[Clinical features and quality of life in patients with Fabry disease]

To explore the clinical characteristics of patients with Fabry disease (FD) and the potential influencing factors, as well as to analyze the main factors affecting the quality of life (QOL) of FD patients. The clinical data of 21 adult FD patients who were hospitalized and treated at the University of Hong Kong-Shenzhen Hospital from January 2022 to December 2023 were retrospectively analyzed, including questionnaire data from 17 of these patients. The total score of the Short Form 36 Health Survey (SF-36) was used to determine the QOL. The patient's average age was (42±9) years, including 13 males (61.9%). All patients belonged to 17 families and had a total of 14 gene mutation types. The c.640-801G>A mutation was the most common type, found in 4 patients (19.0%), with cardiac damage as the primary manifestation. The c.901C>T mutation led to lesions in the heart, brain, and kidneys, and early onset and severe phenotypes were detected in female patients. Male patients had lower total SF-36 scores than females (P<0.05). Patients with proteinuria, stroke, hypohidrosis/anhidrosis, and cardiac insufficiency had lower total SF-36 scores compared with those without these symptoms (all P<0.05). The current study indicates that the clinical phenotypes of patients with FD are influenced by a combination of gender, genotype, and non-genetic factors, and gender and clinical symptoms serve as the primary factors affecting patient's QOL.