Prevalence of Fabry disease in Iraq

Abstract

Background: Fabry disease occurs due to mutations in the α-galactosidase A (GLA) gene present in the X-chromosome, which results in α-galactosidase A (α-GAL A) enzyme deficiency, leading to the intracellular accumulation of glycosphingolipids like globotriaosylceramide (Gb3). It involves multiorgan dysfunction, particularly affecting kidneys, heart, and central and peripheral nervous system. We intended to evaluate the prevalence of Fabry disease in various regions of Iraq along with the clinical manifestations. Methods: This cross-sectional multi-center study was conducted in Iraq with 1148 patients with variable presentations from January 2018 to June 2022. The demography, patient medical and family history were recorded. Routine clinical investigations were performed along with some specific assessments. Lysosomal α-GAL A enzyme activity was determined using the dried blood spot test followed by tandem mass spectrometry, where values between 200–2000 pmol/spot*20 h were considered normal. Any patient with α-GAL A activity <100 pmol/spot*20h was sent for genetic testing for confirmation of the diagnosis. Statistical analysis of data involved Pearson’s chi-squared test. Results: In total, 17 patients had Fabry disease, with a 16:1 male:female ratio. The disorder was predominant in the 10–30-year age group. Renal dysfunction was the dominant clinical manifestation (82.3%), followed by peripheral neuropathy (35.3%), angiokeratoma (29.4%), corneal verticillate (23.5%), and left ventricular hypertrophy (17.6%). The prevalence of Fabry disease was highest in north Iraq, followed by middle and south regions. Conclusions: A prompt and timely diagnosis of Fabry disease is the cornerstone for preventing complications, especially renal and cardiac involvement.