Autoinflammatory syndromes

Autoinflammatory syndromes are a heterogeneous group of inherited inflammatory disorders characterized by recurrent episodes of fever, inflammation, and systemic symptoms.

The etiopathogenesis of these autoinflammatory syndromes is complex and may involve multiple mechanisms, including chronic low-grade inflammation, activation of the innate immune system, abnormal regulation of inflammation, and excessive production of inflammatory cytokines.

The diagnosis of autoinflammatory syndromes is often based on the presence of characteristic symptoms and the exclusion of other causes of recurrent inflammation. Diagnostic confirmation often involves genetic testing to detect specific mutations associated with each syndrome.

Genetic testing is available for cryopyrin-associated periodic fever syndromes (CAPS), familial Mediterranean fever (FMF), tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD).

Treatment of autoinflammatory syndromes often involves the use of colchicine, corticosteroids, and immunomodulatory medications, such as anakinra and canakinumab, which specifically inhibit inflammation in these disorders. Individualized treatment will depend on the specific type of autoinflammatory syndrome and the severity of the symptoms.