Fabry disease caused by the () variant: Clinical profile of a serious phenotype.

Background: The detailed clinical phenotype of patients carrying the α-galactosidase gene ()   / () variant in Fabry disease (FD) has not been thoroughly documented in the existing literature.

Methods: This paper offers a meticulous overview of the clinical phenotype and relevant auxiliary examination results of nine confirmed FD patients with the gene variant from two families. Pedigree analysis was conducted on two male patients with the gene variant, followed by biochemical and genetic screening of all high-risk relatives. Subsequently, evaluation of multiple organ systems and comprehensive instrument assessment were performed on heterozygotes of the gene variant.

Results: The study revealed that all patients exhibited varying degrees of cardiac involvement, with two demonstrating left ventricular wall thickness exceeding 15 mm on echocardiography, and the remaining six exceeding 11 mm. Impaired renal function was evident in all six patients with available blood test data, two of whom underwent kidney transplantation. Eight cases reported neuropathic pain, and five experienced varying degrees of stroke or transient ischemic attack (TIA).

Conclusion: This study indicates that the gene variant can induce premature organ damage, particularly affecting the heart, kidneys, and nervous system.