Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease

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  • dc.contributor.author Andrade-Campos, Marcio
  • dc.contributor.author López de Frutos, Laura
  • dc.contributor.author Cebolla, Jorge J.
  • dc.contributor.author Serrano-Gonzalo, Irene
  • dc.contributor.author Medrano-Engay, Blanca
  • dc.contributor.author Roca-Espiau, Mercedes
  • dc.contributor.author Gómez-Barrera, Beatriz
  • dc.contributor.author Pérez-Heredia, Jorge
  • dc.contributor.author Iniguez, David
  • dc.contributor.author Giraldo, Pilar
  • dc.date.accessioned 2022-01-27T07:46:00Z
  • dc.date.available 2022-01-27T07:46:00Z
  • dc.date.issued 2020
  • dc.description.abstract Background: Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at risk of developing bone crisis during therapy and late complications such as cancer or parkinsonism. The Spanish Gaucher Disease Registry has worked since 1993 to compile demographic, clinical, genetic, analytical, imaging and follow-up data from more than 400 patients. The aims of this study were to discover correlations between patients' characteristics at diagnosis and to identify risk features for the development of late complications; for this a machine learning approach involving correlation networks and decision trees analyses was applied. Results: A total of 358 patients, 340 type 1 Gaucher disease and 18 type 3 cases were selected. 18% were splenectomyzed and 39% had advanced bone disease. 81% of cases carried heterozygous genotype. 47% of them were diagnosed before the year 2000. Mean age at diagnosis and therapy were 28 and 31.5 years old (y.o.) respectively. 4% developed monoclonal gammopathy undetermined significance or Parkinson Disease, 6% cancer, and 10% died before this study. Previous splenectomy correlates with the development of skeletal complications and severe bone disease (p = 0.005); serum levels of IgA, delayed age at start therapy (> 9.5 y.o. since diagnosis) also correlates with severe bone disease at diagnosis and with the incidence of bone crisis during therapy. High IgG (> 1750 mg/dL) levels and age over 60 y.o. at diagnosis were found to be related with the development of cancer. When modelling the decision tree, patients with a delayed diagnosis and therapy were the most severe and with higher risk of complications. Conclusions: Our work confirms previous observations, highlights the importance of early diagnosis and therapy and identifies new risk features such as high IgA and IgG levels for long-term complications.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Andrade-Campos MM, de Frutos LL, Cebolla JJ, Serrano-Gonzalo I, Medrano-Engay B, Roca-Espiau M, et al. Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease. Orphanet J Rare Dis. 2020 Sep 22; 15(1): 256. DOI: 10.1186/s13023-020-01520-7
  • dc.identifier.doi http://dx.doi.org/10.1186/s13023-020-01520-7
  • dc.identifier.issn 1750-1172
  • dc.identifier.uri http://hdl.handle.net/10230/52336
  • dc.language.iso eng
  • dc.publisher BioMed Central
  • dc.rights Copyright © The Author(s) 2020. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Bone crisis
  • dc.subject.keyword ERT
  • dc.subject.keyword Gaucher disease
  • dc.subject.keyword Machine learning
  • dc.subject.keyword Neoplasia
  • dc.title Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion