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Gaucher Disease, PMF and Their Misdiagnoses

Gaucher disease is a disorder where fatty materials begin to build up in organs like the liver and spleen as well as in the bone marrow. One of the primary symptoms is an enlargement of the liver and spleen; however, since this symptom is shared by another condition called primary myelofibrosis, the chances of a misdiagnosis are actually quite high. Doctors and patients alike in North Carolina may want to know more about this condition.

The journal Acta Haematologica has published a report that gives a particular case of misdiagnosis. In 1994, a 32-year-old woman who was suffering from an enlarged liver, an enlarged spleen and low white blood cell and platelet levels was diagnosed with PMF at a hematology center. This was mostly on the strength of a liver analysis and bone marrow biopsy.

However, when two years of chemotherapy to treat myeloma still left the woman with persistent symptoms, a second BM biopsy was done. This time, doctors detected Gaucher cells in the bone marrow. Blood test results also suggested that the patient had Gaucher disease. From 1997 to 2017, the patient underwent enzyme replacement therapy; her liver size and blood cell count have since returned to normal. Researchers conclude that a diagnostic algorithm is necessary for patients with an enlarged liver and spleen and reduced blood cell count.

For a failure to diagnose a condition to be a form of negligence, certain requirements must be met. There must be an existing doctor-patient relationship, and the patient must do all that the doctor instructs. Those who believe they were the victims of malpractice can speak with a lawyer about filing a claim. Legal counsel could utilize a network of medical professionals and request an inquiry with the local medical board. The resulting information could be used in negotiations.


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