title: Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments.
abstract: Distinctive facial features, hepatosplenomegaly or cardiomyopathy with or without associated skeletal dysplasia are clinical manifestations that may be suggestive of an underlying lysosomal storage disorder (LSD), However, these features may not be evident in certain subtypes associated primarily with central nervous system involvement. Age at onset can be broad, ranging from infancy to adulthood. Diagnosis may be delayed, as manifestations may be slow to evolve (taking months to years), particularly in those with later (adult-)onset, and in isolated cases (i.e., those without a prior family history). Diagnosis of individual subtypes can be confirmed using a combination of biochemical and molecular assays. In a few LSDs, treatment with hematopoietic stem cell transplantation, enzyme replacement or substrate reduction therapy is available. Symptomatic and palliative measure may enhance quality of life for both treatable and currently untreatable cases. Genetic counseling is important, so patients and their families can be informed of reproductive risks, disease prognosis and therapeutic options. Investigations of underlying disease mechanisms are enhancing knowledge about rare diseases, but also other more common medical conditions, on account of potential convergent disease pathways.
authors.affiliation: National Center for Inherited Metabolic Diseases - Adult Services, Department of Medicine, Mater Misericordiae University Hospital, Eccles Street, Dublin 7, Ireland. Electronic address: gpastores@mater.ie.
authors.forename: Gregory M
authors.initials: GM
authors.lastname: Pastores
authors.affiliation: Department of Haematology, Royal Free London NHS Foundation Trust and University College London, United Kingdom.
authors.forename: Derralynn A
authors.initials: DA
authors.lastname: Hughes
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology; D004413:Dysostoses / Q000209:etiology; D056947:Enzyme Replacement Therapy; D005817:Genetic Counseling; D015316:Genetic Therapy; D018380:Hematopoietic Stem Cell Transplantation; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000150:complications / Q000628:therapy*; D026741:Physical Therapy Modalities; D051437:Renal Insufficiency / Q000209:etiology; D013163:Splenomegaly / Q000209:etiology
keywords: cardiomyopathy; dysostosis multiplex; hepatosplenomegaly; lysosomal storage disorders