Abstract Fabry disease is an inherited disorder of lipid metabolism caused by deficient activity of the lysosomal enzyme α-galactosidase A. Burning peripheral pain with triggered crises of excruciating pain and gastrointestinal dysmotility point to Fabry small fiber neuropathy; angiokeratoma, corneal deposits, and hypohidrosis are other common early manifestations. Progressive dysfunction of the kidneys, heart, and/or brain develops in adulthood. Diagnosis is often delayed which is of great concern, as therapeutic outcomes with enzyme replacement therapy are generally more favorable in early stages of Fabry disease. Results of a survey among 360 rheumatologists and pediatricians clinically managing patients with rheumatologic conditions demonstrate that Fabry manifestations are generally poorly recognized and that awareness of appropriate diagnostic tests is low. To raise awareness about the musculoskeletal aspects of Fabry disease among rheumatologists, the International Musculoskeletal Working Group on Lysosomal Storage Disorders has reviewed the current knowledge. We propose a diagnostic algorithm with burning pain in hands and feet and triggered attacks of excruciating pain as keystones. Evidence of autonomic nerve dysfunction and simple temperature sensitivity testing can provide important diagnostic clues. Multi-systemic involvement should be explored by taking a detailed medical history, including family history, and performing a thorough physical examination and appropriate laboratory workup.

Awareness of Fabry disease among rheumatologists--current status and perspectives / Cimaz R; Guillaume S; Hilz MJ; Horneff G; Manger B; Thorne JC; Møller AT; Wulffraat NM; Roth J. - In: CLINICAL RHEUMATOLOGY. - ISSN 0770-3198. - STAMPA. - 30(4):(2011), pp. 467-475. [10.1007/s10067-010-1445-z]

Awareness of Fabry disease among rheumatologists--current status and perspectives

CIMAZ, ROLANDO;
2011

Abstract

Abstract Fabry disease is an inherited disorder of lipid metabolism caused by deficient activity of the lysosomal enzyme α-galactosidase A. Burning peripheral pain with triggered crises of excruciating pain and gastrointestinal dysmotility point to Fabry small fiber neuropathy; angiokeratoma, corneal deposits, and hypohidrosis are other common early manifestations. Progressive dysfunction of the kidneys, heart, and/or brain develops in adulthood. Diagnosis is often delayed which is of great concern, as therapeutic outcomes with enzyme replacement therapy are generally more favorable in early stages of Fabry disease. Results of a survey among 360 rheumatologists and pediatricians clinically managing patients with rheumatologic conditions demonstrate that Fabry manifestations are generally poorly recognized and that awareness of appropriate diagnostic tests is low. To raise awareness about the musculoskeletal aspects of Fabry disease among rheumatologists, the International Musculoskeletal Working Group on Lysosomal Storage Disorders has reviewed the current knowledge. We propose a diagnostic algorithm with burning pain in hands and feet and triggered attacks of excruciating pain as keystones. Evidence of autonomic nerve dysfunction and simple temperature sensitivity testing can provide important diagnostic clues. Multi-systemic involvement should be explored by taking a detailed medical history, including family history, and performing a thorough physical examination and appropriate laboratory workup.
2011
30(4)
467
475
Cimaz R; Guillaume S; Hilz MJ; Horneff G; Manger B; Thorne JC; Møller AT; Wulffraat NM; Roth J
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/649564
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