title: Mucopolysaccharidoses seen in adults in rheumatology.
abstract: Mucopolysaccharidoses are a group of rare lysosomal storage diseases including a great number of polymorph syndromes, each being related to a particular mutation responsible for a deficiency of glycosaminoglycan degrading enzymes, leading to an accumulation of glycosaminoglycans in tissues. Many of them are diagnosed in children or teenagers and have a severe prognosis because of organ failure, and are consequently usually not seen by the adult rheumatologist. However, some of them have a more progressive presentation, with musculoskeletal symptoms at the forefront and a lifespan that nearly reaches that of the general population. These milder forms are more likely to be diagnosed in adults, in patients who have suffered for years and sometimes even decades with unrecognized mucopolysaccharidosis. Indeed, they can sometimes mimic inflammatory rheumatic disorders, and therefore be misdiagnosed for a long time. Recognition and diagnosis of these attenuated forms can be a real challenge as they lead to moderate and/or nonspecific symptoms such as joint pain or stiffness. Hence, rheumatologists should know about them. Early diagnostic is essential since specific treatment, like enzyme replacement therapy, is now available for some subtypes and might, if given early, slow down the development of tissue damage, which is unfortunately irreversible. This article provides the opportunity to review the main clinical and radiographic features, the diagnostic strategy and the update of management, which should be multidisciplinary and led by an experienced physician in a reference centre. The contribution of the rheumatologist is important to ensure symptom control and prevent complications.
authors.affiliation: UPMC university Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of rheumatology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France. Electronic address: stephane.mitrovic@aphp.fr.
authors.forename: Stéphane
authors.initials: S
authors.lastname: Mitrovic
authors.affiliation: UPMC university Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of rheumatology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Gouze
authors.affiliation: UPMC university Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of rheumatology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
authors.forename: Laure
authors.initials: L
authors.lastname: Gossec
authors.affiliation: Department of rheumatology, Pellegrin hospital, Bordeaux university hospital, 33076 Bordeaux, France.
authors.forename: Thierry
authors.initials: T
authors.lastname: Schaeverbeke
authors.affiliation: UPMC university Paris 06, institut Pierre-Louis d'épidémiologie et de santé publique, GRC-UPMC 08 (EEMOIS), Sorbonne universités, 75005 Paris, France; Department of rheumatology, Pitié-Salpêtrière hospital, AP-HP, 75013 Paris, France.
authors.forename: Bruno
authors.initials: B
authors.lastname: Fautrel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015897:Comorbidity; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006801:Humans; D015994:Incidence; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy*; D011379:Prognosis; D035583:Rare Diseases; D012216:Rheumatic Diseases / Q000175:diagnosis / Q000453:epidemiology* / Q000628:therapy; D012219:Rheumatology / Q000379:methods; D018570:Risk Assessment; D012720:Severity of Illness Index; D055815:Young Adult
keywords: Enzyme replacement therapy; Joint contractures; Lysosomal storage diseases; Mucopolysaccharidoses; Rare diseases; Spondyloepiphyseal dysplasia