title: Understanding the natural history of Gaucher disease.
abstract: Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that exhibits diverse manifestations, a broad range of age of onset of symptoms, and a wide clinical spectrum of disease severity, from lethal disease during infancy to first age of onset of symptoms in octogenarians. Before the advent of the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the understanding of the natural history and phenotypic range of Gaucher disease was based on isolated case reports and small case series. Limited data hindered understanding of the full spectrum of the disease leading to some early misconceptions about Gaucher disease, notably, that nonneuronopathic (type 1) disease was a disease of adults only. The global scope of the ICGG Gaucher Registry, with its vast body of longitudinal data, has enabled a real appreciation of both the phenotypic spectrum of Gaucher disease and its natural history. This body of evidence represents the foundation for accurate assessment of the response to specific therapies for Gaucher disease and to the development of standard-of-care to monitor disease activity. Here, we outline the key developments in delineating the natural history of this highly complex disease and role of the ICGG Gaucher Registry in this effort.
authors.affiliation: Department of Internal Medicine Yale University School of Medicine, New Haven, Connecticut, USA.
authors.forename: Pramod K
authors.initials: PK
authors.lastname: Mistry
authors.affiliation: Department of Internal Medicine, Reference Center for Lysosomal Diseases, Beaujon Hospital, Clichy, Assistance Publique-Hôpitaux De Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Belmatoug
authors.affiliation: Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, University of Düesseldorf, Düsseldorf, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: vom Dahl
authors.affiliation: Department of Genetics/UFRGS and INAGEMP, Medical Genetics Service/HCPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D005776:Gaucher Disease / Q000188:drug therapy / Q000473:pathology*; D006801:Humans; D012042:Registries