Screening for the Frequency of Fabry Disease in Patients Followed Up in the Nephrology Outpatient Clinic

Background: The goal of this study was to determine the prevalence of Fabry disease in the nephrology outpatient clinic population, whose diagnosis is frequently delayed despite the availability of enzyme replacement therapy today. Additionally, it was aimed at identifying patient groups that should be evaluated in terms of Fabry disease diagnosis based on symptoms, making an early diagnosis in some patients through family screening, and starting early treatment in these patients.

Methods: The study, which enrolled 950 patients, followed in our outpatient clinic. Questionnaires were used to assess the patients. According to the results of the questionnaire, blood samples were taken from those with the possibility of Fabry disease, and the disease was screened by examining Fabry gene mutations in female patients and alpha-galactosidase A levels in male patients.

Results: A female patient with Fabry disease was not included in the study. During the study only one female patient was found to have a genetic mutation. The diagnostic phase of the patient, who had a genetic variant considered as a polymorphism by some authors, could not be completed because the diagnosis of amyloidosis-myeloma was made and the patient died without further examination.

Conclusion: Although individuals with the possibility of Fabry disease were selected by a questionnaire study in a specific patient population, the frequency of the disease was found to be consistent with the literature.

Cite this article as: Saray S, Çeltik A, Atay G, Aşçı G, Seziş Demirci M, Yılmaz M. Screening for the frequency of Fabry disease in patients followed up in the nephrology outpatient clinic. Turk J Nephrol. 2024;33(2):194-198.