A 13 August 2020 New York Times “Diagnosis” column “He Was an Active Guy. Suddenly His Legs Ached After a Few Blocks” by Lisa Sanders MD featured a case that had eluded diagnosis for months.
Rosenblum and her intern, Melissa Mariscal, went through everything they knew about the patient: He had chronic sinusitis and a pneumonia but no fevers or chills. The cartilage in his ears was red and swollen. There was blood in his urine. He had muscle pains that worsened with exertion but no evidence of muscle breakdown. And he had these incredibly high inflammatory markers. The fact that so many parts of his body were affected made a strong argument for some kind of rheumatologic disease.
Using the findings available at that point, the following Diagnose screen was obtained:
Granulomatosis with polyangiitis (GPA) has essentially all of the probability. Then ….
As they spoke, the results from the patient’s CT scan came back. He had several masses (called granulomas) and some holes (called cavitations) in his lung tissue. Based on that finding, plus his history of sinusitis, the radiologist strongly suggested they consider the diagnosis of something known as Granulomatosis with polyangiitis (GPA). GPA is a disease of the small- and medium-size arteries in the body, which is a reason it can affect so many different parts. It is characterized by the development of granulomas — clumps of white cells and other tissues that form in reaction to infection or inflammation — in the lungs, in the upper respiratory tracts and in the kidneys. Untreated, the disease can kill, destroying the involved tissues.
In the software, the fit with GPA is good, but the absence of “Steroid treatment improves condition” was an omission in the database, and when that is rectified the fit will be even better.
Subscribers to the software can load the findings in this case by opening the software and then clicking the share icon at the right of the toolbar and adding the following patient string: