Dietary recommendations in Fabry disease: nephrological and multisystem aspects

Fabry disease is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene and deficient α-galactosidase A activity. The subsequent accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) results in progressive multisystem involvement, with renal and cardiovascular manifestations representing major determinants of long-term prognosis. Despite substantial advances in disease-specific treatment, including enzyme replacement therapy and pharmacological chaperone therapy, supportive interventions remain important for controlling modifiable risk factors and disease-associated symptoms.The present review discusses the role of nutritional therapy in Fabry disease, with particular emphasis on Fabry nephropathy, cardiometabolic risk and gastrointestinal manifestations. In patients with chronic kidney disease, dietary management should follow established nephroprotective principles, including avoidance of excessive protein intake, dietary sodium restriction and individualized management of potassium, phosphorus and fluid intake. Current CKD recommendations support a protein intake of approximately 0.8 g/kg/day in adults with CKD stages G3–G5, while high-protein diets should be avoided. Dietary patterns emphasizing minimally processed plant-based foods may provide additional cardiovascular and metabolic benefits; however, evidence for a Fabry-specific effect on disease progression remains limited.Gastrointestinal manifestations are frequent and may substantially impair nutritional status and quality of life. Preliminary clinical evidence suggests that a low-FODMAP approach may improve selected gastrointestinal symptoms in carefully selected patients, although the currently available evidence is insufficient to support its routine use in all patients with Fabry disease. Fluid intake and other nutritional restrictions should likewise be individualized according to kidney function, cardiac status, gastrointestinal manifestations and overall nutritional condition.There is currently no disease-specific diet capable of modifying the underlying lysosomal defect. Nutritional management should therefore be regarded as an individualized component of multidisciplinary care and as an adjunct, rather than an alternative, to disease-specific therapy.