The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.

ABSTRACT: Fabry disease, a lysosomal storage disorder, is a rare inborn error of metabolism caused by deficiency of the enzyme alpha galactosidase A and resulting accumulation of globotriaosylceramide. The symptoms of Fabry disease are heterogeneous including renal failure, cardiac hypertrophy, and stroke and may not be well recognized by non-specialist physicians. Patients with milder, later onset of disease often have a delay in diagnosis.Fabry patients may suffer significant neuropathic pain in the extremities (acroparasthesia) but the degree to which musculoskeletal symptoms contribute to total pain and disability is unknown. Here, we present a questionnaire study focusing on joint manifestations and their impact on daily life of patients with Fabry disease.Seventy-seven patients with Fabry dise

SUBMITTER: Ivleva A 

PROVIDER: S-EPMC6122052 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature