• Wu Yanfang, He Juanjuan, Zhang Shengli, Yin Lei, and Gao Fei.
• Shengli Clinical Medical College of Fujian Medical University, Department of Rheumatology and Immunology of Fujian Provincial Hospital, Fuzhou, Fujian, China.
• Medicine (Baltimore). 2023 Nov 3; 102 (44): e34630e34630.

RationaleThe clinical manifestations of Fabry disease affect the nerves, kidneys, heart, skin, gastrointestinal tract and eyes. Our aim is to familiarize people with the FD diagnostic process by reporting this case.Patient ConcernsA 79-year-old-male patient presented with muscle pain and weakness in the extremities, also with an increasing erythrocyte sedimentation rate and C-reactive protein. Further examinations revealed that multiple organ involvement, such as rash, myocardial hypertrophy, peripheral neuropathy.DiagnosesCardiac MR demonstrated hypertrophic cardiomyopathy, myocardial fibrosis and low myocardial T1 value. The patient was eventually diagnosed with Fabry disease through proteomics and genetic testing.InterventionsThe treatment is enzyme replacement therapy (ERT). But this patient could not afford ERT and was given only general symptomatic treatment, pregabalin, and a gradual reduction in glucocorticoid.OutcomesThe patient's symptoms of joint pain and muscle weakness reduced significantly, and ESR and CRP had decreased to normal.LessonsFD is a rare disease and difficult to diagnose, but rare does not mean invisible. FD may present with signs and symptoms of rheumatic diseases. Rheumatologists should be aware and concerned about this disease.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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