Clinical characteristics of patients with Fabry disease in the Russian population

Introduction. Fabry disease is an X-linked lysosomal storage disorder with multisystem involvement, the clinical manifestations and severity of which differ significantly between males and females. The diversity of early symptoms and target organ damage often leads to delayed diagnosis, while timely diagnosis is essential for early initiation of specific therapy.

Aim: To study the clinical features of Fabry disease in males and females in the Russian population over the period from 2015 to 2026 for early diagnosis of the disease.

Material and Methods. A retrospective cohort study with a comparative analysis of clinical manifestations of Fabry disease in adult males and females was conducted. The cohort study, covering the period from 2015 to 2026, included 259 adult patients with Fabry disease confirmed by molecular genetic testing (150 males and 109 females; median age 45.5 years). To assess target organ damage, daily albuminuria, serum creatinine levels, 24-hour Holter ECG monitoring, echocardiography, cardiac and brain magnetic resonance imaging (MRI) were performed. Clinical manifestations were assessed in the overall cohort and separately in males and females.

Results. The majority of patients had typical early manifestations of Fabry disease from childhood or adolescence, including neuropathic pain in the hands and feet (67.6%), angiokeratomas (33.6%), cornea verticillata (58.3%), hypohidrosis (49.4%), and/or gastrointestinal symptoms (19.3%). The target-organ involvement, that is, kidney, heart, and brain disease, was detected in 80.3%, 61.0%, and 48.3% of patients, respectively. Despite the relatively young age of the examined patients, many presented various disease outcomes, such as dailysis-dependent chronic renal failure (20.1%), stroke (18.1%), including recurrent stroke, and/or severe left ventricular hypertrophy (LVH) (21.6%) accompanied by arrhythmias and/or chronic heart failure. Mortality during follow-up was 12.7%. Male patients had a more severe clinical course of Fabry disease and developed adverse outcomes at younger age.

Conclusion. Fabry disease should be suspected in adults patients with nephropathy or left ventricular hypertrophy of unknown origin and/or stroke at a young age, particularly when these findings are accompanied by typical early manifestations of the disease.

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