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Report analyzes misdiagnoses of Gaucher disease and PMF

Pennsylvania residents may want to know that there are two medical conditions that are often mistaken for each other. Gaucher disease is an inherited disorder stemming from the body's lack of an enzyme called glucocerebrosidase. As the enzyme is required to break down certain fats, the disease results in fatty material building up in the liver, brain and bone marrow.

This disorder can be misdiagnosed as primary myelofibrosis, a blood cancer that forms scar tissue in the bone marrow and also affects the liver. The fact that the two share similar symptoms influences the rate of misdiagnosis. The journal Acta Haematologica has published a report which describes one case of misdiagnosis.

In 1994, a 32-year-old woman was suffering from an enlarged liver and spleen as well as low white blood cell and platelet levels. A liver analysis and bone marrow biopsy led doctors to diagnose her with PMF. The patient underwent chemotherapy for myeloma and other cancers, but her symptoms persisted for two years. A second biopsy found Gaucher cells in the bone marrow. The patient then began enzyme replacement therapy in 1997, regaining normal white blood cell and platelet levels six years later. In 2013, genetic testing excluded all possibility of a PMF diagnosis. Her liver and spleen size decreased by 2017.

Researchers concluded that a diagnostic algorithm for the above-mentioned symptoms could have prevented misdiagnosis. Such advice can be seen as too little, too late by victims of medical negligence. Thankfully, they can file a claim to be compensated for unnecessary medical treatments, pain and suffering, lost wages and anything else that applies. It would be a good idea to retain a lawyer, though, as these types of cases can be quite complex.

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