title: A reappraisal of Gaucher disease-diagnosis and disease management algorithms.
abstract: Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of Type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and nonspecific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease.
authors.affiliation: Department of Pediatrics and Medicine, Yale University, New Haven, Connecticut 06562, USA. pramod.mistry@yale.edu
authors.forename: Pramod K
authors.initials: PK
authors.lastname: Mistry
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
authors.forename: Elena
authors.initials: E
authors.lastname: Lukina
authors.forename: Hayri
authors.initials: H
authors.lastname: Ozsan
authors.forename: Sara
authors.initials: S
authors.lastname: Mach Pascual
authors.forename: Hanna
authors.initials: H
authors.lastname: Rosenbaum
authors.forename: Maria
authors.initials: M
authors.lastname: Helena Solano
authors.forename: Zachary
authors.initials: Z
authors.lastname: Spigelman
authors.forename: Jesús
authors.initials: J
authors.lastname: Villarrubia
authors.forename: Nora Patricia
authors.initials: NP
authors.lastname: Watman
authors.forename: Gero
authors.initials: G
authors.lastname: Massenkeil
mesh_terms: D000465:Algorithms; D019468:Disease Management; D005776:Gaucher Disease / Q000175:diagnosis* / Q000628:therapy*; D006801:Humans