Monogenic autoinflammatory diseases in adults – a challenge to rheumatologic practice at the onset of the Polish national programme of interleukin 1 inhibitor treatment

Abstract

Monogenic autoinflammatory diseases (AIDs, formerly known as hereditary periodic fever syndromes) cover a spectrum of diseases which lead to chronic or recurrent inflammation caused by activation of the innate immune system. The most common monogenic AID is familial Mediterranean fever. Monogenic autoinflammatory diseases are generally considered intracellular signalling defects. Some stereotypical knowledge may be misleading; e.g. monogenic AIDs are not exclusively found in children, family history is often negative, fever frequently is not a leading manifestation and frequency of attacks in adults is usually variable. Lack of genetic confirmation should not stop anti-inflammatory ex juvantibus therapy. The pattern of tissue injury in AIDs is basically different from that observed in autoimmunity. There is no autoaggression against organ-specific antigens, but substantial damage (amyloidosis, cachexia, premature cardiovascular disease) is secondary to long-lasting inflammation. The Polish national programme of anti-interleukin 1 treatment opens new possibilities for the treatment. However, monogenic AIDs are frequently misdiagnosed and more awareness is needed.

Safety and efficacy of immune checkpoint inhibitors in advanced cancer patients with autoimmune disease: A meta-analysis

“… 7 Autoinflammatory diseases include a diverse group of diseases caused by the over-activation of the innate immune system, typically in the absence of autoantibodies and antigen specific T cells. 8 Autoimmune diseases are mainly caused by the over-activation of adaptive immunity; however, many diseases have characteristics of both autoimmune diseases and autoinflammatory diseases. 9 The pathogenesis of systemic lupus erythematous was initially associated with the dysfunction of adaptive immunity, but current evidence indicates the involvement of innate immune dysfunction, especially in impaired apoptotic cell clearance.…”

Idiopathic recurrent pericarditis – a new orphan autoinflammatory disease? A retrospective analysis of cases of idiopathic recurrent pericarditis and a design of а double-blind, randomized, placebo-controlled study to evaluate the efficacy and safety of RPH-104 treatment in patients with idiopathic recurrent pericarditis

“…Высокая клиническая эффективность блокаторов IL-1 в лечении АВЗ, патогенетически связанных с активацией инфламмасомы, привела к формированию представлений об интерлейкин-1 зависимых заболеваниях («IL-1 driven diseases») [14]. В частности, одним из авторов подобной концепции предлагается диагностическое ex juvantibus использование короткодействующих блокаторов IL-1 (анакинра) в качестве финального этапа верификации диагноза в сложных случаях [15].…”