#5630 screening and diagnosis strategy for fabry disease in taiwanese patients with chronic kidney disease

Abstract Background and Aims Fabry disease (FD) is not uncommon in patients with chronic kidney disease (CKD) who are on dialysis or have stroke at a young age, left ventricular hypertrophy (LVH) or hypertrophic obstructive cardiomyopathy (HOCM). However, FD is easily overlooked by physicians due to the heterogeneity of clinical manifestations. Therefore, an expert consensus meeting was held to establish a screening algorithm for FD in patients with CKD. Method The first meeting was held in Taiwan in August 2022. The screening criteria for FD with respect to age, sex, family history, cardiac involvement and signs and symptoms were discussed. The findings of meeting and the consensus opinion of the expert group were summarized. Results The screening algorithm was shown in Figure 1. It is recommended to screen for FD regardless of age. Screening for FD is recommended for CKD patients with family history of FD, stroke at young age (<55 years) or typical signs and symptoms including angiokeratoma, hypohidrosis, neuropathic pain, heat/cold and exercise intolerance, hearing loss and cornea verticillata. If CKD patients have one of the cardiac symptoms including dyspnea, palpitation and chest pain, it is recommended to check the cardiac-related red flags including LVH and HOCM using echocardiogram, short PQ interval, atrioventricular block and prolonged QRS interval using electrocardiogram, and low native T1 and posterolateral late gadolinium enhancement using magnetic resonance imaging. If cardiac-related red flags are present, screening for FD is recommended. Screening can also be performed in patients with CKD who do not have any typical symptoms but have a high suspicion of FD. In males, screening can be performed by measuring α-galactosidase A enzyme activity. If the enzyme activity is reduced or absent, assessment of globotriaosylsphingosine (lyso-Gb3) levels in plasma and genetic analysis are recommended. In female, assessment of lyso-Gb3 levels in plasma and genetic analysis are recommended. Conclusion FD is an underrecognized and not so rare disease. Physicians should maintain a skeptical attitude in clinical practice in order to make diagnosis in time and help patients and their entire families avoid life-threatening diseases at a young age. There are still more issues to be addressed, including whether to inform patients of the screening results, how to interact and communicate with patients, etc.