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Clinerion report: Identification of Fabry Patients by Modeling Disease-Specific Phenotypes Using EHR Data at Istanbul Medical Faculty

A Single Center Real-Life Evidence Study in Turkey, with Istanbul University Faculty of Medicine and Sanofi

Fabry disease, which may begin in early childhood with sign of a medical problem and symptoms, and can cause renal, cardiac and cerebrovascular complications and organ failure is a progessive, multisystemic, inherited lysosomal storage disorder (LDH). It is observed in approximately 1 in 6,000 live births.

The disease spectrum is heterogeneous, progressive, and clinical phenotypes are wide. Fabry disease may cause premature death in adulthood. Diagnostic delays of approximately 15 years have been reported. Early symptoms and diagnosis at a potentially reversible stage of the disease are important.  In patients with Fabry disease, life expectancy is reduced by about 15 to 20 years in men and about 6 to 10 years in women.

In this study, it is aimed to detect Fabry patients by using electronic health record (EHR) data in the Hospital of the Faculty of Medicine of Istanbul University.

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