Fabry disease as a trigger of immune-mediated glomerular disease: Clinical hypotheses and literature review

Fabry disease (FD) is an X-linked genetic disorder characterized by alpha-galactosidase deficiency, leading to the accumulation of globotriaosylceramide. This accumulation causes multi-organ dysfunction, with renal involvement being particularly significant. Recently, the immunological relationship of this disease has been investigated, including the inactivation of enzyme therapies by antibodies and systemic inflammation. We present the case of a 15-year-old patient with FD and ANCA-associated vasculitis (AAV). A narrative review was conducted by searching PubMed with the terms "Fabry disease" AND "vasculitis" AND "glomerulonephritis," identifying 9 relevant articles. These cases were compared with the current one, emphasizing pathophysiological aspects. 75% of patients had fever, 50% had peripheral edema, and 25% had otorhinolaryngological involvement. Pauci-immune necrosis was found in 75%. Therapeutically, all cases were treated with plasmapheresis, 75% with cyclophosphamide, and only one case required hemodialysis during follow-up. The association of FD with vasculitis is rare, with only five cases, only one with positive ANCA. The role of the immune system in FD, still not fully understood, seems to contribute significantly to pathogenesis and complications. This case highlights the need for further research on the immunological role in FD and its relationship with vasculitis and other autoimmune diseases.