Autoinflammatory Syndromes

• Many rheumatic and musculoskeletal diseases form a continuum between classical autoimmune and autoinflammatory conditions.
• Autoinflammatory syndromes are rare, with a spectrum of features, characterised by fever and other features such as rash, joint pain or arthritis, abdominal pain, mouth ulcers, red eyes and neurological involvement. 
  • There can be overlapping clinical features between various disorders and even heterogeneity among patients even with the same genetic disorder, making diagnosis often challenging. 
  • The differential must include infection and malignancy and can include extensive tests over a period of time. Genetic testing is available for some conditions.
• Autoinflammatory syndromes are a spectrum of conditions and with advances in understanding of the genetics and pathways of inflammation, more treatment options are becoming available.  
• Classically autoimmune diseases are associated with the activation of adaptive immune response, while autoinflammatory are associated with the activation of innate immunity.
• Innate immunity delivers non--specific cellular and humoral immune responses and confers the first defensive responses against pathogens.
• Adaptive immunity is pathogen-?specific and driven by T-lymphocytes and B-lymphocytes. Systemic lupus erythematosus is the prototype of systemic autoimmunity.
• Systemic autoinflammatory diseases comprise an expanding group of diseases, including monogenic diseases caused by inborn errors (also known as periodic fever syndromes) and polygenic diseases such as Periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, Systemic Juvenile idiopathic arthritis and Adult onset Still disease, Schnitzler syndrome, idiopathic recurrent autoimmune pericarditis, or Chronic non-bacterial osteomyelitis - also known as CRMO. 
• A review of autoinflammation and autoimmunity across rheumatic and musculoskeletal diseases is available. 

Resources

Autoinflammatory Alliance: https://www.nomidalliance.com/compchart.php - is useful to demonstrate the overlap between the spectrum of disease currently identified. It is likely that more will be identified. 

FMF (Familial Mediterranean Fever) & AID (AutoImmuneDiseases) Global Association: https://www.fmfandaid.org/disease

PRINTO (Paediatric Rheumatology International Trials Organisation) : https://www.printo.it/pediatric-rheumatology/GB/info/sub/11/Autoinflammatory-Diseases - includes information sheets that can be downloaded for families. 

The Autoinflammatory Alliance provides more information and resources for families http://autoinflammatory.org.