Clinical manifestations and outcomes of Fabry disease in 150 adult patients

Moiseev A.: Sechenov First Moscow State Medical University

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Tao E.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Bulanov N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Mershina E.: Moscow State University

Ismailova D.: Research Institute of Eye Diseases

Nosova N.: Sechenov First Moscow State Medical University

Kuchieva A.: Sechenov First Moscow State Medical University

Sholomova V.: Sechenov First Moscow State Medical University

Novikov P.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Pavlikova E.: Moscow State University

Fomin V.: Vinogradov Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Safarova A.F.: Peoples' Friendship University of Russia (RUDN), Vinogradov City Clinical Hospital, Moscow, Russia

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Summary

Aim

To evaluate clinical manifestations and outcomes of Fabry disease (FD) in adult patients in the Russian population.

Material and methods

In a retrospective cohort study, we recruited consecutive adult patients with established FD and evaluated the following outcomes: end-stage renal disease (ESRD) requiring renal replacement therapy (dialysis or kidney transplantation), clinically significant arrhythmias, chronic heart failure, stroke, and death. All outcomes were studied separately in males and females.

Results

150 adults patients with FD (98 males and 52 females, median age 42.4 years) were enrolled in our study. Diagnosis was suspected clinically only in 40 (26.7%) patients, whereas in the other cases FD was diagnosed by nationwide screening in the Russian hemodialysis units or family screening. Median delay in diagnosis from the first symptoms was 20 years, although most patients (87.3%) had typical manifestations from childhood or adolescence, including neuropathic pain (74.0%), angiokeratoma (39.3%), hypohidrosis (54.0%) and/or gastrointestinal symptoms (28.0%). Unfavorable outcomes occurred in 47.7% of patients. In males, they were more common than in females (58.2% vs. 25.0%; p<0.01). Prognosis mostly depended on kidney disease, as renal replacement therapy was initiated in 29.3% of patients. Fourteen (9.3%) of 150 patients died at the median age of 44.4 years. All deceased patients were males, and 12 of them were treated with renal replacement therapy.

Conclusion

ESRD, clinically significant arrhythmias and/or stroke occurred in half of adults patients with FD and were common both in males and females.

Key words

Fabry disease, outcomes, end-stage renal disease, arrhythmias, stroke