You may be familiar with the concept of autoimmune disorders, but have you heard about autoinflammatory diseases? Though somewhat rare, the latter can develop randomly and cause an excessive amount of inflammation without a defined trigger, meaning that it can be difficult to detect – even by the afflicted person.
With that said, there are certain markers a person can watch out for, both in themselves and in their children. Autoinflammatory diseases often present in a cyclical fashion, meaning that they can show up several times in one day, over several days, or even over a number of weeks and months.
Manifestations include fever, rash (redness or hives) joint pain (such as the knees and wrists), swelling and fatigue. They can also include enlarged lymph nodes; pleuritis (inflammation of the membranes around the lungs and the chest cavity); pericarditis (inflammation of the lining of the heart); polyarticular arthritis; and, in very rare occasions, a complication called Macrophage Activation Syndrome (MAS), characterized by the release of a cytokine storm – an overabundance of certain proteins – that may lead to multiple organ failure or even death.
Adult-onset Still’s Disease (AOSD), which can include recurrent arthritis, rash, and fever; Recurrent Pericarditis (RP); and Schnitzler syndrome (typically seen in middle age, with signs including fever, hives, joint pain, and enlarged spleen and liver) are also classified as autoinflammatory conditions.
In children especially, fever can be a major sign. No parent is likely to run to a rheumatologist if their child has a fever. However, if infection is ruled out or the fever keeps coming back even after antibiotic treatment, and it is accompanied by rash and swollen/tender joints, an autoinflammatory condition such as SJIA (Systemic-onset Juvenile Idiopathic Arthritis) may be the cause.
In childhood, a pediatric rheumatologist is most likely to make a diagnosis of autoinflammatory disease. But even that is not guaranteed; in some cases, the condition may be present from birth but not reveal itself until adolescence or early adulthood.
While detecting the presence of an autoinflammatory disease can obviously be complicated, it is not impossible. Diagnosis can be made through a physical examination, a review of the patient’s family medical history, bloodwork, and genetic testing.
Many autoinflammatory diseases are treatable, though not presently curable. Treatments range from over-the-counter medications like ibuprofen (Motrin, Advil) and naproxen (Aleve) to steroids like prednisone, immunomodulators and, increasingly over the last few years, biologic medications and other targeted treatments that block key players of the inflammatory process.
Again, although relatively rare, an autoinflammatory disease can have a profound effect on a person’s body, from mostly just annoying to life-threatening. Encouragingly, vigorous research is continuing in this field, and progress continues to be made. But if you suspect you or a family member may be suffering from such a condition, get in touch with your physician. The path forward from there could be significant.