Background: Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that < 20% recognized signs and symptoms of MPS I or could identify appropriate diagnosis tests. These results prompted formation of an international working group of rheumatologists, pediatric rheumatologists, and experts on MPS I to formulate a rheumatology-based diagnostic algorithm. The resulting algorithm applies to all MPS disorders with musculoskeletal manifestations. Bone and joint manifestations are prominent among most patients with MPS disorders. These lifethreatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (laronidase), MPS II (idursulfase), and MPS VI (galsulfase).

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis / Cimaz R; Coppa GV; Koné-Paut I; Link B; Pastores GM; Elorduy MR; Spencer C; Thorne C; Wulffraat N; Manger B. - In: PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL. - ISSN 1546-0096. - STAMPA. - 23:(2009), pp. 7-18. [10.1186/1546-0096-7-18]

Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis.

CIMAZ, ROLANDO;
2009

Abstract

Background: Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that < 20% recognized signs and symptoms of MPS I or could identify appropriate diagnosis tests. These results prompted formation of an international working group of rheumatologists, pediatric rheumatologists, and experts on MPS I to formulate a rheumatology-based diagnostic algorithm. The resulting algorithm applies to all MPS disorders with musculoskeletal manifestations. Bone and joint manifestations are prominent among most patients with MPS disorders. These lifethreatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (laronidase), MPS II (idursulfase), and MPS VI (galsulfase).
2009
23
7
18
Cimaz R; Coppa GV; Koné-Paut I; Link B; Pastores GM; Elorduy MR; Spencer C; Thorne C; Wulffraat N; Manger B
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/390333
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