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When diagnosis of rheumatologic disease does not "follow the book": a disorder can present atypically or the clinical picture may change.

Article Excerpt
Not all patients with symptoms suggestive of a rheumatologic disease leave their doctor's office with a firm diagnosis in hand. Although disease classification and diagnosis guidelines are available to help physicians evaluate their patients, a rheumatologic disorder can present atypically, or the patient might not have all of the criteria needed to unequivocally support a given diagnosis. Also, the clinical picture may change as the disease progresses from early to middle and late stages. Consider, too, that many physicians practice in areas where specialists are not available to consult on cases that are especially challenging or questionable.

Thus, the process of arriving at an accurate diagnosis often is an imprecise art. The physician may revisit evidence, assess the patient at intervals, test response to treatment, consult with colleagues, and rely on past experiences rather than primarily on a published list of diagnostic criteria to confirm his or her clinical suspicions.

Scleroderma (systemic sclerosis) is a rheumatologic disorder that can be mistaken for rheumatoid arthritis (RA) or mixed connective tissue disease. Accurate diagnosis influences assessment of the patient's prognosis as well as the choice of management. In this article, we use a scleroderma case study to highlight the potential for misdiagnosis of a rheumatologic condition and demonstrate potential pitfalls the physician might encounter when evaluating patients.

Case presentation

MJ is a 62-year-old man with pulmonary fibrosis. In 2006, he was referred by his primary care physician to the rheumatology clinic with a provisional diagnosis of mixed connective tissue disease and RA. The patient had a 30-year history of the following rheumatologic symptoms: diffuse skin tightness; general fatigue; sicca syndrome; Raynaud phenomenon; and constant, moderately severe bilateral hand pain. The hand pain worsens in the mornings, when MJ's hands are also stiff for about an hour.

Findings

On examination, the patient had no skin tightness. However, Velcro rales were audible at the lung bases....

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