PMF and Gaucher: similar symptoms can cause misdiagnosis

New York has many experienced and respected doctors, but no medical professional is immune to making mistakes. A medical case from Europe that spanned over 20 years illustrates the problems that can be caused by a misdiagnosis. In this case, two diseases, Gaucher disease and myelofibrosis, were confused.

A 32-year-old female patient in Rome was diagnosed with myelofibrosis in 1994. Primary myelofibrosis, or PMF, is disease of the blood, bone marrow and liver. The diagnosis was made after an analysis of the patient's liver and bone marrow. She opted for treatment with chemotherapy rather than a stem cell transplant.

Two years later, she still had symptoms, including enlarged liver and spleen, low white blood cell count and low platelet levels. A biopsy of her bone marrow revealed the presence of Gaucher cells. Eventually, she was prescribed enzyme replacement therapy. Six years after beginning treatment, she still had an enlarged liver and spleen. It was believed she had both PMF and Gaucher disease.

In 2013, the diagnosis of PMF was discarded after genetic testing, and her diagnosis was Gaucher disease only. She continued with enzyme replacement therapy; in 2017, her blood cell count was normal, and her liver was of normal size although her spleen was slightly enlarged.

Researchers who examined this case suggest the use of a diagnostic algorithm for patients who have enlarged liver and spleen and low blood cell count. They say that this could help to avoid misdiagnosis.

This case of misdiagnosis caused the patients many years of persistent symptoms as well as repeated medical tests. Good doctors can make honest mistakes, but a patient may be entitled to compensation when a medical professional makes a mistake due to neglect or an avoidable error. Something as simple as misread test results or a typographical error could have devastating consequences and be a case of medical malpractice.