Primary myelofibrosis, Gaucher disease prone to misdiagnosis

Doctors in Pennsylvania and elsewhere could have trouble distinguishing between primary myelofibrosis and Gaucher disease when diagnosing patients, according to a report. The report was published in the journal Act Haematologica.

Primary myelofibrosis, or PMF, is a disease that affects the body's blood, bone marrow and liver, while Gaucher disease is an inherited disorder of the metabolism that can also affect the liver and other organs. The report focused on a 1994 case involving a 32-year-old woman who was misdiagnosed with PMF when she actually had Gaucher disease. The patient had a low white blood cell count, low platelet levels and an enlarged spleen and liver. A bone marrow biopsy and an analysis of her liver led doctors to diagnose her with PMF. She was treated with chemotherapy, but she had still not recovered after two years. Another bone marrow biopsy was performed, which revealed the presence of Gaucher cells. A blood test also indicated she had Gaucher disease.

In 1997, the patient began a monthly enzyme replacement therapy regime. After six years, her platelet and white blood cell counts were normal. However, she still had an enlarged liver, which made doctors suspect she may have both Gaucher disease and PMF. In 2013, the patient underwent genetic testing that eliminated the possibility of PMF. She continued treatment, and her liver eventually returned to normal size. The report suggested that doctors use a diagnostic algorithm with combined hepatosplenomegaly and cytopenia to help avoid misdiagnosing future patients.

A misdiagnosis can cause patients to undergo needless treatments and/or suffer a worsened medical condition. When this happens, patients have the right to pursue a medical malpractice claim against the responsible doctor. An attorney could evaluate a patient's case and recommend the appropriate legal remedy.

Source: Gaucher Disease News, "Similar Symptoms of Gaucher and Primary Myelofibrosis Can Result in Misdiagnosis, Case Report Shows", Janet Stewart, July 5, 2018

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