She had headaches for many years. She visited multiple doctors, including her primary care physician, a neurologist, a pain clinic, and even a headache specialist, but she was unable to find an effective treatment. Over time she developed additional symptoms, including unexplained rashes and abdominal pain. When a close family member was diagnosed with an autoinflammatory disease, she was referred to my clinic to see if she, too, had one of these rare illnesses. Continue reading Your headaches…are they autoinflammatory?
Autoinflammatory diseases are diverse: they are caused by different genes, present at various stages in life, and cause a variety of symptoms. Even in patients with the same disease, such as familial Mediterranean fever (FMF), attacks may differ widely; some can have severe abdominal pain while others develop headaches. As a result, measuring disease activity–how active the disease is and how severely the patient is affected–has been quite difficult.
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)