From the Guidelines
The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management, and monitoring of the interleukin-1 mediated autoinflammatory diseases is one of the best review articles about autoinflammatory disorders, as it provides a comprehensive overview of the diagnosis, management, and monitoring of these conditions, including cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist 1. This article, published in the Annals of the Rheumatic Diseases in 2022, is a valuable resource for clinicians, as it offers practical guidance on the diagnosis and management of these rare but increasingly recognized disorders. The review covers the pathophysiology, clinical features, and treatment options for various autoinflammatory conditions, including autosomal dominant autoinflammatory diseases caused by gain-of-function mutations in NLRP3, such as familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease/chronic infantile neurological cutaneous and articular (NOMID/CINCA) 1. Some key points from the article include:
- The importance of early diagnosis and treatment of autoinflammatory disorders to improve patient outcomes
- The use of IL-1 inhibitors, such as anakinra and canakinumab, in the management of cryopyrin-associated periodic syndromes (CAPS) and other IL-1 mediated autoinflammatory diseases
- The role of genetic testing and inflammatory markers, such as CRP and SAA, in the diagnosis and monitoring of autoinflammatory disorders
- The need for a multidisciplinary approach to the management of autoinflammatory disorders, involving rheumatologists, immunologists, and other specialists. The article is particularly useful because it provides a balanced approach to the diagnosis and management of autoinflammatory disorders, combining scientific depth with practical clinical guidance, making it a valuable resource for both specialists and general practitioners who encounter these rare but increasingly recognized disorders 1.
From the Research
Autoinflammatory Disorder Review Articles
- The article "Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever" 2 provides a comprehensive overview of autoinflammatory diseases, including familial Mediterranean fever, and discusses the role of genetic and clinical tools in diagnosis and treatment.
- Another review article, "A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin" 3, presents a flowchart to guide physicians in requesting mutation analyses and interpreting findings, and discusses the efficacy of anti-IL-1 treatment in periodic fever diseases.
- The article "Diagnosis and treatment of autoinflammatory diseases in adults: a clinical approach from rheumatologists" 4 focuses on the diagnosis and treatment of autoinflammatory diseases in adults, including familial Mediterranean fever, and discusses the use of biological agents such as canakinumab.
- The review "Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases" 5 provides an update on the main clinical developments in periodic fever syndromes and autoinflammatory diseases, and discusses the role of IL-1β in the pathogenesis of these disorders.
- The article "[Autoinflammatory syndromes/fever syndromes]" 6 provides an overview of hereditary periodic fever syndromes, including familial Mediterranean fever, and discusses the use of therapeutics such as anakinra and TNF-antagonists.
Key Findings
- Autoinflammatory diseases are characterized by recurrent systemic inflammation due to dysfunction of the innate immune system 4.
- Genetic and clinical tools are improving the ability of clinicians to diagnose and treat autoinflammatory diseases 2.
- Anti-IL-1 treatment is effective in periodic fever diseases, including familial Mediterranean fever and cryopyrin-associated periodic syndromes 3, 5.
- Biological agents such as canakinumab are used in the treatment of autoinflammatory diseases in adults 4.