Autoinflammatory manifestations in adult patients

Autoinflammatory diseases represent a family of immune-mediated conditions characterized by the unchecked activation of the innate immune system. Apart from driving the pathophysyiology of autoinflammatory diseases, dysregulation of innate immunity has been documented to be a part of the pathogenesis of several complex diseases. The beneficial role of targeting hyperinflammation via interleukin 1 is a field of growing clinical interest and can extend beyond the treatment of autoinflammatory diseases. Autoinflammatory diseases represent a family of immune-mediated conditions characterized by the unchecked activation of innate immunity. These conditions share common clinical features such as recurrent fever, inflammatory arthritis, and elevation of acute phase reactants, in the absence of an identified infectious etiology, generally without detectable serum autoantibodies, with variable response to glucocorticoids and in some cases colchicine, which represented the mainstay of treatment until cytokine blockade therapies became available. The first autoinflammatory diseases to be described were monogenic disorders caused by missense mutations in inflammasome components and were recognized predominantly during childhood or early adulthood. However, the progress of genetic analyses and a more detailed immunological phenotyping capacity led to the discovery a wide spectrum of diseases, often becoming manifest or being diagnosed in the adult population. The beneficial role of targeting hyperinflammation via interleukin 1 in complex non-immune-mediated diseases is a field of growing clinical interest. We provide an overview of the autoinflammatory diseases of interest to physicians treating adult patients and to analyze the contribution of hyperinflammation in non-immune-mediated diseases; the result is intended to provide a roadmap to orient scientists and clinicians in this broad area.

Automated summary

Autoinflammatory diseases are immune-mediated conditions characterized by uncontrolled activation of the innate immune system. They share common clinical features and are typically treated with glucocorticoids and colchicine. However, targeting hyperinflammation via interleukin 1 has shown promise in the treatment of these diseases as well as non-immune-mediated diseases.