The Basics: Autoinflammatory Diseases

Autoinflammatory diseases (also called hereditary periodic fever syndromes, or autoinflammatory syndromes) are a relatively new category of illnesses caused by disorders of one arm of the immune system. Many of these diseases are characterized by recurrent fevers, rash, chest and abdominal pain, and evidence of systemic inflammation on blood tests; these manifestations often mimic infectious or other illnesses, and it may take several years for the diagnosis to be made.

Most autoinflammatory diseases are genetic (inherited), start in childhood, and persist throughout adult life. These diseases are often present in several members of a family.  Other autoinflammatory diseases appear to be acquired, perhaps due to the interplay of genetic and environmental factors, and can present at any time during childhood or adulthood.

The list of autoinflammatory diseases continues to grow every month.  Here is a list of the autoinflammatory diseases as they stand so far:

  • Familial Mediterranean Fever (FMF)
  • TNF receptor associated periodic syndrome (TRAPS)
  • Hyperimmunoglobulin-D syndrome (Hyper-IgD syndrome, HIDS, also known as mevalonate kinase deficiency, MVK)
  • Cryopyrin-associated periodic syndromes (CAPS):
    • Familial cold autoinflammatory syndrome (FCAS, also known as familial cold urticaria)
    • Muckle-Wells syndrome
    • Neonatal onset multisystem inflammatory disease (NOMID, also known as CINCA)
  • Deficiency of the interleukin-1-receptor antagonist (DIRA)
  • Deficiency of the interleukin-36-receptor antagonist (DITRA)
  • Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA)
  • Blau syndrome
  • Pyogenic sterile arthritis, Pyoderma gangrenosum, Acne (PAPA)
  • Synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome (SAPHO)
  • Adult-onset Still’s disease (AOSD)
  • Macrophage activation syndrome (MAS)
  • Schnitzler’s syndrome
  • Chronic recurrent multifocal osteomyelitis (CRMO, also known as chronic non bacterial osteomyelitis (CNO))
  • Behcet’s disease
  • STING-associated vasculopathy with onset in infancy (SAVI)
  • NOD2-associated autoinflammatory disease (NAID)

What’s the difference between autoinflammatory and autoimmune diseases?  Read this!

5 thoughts on “The Basics: Autoinflammatory Diseases”

  1. Very helpful. Have been trying to get help for symptoms for years and been told that all tests were normal and I have to live with the pain and aches and fatigue.

  2. What type of doctor do I see to be tested for Autoinflammatory Diseases. Due to a recent URI I was given a script for prednesone. Taking it helped my lungs and the inflammation on the soles of my feet from acquired keratoderma climactericum. Struggling with it for last 3 years. I’ve also had trouble with hip and shoulder inflammation.

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Uncovering the mysteries of autoinflammatory diseases and other rheumatic illnesses.