A female patient in her early thirties came to me for a second opinion regarding a diagnosis of sarcoidosis based on a lymph node biopsy that showed granulomas. Per the guidelines for managing sarcoidosis, she had been treated with prednisone, but was getting worse rather than better. When I examined her, she had a 104 degree fever of unknown origin.
Diagnosis and treatment
When I reviewed her case, I thought it was atypical for sarcoidosis, which I had seen many times. I started by reviewing causes for granulomatous inflammation (Initially, I find it helpful to do the broadest possible search with something like Google, rather than trying to zero in on one thing). The search led me to a disease that I had never heard of: hemophagocytic lymphohistiocytosis (HLH), which is a disease of the immune system that typically occurs in children, but, in rare cases, can affect adults. I don't typically handle pediatric cases, which explains why I had not encountered it before.
I next turned to UpToDate and found a comprehensive discussion of HLH, even for adults. I reviewed the list of criteria and symptoms together with the patient and discovered that most of them matched her symptoms. We ordered a few additional tests, including a ferritin blood test, which confirmed our suspicions that she had been misdiagnosed with sarcoidosis. My patient did indeed have HLH. We reviewed the information together and I emailed her the UpToDate patient education topic on HLH so she could do more extensive research on her own. The patient was well equipped to advocate for herself and went back and forth between her hematologist-oncologist and me with questions.
Ultimately, the patient was admitted to the Mayo Clinic for a bigger biopsy of her liver and a splenectomy. She was subsequently diagnosed with both lymphoma and HLH, and was started on appropriate treatment. Her oncologist has since told me the patient is responding well to treatment.
Let's recap what happened to my patient: Her initial diagnosis was inaccurate, which sent her down the wrong pathway for treatment; she continued to feel worse. UpToDate helped me to uncover the correct diagnosis, which is fortunate, since it's likely she would have been sent to another specialist. This would have cost her time, and she may have experienced further deterioration and weakening in her condition. HLH is quite serious; the course correction in her diagnosis may have saved her life.