Fabry disease in female patients: clinical features, outcomes and indications for enzyme replacement therapy

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To evaluate clinical features and indications for enzyme replacement therapy (ERT) in female patients with Fabry disease (FD) in the Russian population.

Material and methods

In a cohort study, we enrolled 72 females aged from 19 to 70 years (median 38 years) with FD. We measured urinary albumin and serum creatinine and used ECG, echocardiography, MR cardiac and brain imaging to evaluate target organs involvement. The studied outcomes included death from all causes, chronic renal failure requiring dialysis, clinically significant arrhythmias, chronic heart failure and stroke. The indications for ERT were assessed using the Russian guidelines for diagnosis and treatment of FD.


At least one early sign of FD, that is, neuropathic pain, angiokeratoma and/or hypohidrosis, was present in 80.1% of patients. Kidney disease (albuminuria and/or glomerular filtration rate <60 ml/min/1.73 m2) was found in 77.8% of female patients, left ventricular hypertrophy in 50.0%, white matter lesions on MRI in 46.4%. There were no deaths. However, 25.0% of females presented with other outcomes of FD at the age of 34 to 58 years (median 44 years), mostly atrial fibrillation or stroke. 83.3% of patients required ERT according to the Russian guidelines.


Most adult female FD patients presented with kidney, heart and/or brain involvement and required ERT.

Key words

Fabry disease, females, outcomes, enzyme replacement therapy.