.2% from a clinical geneticist, and 11.8% from a metabolic disease specialist. A majority of the participants (54.6%) received 1 or more nonmitochondrial diagnoses before their final mitochondrial diagnosis. In their pursuit of a diagnosis, 84.8% of participants received blood tests, 71% a muscle biopsy, 60.5% MRI, and 38.6% urine organic acids. In addition, 39.5% of the participants underwent mitochondrial DNA sequencing, 19% sequencing of nuclear gene(s), and 11.4% whole-exome sequencing. CONCLUSIONS: The diagnostic odyssey of patients with mitochondrial disease is complex and burdensome. It features multiple consultations and tests, and, often, conflicting diagnoses. These reflect disease variety, diagnostic uncertainty, and clinician unfamiliarity. The current survey provides an important benchmark. Its replication at appropriate intervals will assist in tracking changes that may accompany increased popularity of exome testing, more rigorous diagnostic criteria, increased patient reported outcome activity, and trials for promising therapies.
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spelling pubmed-58737252018-03-29 Diagnostic odyssey of patients with mitochondrial disease: Results of a survey Grier, Johnston Hirano, Michio Karaa, Amel Shepard, Emma Thompson, John L.P. Neurol Genet Article OBJECTIVE: To document the complex “diagnostic odyssey” of patients with mitochondrial disease. METHODS: We analyzed data from 210 Rare Diseases Clinical Research Network Contact Registry participants who were patients with a biochemical deficiency or self-reported diagnosis of mitochondrial disease, or their caregivers. RESULTS: Participants saw an average of 8.19 clinicians (SD 8.0, median 5). The first clinician consulted about symptoms was typically a primary care physician (56.7%), although 35.2% of participants initially sought a specialist. Of note, 55.2% of participants received their diagnosis from a neurologist, 18.2% from a clinical geneticist, and 11.8% from a metabolic disease specialist. A majority of the participants (54.6%) received 1 or more nonmitochondrial diagnoses before their final mitochondrial diagnosis. In their pursuit of a diagnosis, 84.8% of participants received blood tests, 71% a muscle biopsy, 60.5% MRI, and 38.6% urine organic acids. In addition, 39.5% of the participants underwent mitochondrial DNA sequencing, 19% sequencing of nuclear gene(s), and 11.4% whole-exome sequencing. CONCLUSIONS: The diagnostic odyssey of patients with mitochondrial disease is complex and burdensome. It features multiple consultations and tests, and, often, conflicting diagnoses. These reflect disease variety, diagnostic uncertainty, and clinician unfamiliarity. The current survey provides an important benchmark. Its replication at appropriate intervals will assist in tracking changes that may accompany increased popularity of exome testing, more rigorous diagnostic criteria, increased patient reported outcome activity, and trials for promising therapies. Wolters Kluwer 2018-03-26 /pmc/articles/PMC5873725/ /pubmed/29600276 http://dx.doi.org/10.1212/NXG.0000000000000230 Text en Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Article
Grier, Johnston
Hirano, Michio
Karaa, Amel
Shepard, Emma
Thompson, John L.P.
Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title_full Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title_fullStr Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title_full_unstemmed Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title_short Diagnostic odyssey of patients with mitochondrial disease: Results of a survey
title_sort diagnostic odyssey of patients with mitochondrial disease: results of a survey
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873725/
https://www.ncbi.nlm.nih.gov/pubmed/29600276
http://dx.doi.org/10.1212/NXG.0000000000000230
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