Differential diagnosis of autoinflammatory diseases

Immune-mediated inflammatory diseases are currently regarded as continuum intergating the complex interplay between the innate (autoinflammation) and the adaptive (autoimmunity) immune system. Autoinflammation is essential for pathogenesis of multiple monogenic autoinflammatory disorders and certain polygenic diseases, such as adult-onset Still’s disease or idiopathic recurrent pericarditis. Autoinflammatory disorder should be suspected in patients with clinical (e.g. fever) and laboratory (elevated ESR and C-reactive protein, neutrophilic leukocytosis) signs and symptoms of inflammation that cannot be explained by the other more common causes, that is, infections, malignancy and autoimmune diseases. Patients with monogenic autoinflammatory diseases, including familial Mediterranean fever or cryopirin-associated periodic syndrome, usually present with recurrent episodes offever accompanied with other symptoms that typically begin in childhood or adolescence. In a proportion of cases, similar manifestations can be detected in other family members. However, patients can also present with adult-onset and/or chronic disease whereas family history can be absent. AAamyloidosis affecting kidneys can be “initial” manifestation leading to a diagnosis of autoinflammatory disease. Genetic tests are essential for diagnosis and differential diagnosis of hereditary autoinflammatory disorders.

Key words

Autoinflammatory disorders, familial Mediterranean fever, cryopirin-associated periodic syndrome, TRAPS, mevalonate kinase deficiency, IL-1 inhibitors.