Trying to differentiate between the many (and ever-growing in number) autoinflammatory diseases is difficult. They share many clinical features such as fever, abdominal pain, and elevation in inflammatory markers. These diseases are so rare that most physicians, even some rheumatologists, may never see them. Genetic studies are only helpful to diagnose a fraction of these patients–we only know a handful of mutations that cause these syndromes.
This is why it was refreshing to read a new study that appeared in this month’s Annals of Rheumatic Diseases: The phenotype of TRAPS at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. It provides us with clinical clues to help identify patients with TRAPS (tumor necrosis factor-receptor-associated autoinflammatory syndrome). Continue reading What do patients with TRAPS look like?
This is the poster that I presented at the 2014 Annual Meeting of the American College of Rheumatology. It reviews the past, present, and future of research in autoinflammatory diseases.
Doctors are discovering new autoinflammatory diseases almost every month. The latest autoinflammatory disease is called STING-associated vasculopathy with onset in infancy, or SAVI. As the name implies, the disease becomes noticeable shortly after birth: infants develop a rash, nodules, fever, lung abnormalities, and ulcers or gangrene in their fingertips. Blood testing shows elevation in markers of inflammation, as are normally seen in autoinflammatory diseases. Continue reading SAVI, the new autoinflammatory kid on the block
On Tuesday, I challenged readers to figure out the cause of a girl’s jaw swelling and pain. Over 130 people read the story, and seven people submitted their responses on this website. You can read the original case here. Read below for the complete case, in addition to comments about the correct diagnosis. Continue reading Jaw swelling and pain: a biography of CRMO
Autoinflammatory diseases 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)
- Behcet’s disease
- Schnitzler’s syndrome
- Chronic recurrent multifocal osteomyelitis (CRMO, also known as chronic non bacterial osteomyelitis (CNO))
- Deficiency of adenosine deaminase 2 (DADA2)
- STING-associated vasculopathy of infancy (SAVI)