Differential Diagnostic Iter of monogenic autoinflammatory diseases

Training hours: 1h:30m

Target audience: rheumatologists, dermatologists, gastroenterologists, pediatricians, internists

Number of participants: 50 max

Training objectives: clinical docuementation, diagnostic and rehabilitative clinical-assistance pathways, care profiles

Event credits: 1.5

Scientific Rational. Monogenic autoinflammatory diseases are a group of rare diseases, early onset, characterized by inflammatory response, secondary to alterations, on genetic basis, of proteins involved in its regulation. In contrast to the most common autoimmune diseases, these conditions recognize a secondary role of adaptive immunity (T and B lymphocytes), as demonstrated by the persistent absence of specific autoantibodies or autoantigen-specific T cells and a lack of association with HLA class II.

In most cases the condition of hyperactivity of the innate immunity of these diseases is secondary to mutation of genes encoding crucial proteins in the regulation of inflammatory response (the so-called monogenic or hereditary autoinflammatory diseases) are characterized by recurrent systemic inflammation with variable frequency and involving the skin, serous membranes, synovial membranes, joints, gastrointestinal tract, and/or central nervous system, with reactive amyloidosis as a potential long-term consequence. 

Although singularly uncommon, all Monogenic autoinflammatory diseases have created an emerging chapter in Internal Medicine: Recent discoveries have modified the knowledge of pathophysiology and have clarified that these multiform inflammatory symptoms can be variously associated with periodic fevers and depict multiple specific conditions that usually begin in childhood, such as familial Mediterranean fever (FMF), periodic syndrome associated with tumor necrosis factor receptor (TRAPS), periodic cryopyrin-associated syndromes (CAPS) and mevalonate kinase deficiency (MKD). However, there are no evidence-based studies to determine in adult patients which potential genotype analysis is the most appropriate for clinical phenotypes suggestive of mAIDs.

This webinar aims to deepen the genetic and clinical suggestions for an ideal diagnostic approach to Monogenic autoinflammatory diseases in adult patients, since their early identification is essential to solicit effective treatment and improve quality of life, and to focus on the latest developments in the diagnostic process for FMF.

• Introduction to the course. (L. Cantarini) – 5 min
• Monogenic autoinflammatory diseases: from diagnosis to treatment . (L. Cantarini) –15 min / Q&A – 5 min
• Algorithms for differential diagnosis of mAIDs. (C. Gaggiano) – 15 min / Q&A – 5 min
• Updating the FMF diagnostic criteria . (D. Rigante) –15 min / Q&A – 5 min
• AIDA registries for autoinflammatory diseases (A.Vitale) 15 min / Q&A – 5 min
• Take home messages. (C. Gaggiano) 10 min