Abu Dhabi doctors successfully diagnose rare disease affecting 1 to 4 in a million worldwide

A medical team in Abu Dhabi has successfully diagnosed and treated Adult-Onset Still's Disease (AOSD), a rare autoimmune condition affecting approximately 1-4 people per million worldwide, after identifying a complex case involving a 34-year-old patient who suffered from persistent high fever for more than two weeks without an apparent cause.

The medical team at Burjeel Hospital, Abu Dhabi, initiated high-dose corticosteroid therapy, the cornerstone treatment for this condition. After the initial high doses, the steroid was tapered carefully over several weeks to suppress the immune reaction while allowing safe recovery.

"Within 24 hours, the fever subsided. Within 48 hours, the patient felt significantly better, with improvement in joint pain and energy levels. Laboratory markers improved in parallel,” Dr Niyas Khalid, Specialist, Internal Medicine, said.

Dr Khalid said that AOSD is extremely difficult to diagnose because of its rarity and resemblance to other infections. "It mimics many life-threatening diseases such as severe infections, autoimmune disorders, liver disease, and even cancer. It’s often under-recognised, particularly in regions where fever is commonly attributed to infectious causes.”

At the hospital, the patient underwent a series of tests to rule out other possibilities. A major challenge was his body not having rashes, a feature often described in textbooks, but frequently absent or difficult to detect in individuals with darker complexion, the doctor added.

"When affected by AOSD, the patient’s immune system becomes overactive and attacks itself, causing widespread inflammation. If not diagnosed and treated at the right time, the disease can progress to severe complications such as organ damage, chronic inflammatory arthritis, liver failure, or a potentially fatal immune storm known as macrophage activation syndrome. In this case, early intervention was life-altering and, potentially, life-saving," Dr Khalid added.

WAM