title: Osteoimmunology in mucopolysaccharidoses type I, II, VI and VII. Immunological regulation of the osteoarticular system in the course of metabolic inflammation.
abstract: BACKGROUND
  Mucopolysaccharidoses (MPSs) are rare genetic diseases caused by a deficient activity of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. These metabolic blocks lead to the accumulation of GAGs in various organs and tissues, resulting in a multisystemic clinical picture. The pathological GAG accumulation begins a cascade of interrelated responses: metabolic, inflammatory and immunological with systemic effects. Metabolic inflammation, secondary to GAG storage, is a significant cause of osteoarticular symptoms in MPS disorders.
  
  
  OBJECTIVE
  The aim of this review is to present recent progress in the understanding of the role of inflammatory and immune processes in the pathophysiology of osteoarticular symptoms in MPS disorders and potential therapeutic interventions based on published reports in MPS patients and studies in animal models.
  
  
  CONCLUSIONS
  The immune and skeletal systems have a number of shared regulatory molecules and many relationships between bone disorders and aberrant immune responses in MPS can be explained by osteoimmunology. The treatment options currently available are not sufficiently effective in the prevention, inhibition and treatment of osteoarticular symptoms in MPS disease. A lot can be learnt from interactions between skeletal and immune systems in autoimmune diseases such as rheumatoid arthritis (RA) and similarities between RA and MPS point to the possibility of using the experience with RA in the treatment of MPS in the future. The use of different anti-inflammatory drugs requires further study, but it seems to be an important direction for new therapeutic options for MPS patients.
authors: Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, Lublin, Poland. Electronic address: viola.winiarska@gmail.com.
authors: V
authors: V
authors: Opoka-Winiarska
authors: A
authors: A
authors: Jurecka
authors: A
authors: A
authors: Emeryk
authors: A
authors: A
authors: Tylki-Szymańska
mesh_terms: D001847:Bone Diseases / Q000209:etiology / Q000276:immunology* / Q000378:metabolism; D002358:Cartilage, Articular / Q000276:immunology / Q000378:metabolism; D004413:Dysostoses / Q000209:etiology / Q000276:immunology / Q000378:metabolism; D006025:Glycosaminoglycans / Q000276:immunology / Q000378:metabolism; D006801:Humans; D007592:Joint Diseases / Q000209:etiology / Q000276:immunology* / Q000378:metabolism; D009083:Mucopolysaccharidoses / Q000150:complications / Q000276:immunology* / Q000378:metabolism; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000276:immunology / Q000378:metabolism; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000276:immunology / Q000378:metabolism; D009087:Mucopolysaccharidosis VI / Q000150:complications / Q000276:immunology / Q000378:metabolism; D016538:Mucopolysaccharidosis VII / Q000150:complications / Q000276:immunology / Q000378:metabolism; D013585:Synovitis / Q000209:etiology / Q000276:immunology / Q000378:metabolism
chemical_list: D006025:Glycosaminoglycans
keywords: Dysostosis multiplex; Metabolic inflammation; Mucopolysaccharidosis; Osteoimmunology; anti-TNF