Clinical phenotypes of Fabry disease in 219 adult patients

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

Moiseev A.: Sechenov First Moscow State Medical University

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

Mershina E.: Moscow State University

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

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Summary

Aim

To evaluate clinical phenotypes of Fabry disease (FD) in the Russian population.

Material and methods

All adult consecutive FD patients were enrolled in our study. Clinical phenotypes, that is, cardiac (hypertrophic cardiomyopathy), cerebral (stroke) and renal (daily albuminuria >2 g and/or 3b-5 stage chronic kidney disease), were defined according to the first organ disease. Patients with only early signs and symptoms (neuropathic pain, angiokeratoma and/or cornea verticillata) and subclinical target organs involvement comprised the control group.

Results

Severe heart, brain or kidney disease was detected in 94 (42.3%) of 219 patients with FD. Renal phenotype manifested mostly by low estimated glomerular filtration rate (<45 ml/min/1.73 m2) was the most common (n=57; 27.0%), whereas cerebral (n=21; 9.6%) and cardiac (n=16; 7.3%) phenotypes occurred more rarely. Patients with renal phenotype were predominantly males (91.2%) of young age (median 43 years), whereas most patients with cardiac phenorype were elderly (median age 61 years) females (68.7%). Most patients with any phenotype of FD presented with early symptoms from childhood or adolescence.

Conclusion

Our findings confirm the important role of nephrologist in the identifying the undiagnosed FD in adult patients.

Key words

Fabry disease, clinical phenotypes, kidney, brain, heart, diagnosis