Updated: May 31
One of my favorite things about rheumatology is the role of Medical detective we have. In many of other specialties, conditions are diagnosed with blood work, imaging or biopsies, and the role of the physician is to help with recovery. While as rheumatologist we also use these tests, there are some medical mysteries that we can only solve with the specific clinical skills we acquire through our residency and fellowship trainings. Diagnosing Adult onset Still Disease (AOSD) is one of the examples where clinical skills cannot be replaced by tests. Let's talk about AOSD.
What Is Adult Onset Still’s Disease and how is it diagnosed?
Adult Onset Still’s Disease (AOSD) is an inflammatory disorder that affects the entire body. It typically presents with intermittent high fevers, joint pain and swelling, as well as a faint and intermittent rash. Other symptoms may include weakness and fatigue, sore throat, abdominal pain, enlarged lymph nodes and more.
Of all the diagnosis in rheumatology, AOSD seems to be one of the most challenging. Indeed, its symptoms are similar to infections or other illnesses such as rheumatoid arthritis or lupus. In my own experience, most patients go to the Emergency rooms at least several times before they are referred for rheumatologic evaluations. Even after that, the diagnosis can take some time as the symptoms are intermittent. Given that it may take months to be seen in insurance based practices, some patients may have no more symptoms at the time of the evaluation. Keeping track of the symptoms and the date and time of each symptoms is very useful for this particular diagnosis as there are no specific tests available for AOSD yet. Finally, the diagnosis usually requires ruling out other diseases first before making a final determination of AOSD based on clinical findings.
Why should patients with AOSD be followed closely by their rheumatologist?
While I am a very optimistic rheumatologist, there is one complication that really keeps me on my toes in my specialty. This complication, which can be seen in patients with AOSD, is called Macrophagic Activation Syndrome (MAS) and can lead to organ failure if not recognized in a timely manner. Symptoms include fever, abdominal pain, rash, low platelet count, liver dysfunction, and neurological symptoms. Fortunately, it is rare, and we have much better treatments than 25 years ago when I saw my first patient with it back in France (our patient made it, but she really scared us then). The role of the rheumatologist is to diagnose this potential complication as early as possible and help treat it as fast as possible to prevent any complications.
How do we treat AOSD:
Each patient is unique and may present differently. The principles of treatment in AOSD require a combination of medications and lifestyle changes depending on the severity of the symptoms. Some patients may never need more than Nonsteroidal anti-inflammatory drugs (NSAIDs). Some other will require some immunosuppressive therapies or biologic targeted therapies to help their body regain balance in their immune system and decrease the inflammation caused by AOSD. We are fortunate to have more than just corticosteroids nowadays! For some patients, physical therapy will help with regaining some joint function if the diagnosis was not made early on and the pain led to immobilization.
I am going to be very direct. If you think you may have AOSD, I would love to work with you. This is one of the conditions that made me chose to become a rheumatologist. I have diagnosed or rectified the diagnosis of many patients with AOSD and allowed them to gain their life back. All patients with rheumatologic disorders need a good rheumatologist and someone they have access to. The ones with AOSD need that access more so than any other patients because they may have periods that can go from months to years without symptoms. Being able to call your rheumatologist when your first symptoms recur is exactly why I created the first direct care rheumatology practice in Colorado.
If you want to know more, please email us at info@unabridgedMD.com. We are here for you!
Isabelle Amigues, MD, MS, RhMSUS
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