Periodic Fever Syndrome
A group of autoinflammatory disorders characterised by recurrent episodes of fever and systemic inflammation in the absence of infection or autoimmune aetiology, occurring commonly in children.
Full Definition
Periodic fever syndromes are a clinically and genetically heterogeneous group of monogenic autoinflammatory diseases in which innate immune pathways are dysregulated, producing self-limited but recurrent febrile episodes. Major entities include familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD/HIDS), and cryopyrin-associated periodic syndromes (CAPS). Unlike autoimmune diseases, periodic fever syndromes are not driven by antigen-specific adaptive immune responses and are typically seronegative for autoantibodies. Editors must distinguish between the umbrella term 'periodic fever syndrome' and specific named entities, and should not use 'autoinflammatory' and 'autoimmune' interchangeably. The PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis, and adenitis) is the most common periodic fever syndrome in children and does not yet have a confirmed monogenic basis.
Usage
Usage note: Use 'periodic fever syndrome' as the umbrella term and name specific entities (e.g., FMF, TRAPS) when the diagnosis is established. Never use 'autoinflammatory' and 'autoimmune' interchangeably.
In Context
- "The paediatric rheumatologist documented a provisional diagnosis of periodic fever syndrome pending genetic panel results." — Outpatient clinic letter
- "Editors reviewing manuscripts on periodic fever syndrome should note that 'autoinflammatory' and 'autoimmune' are not interchangeable and must not be used synonymously." — Editorial style guidance