Multicenter screening of childhood Fabry disease in Shandong Province, China

Abstract Objective Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. This study aimed to promote the early detection, diagnosis, and treatment of Fabry disease among children in Shandong Province through multicenter high-risk and family screening. Methods From August 2022 to August 2024, children at high risk of Fabry disease who visited 28 hospitals in Shandong Province were screened. Family screening was also conducted for family members of children confirmed with the disease. Results The study enrolled 920 participants, including 868 high-risk patients (489 males and 379 females), among whom FD was confirmed in 14, yielding a positive detection rate of 1.61% (14/868). Family screening identified 52 individuals, among whom 24 were confirmed to have FD (16 adults and 8 children), resulting in a positive detection rate of 46.15% (24/52). Among the portrait features of high-risk screening, intermittent severe pain or abnormal sensation in the extremities accounted for 28.0%, chronic kidney disease and joint pain of unknown cause accounted for 21.43% and 17.17%, respectively, and hypertrophic cardiomyopathy/heart failure/arrhythmia and stroke of unknown cause accounted for only 0.92% and 0.58%, respectively. Conclusion Compared with previous high-risk screening for children, this screening strategy included joint pain in the high-risk portrait and adopted a broader screening approach. High-risk screening combined with family screening can effectively identify patients with Fabry disease and improve screening efficiency.