In rheumatology, the diagnosis may be apparent as soon as I shake a patient’s hand or scan the face or extremities for clues. Some physical signs are pathognomonic, that is, specific for only one disease. Osteoarthritis spares the knuckles, but gradually enlarges the middle and distal joints of the fingers. A heliotrope rash—a faint purplish swelling around the eye—is specific for the immunologic muscle disease, dermatomyositis. The thickened skin of scleroderma, the facial rash of lupus, the destructive saddle nose deformity of granulomatosis with polyangiitis (GPA), are rare but specific signs of their respective diseases.
If at first the diagnosis eludes me, a careful review of the history and a good physical exam with a dash of focused lab usually makes the obscure apparent.
But when I still don’t know the diagnosis at my follow-up visit, sometimes I don’t know what’s wrong for months, even years. Sure, doctors take pride in their successes, but the mystery cases, the patients who remain unwell and undiagnosed even after a second opinion, are not uncommon. Or, as Ron Anderson, MD, a prominent Boston rheumatologist at the Brigham and Women’s Hospital, once confided to a startled group of medical students and residents during a case presentation, “That disease saw me long before I saw it.”
In most of these unknown cases, it’s not that I’m completely lost. I know in a general sense that there is an inflammatory disease present. I know that there doesn’t appear to be cancer in the background, or infection. I have a lengthy list of conditions that the patient does not have. But one of my most difficult tasks when I sit down with a patient at a follow-up visit is to take a deep breath, adjust my glasses and admit that I don’t know what’s wrong.
A Long & Winding Road
Such was the case for Leon Woodle, a 58-year-old pig farmer I consulted on some years ago. Leon’s history was a long and rocky road. He was a chronic hepatitis C virus carrier—presumably from shooting up heroin in his 20s, or maybe from the blood transfusions he required after a head-on motor vehicle collision some years later. His serotype, the specific subtype of hepatitis C virus he was infected with, was unlikely to permanently damage his liver, so his doctors had held off on antiviral medications. That was fine with Leon, because treatment with alpha-interferon and ribovarin is often associated with significant side effects and doesn’t always cure the disease.