Amyloidosis in autoinflammatory syndromes

Abstract

AA amyloidosis may still dramatically impact on the outcome of patients with autoinflammatory diseases, particularly when diagnosis is delayed. Clinicians should maintain a high level of attention to identify early this severe complication. Initial signs mostly reflect kidney damage, with proteinuria, with or without renal failure, being the more frequent presenting feature. If SAA levels are not rapidly normalized, progression toward end-stage kidney disease and dialysis invariably occurs. Over time, multiple organ failure, including heart, autonomic and adrenal insufficiency usually complicates the disease course. Limited tools are still available to predict the occurrence of AA, therefore close monitoring of at risk patients is required to detect promptly the "early red flags" through periodic search for preclinical amyloid deposits and regular assessment of proteinuria and SAA concentration. Effective control of the underlying inflammatory process may halt disease progression and even reverse damage. Anti-cytokine agents are becoming the mainstay of therapy to prevent and treat AA, including patients with FMF that do not respond or do not tolerate adequate colchicine dosages. Renal transplantation can be considered in selected patients progressing to end-stage kidney disease. Novel treatments are under development, targeting key molecular events in the fibrillogenesis process.