Neuropathic pain (acroparesthesia/burning in hands and feet), heat intolerance, reduced sweating, angiokeratomas, corneal verticillata, gastrointestinal symptoms and fatigue—often misattributed to common conditions.
Progressive proteinuria leading to chronic kidney disease, dialysis and transplantation—a major cause of morbidity and the primary driver of renal end-organ damage in Fabry disease.
Left ventricular hypertrophy, hypertrophic cardiomyopathy, arrhythmias and heart failure develop progressively, with major impacts on survival and quality of life in both males and females.
TIA and stroke—including in young adults without conventional risk factors—as well as sensorineural hearing loss and tinnitus, reflecting the multi-system nature of progressive Gb3 accumulation.
Upon diagnosis, patients need a deep and thorough understanding of the disease and the likelihood of how the disease will progress.
Patients also require support to understand treatment options, as well as availability in their geographical location. In certain cases, awareness of available clinical research trials may be useful.
