Musculoskeletal manifestations of Fabry disease: A retrospective study.

摘要: Abstract Objectives Fabry disease is a rare X-linked metabolic disorder characterized by deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom pain extremities, whereas at more advanced stage, manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, hearing loss. When not diagnosed treated, causes early death. No studies specifically designed to describe musculoskeletal of are available. Methods We conducted single-center retrospective study patients receiving follow-up referral center. described analyzed differential diagnoses. Results Our included 40 belonging 20 families, including 25 with mean age 44.2 years (range, 20–76 years) 15 40.1 16–61 years). Mean diagnosis was 37.2 7–71 26.9 9–51 males. Specific replacement therapy given 10 (40%) 12 (80%) Musculoskeletal were as follows: past or present extremities (13 males), combined some vasomotor disorders telangiectasia; exercise intolerance (12 males); osteoporotic fractures (2 brothers aged 45 44 years, respectively); osteoporosis (3 females, 57, 63, 75 respectively), which contributed death oldest patient; osteopenia (2 38 47 respectively; 1 male 43 years); Charcot foot lymphedema serious infectious complications (4 older than years), avascular osteonecrosis lower limbs 2 cases; toe amputations cases); bilateral lower-limb amputation (1 case); abnormally slender (5 8 acute gout severe failure); carpal tunnel syndrome female male, both younger Mistaken diagnoses that made an contributing delay identification disease, rheumatic fever growing pains paralysis female), chilblains erythermalgia female). In adulthood, following mistaken made: Sjogren's and/or sicca (6 females), systemic sclerosis male), dysautonomia familial Mediterranean Conclusion usually delayed, due confusion common disorders. may constitute symptoms. Past typical. Osteoporosis develop become severe. Together family history, presence lead correct prompting assays genetic testing females. often responsible for manifestations, most osteoporosis. These inaugural diagnostic wanderings. They require specific treatment strategies.