According to a story from the New York Times, a 50 year old Houston man had seen his health decline rapidly in a little over a year. After declining from a healthy weight, he was now frail and uncoordinated. It seemed like only a matter of time before death would approach. For much of this period he was receiving treatment for Guillain-Barre syndrome or chronic inflammatory demyelinating polyneuropathy, but the treatments suddenly stopped working. His wife had a hunch that it was something else: POEMS syndrome. Her hunch would end up saving his life.
About POEMS Syndrome
POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, myeloma protein, and skin changes) is a rare form of blood cancer that results from clones of abnormal plasma cells. It often appears around middle age and men are more likely to be affected than women. The cause of POEMS syndrome is not well understood. Symptoms and signs of the cancer include reduced lung function, pulmonary hypertension, various skin abnormalities, enlarged liver/spleen/lymph nodes, presence of myeloma protein, swelling, diabetes, erectile dysfunction, testicular atrophy, and hypothyroidism. The presentation of the disease can vary considerably, leading to delays in diagnosis. Treatment varies depending on the circumstances of the case, but may include surgery, chemotherapy, radiation, and stem cell transplant. To learn more about POEMS syndrome, click here.
The Rare Disease Diagnosis Struggle
This story is another classic case that reveals just how difficult it can be to get an accurate diagnosis for a rare disease. The man’s total lack of reflexes along with the presence of some nerve damage and proteins in the cerebrospinal fluid was what led his doctors to suspect Guillain-Barre syndrome or a related disease.
However, only after a couple of months of treatment, that man’s condition began to further decline. Before long he was forced to use a wheelchair. A few more tests revealed nothing conclusive. In the meantime, his wife had been researching POEMS syndrome and soon found some cases that sounded remarkably similar to her husband’s.
After seeking a second opinion, another scan revealed the presence of a small tumor on his pelvic bone; this was the critical sign that the doctors needed to diagnose POEMS syndrome. The patient underwent a stem cell transplant, which was a risky proposition considering his already weakened state. After a long period of recovery and complications, the man’s life is mostly back to normal. He can work full time and is able to walk. In this case, the patient was fortunate to have a determined and stubborn partner who was not ready to take everything the doctors said at face value.
