Screening for Fabry Disease in Patients With Juvenile Systemic Lupus Erythematosus
Ertugrul KIYKIM1, Sezgin ŞAHİN2, Tanyel ZUBARIOĞLU1, Kenan BARUT2, Amra ADROVIC2, Mehmet Şerif CANSEVER3, Ayşe Çiğdem AKTUĞLU ZEYBEK1, Özgür KASAPÇOPUR1
1Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey
2Department of Pediatrics, Division of Rheumatology, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey
3Central Laboratory, Istanbul University Cerrahpasa-Cerrahpasa Medical Faculty, Istanbul, Turkey
Objectives: This study aims to determine the prevalence of Fabry disease (FD) among patients with juvenile systemic lupus erythematosus (SLE).
Patients and methods: This cross-sectional study included 76 juvenile SLE patients (12 males; 64 females; mean age 16±3.3 years; range, 8 to 23.5 years) who were diagnosed according to 1997 update of the 1982 American College of Rheumatology revised criteria for classification of SLE. Since the majority of patients were female, alpha-galactosidase A gene was investigated for mutations resulting in FD. Lysosomal accumulation of globotriaosylsphingosine (lyso-Gb3) was further evaluated in mutation positive subjects by using dried blood spot testing.
Results: Alpha-galactosidase A gene screening did not yield any positive mutation in our 74 subjects. However, a heterozygous p.D313Y mutation was found in two females. These subjects were further investigated for lyso-Gb3 levels in dried blood spot samples and the levels of lyso-Gb3 being normal lead to exclusion of FD in these two patients.
Conclusion: We do not suggest routine screening of FD in patients with juvenile SLE; however, prospective studies with larger sample sizes are needed for further analysis.