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Study shows Gaucher disease often misdiagnosed as PMF

Ohio residents who have been diagnosed with Gaucher disease know what’s involved — the body can no longer create a certain enzyme that breaks down fatty chemicals. This results in a fat buildup in bone marrow and certain organs, especially the liver and spleen. Since Gaucher disease shares similar symptoms with primary myelofibrosis, including liver and spleen enlargement, the two are often mistaken for each other.

Researchers have recently published a report about this unfortunate trend, concluding that a diagnostic algorithm should be made for patients with enlarged livers and spleens combined with a low blood cell count. It also explores the case of a 32-year-old woman who, back in 1994, was diagnosed with PMF when she in fact had Gaucher disease.

Her symptoms included an enlarged liver and spleen as well as low levels of white blood cells and platelets. After a liver analysis and bone marrow biopsy, she began to undergo chemotherapy for myeloma. After two years passed, her symptoms persisted. A second BM biopsy revealed the presence of Gaucher cells, but the enlarged liver and spleen indicated she had both Gaucher disease and PMF.

The PMF diagnosis was eventually rejected based on genetic testing. From 1997 to 2017, the patient underwent enzyme replacement therapy. Her liver size and blood cell count have returned to normal; although her spleen is slightly enlarged.

In cases of misdiagnoses, there are requirements to be met before a victim can win a medical malpractice claim. This is why a victim may want to have their case evaluated by a lawyer. Legal counsel could request an inquiry with the medical board and hire third-party medical experts to determine the degree of the injuries and unnecessary treatments.