The similar clinical and laboratory features of primary myelofibrosis (PMF) — a disease of the liver, blood, and bone marrow — and Gaucher disease may sometimes result in a misdiagnosis of the patient, a case report shows.
The report, “Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?” published in the journal Acta Haematologica, discusses the case of a patient initially diagnosed with PMF who was found to have Gaucher disease two years later.
In November 1994, a 32-year-old woman was referred to a hematology center in Rome due to an enlarged liver and spleen, low white blood cell count, and low platelet levels. She was diagnosed with PMF based on analyses of her bone marrow and liver.
“In the case presented here, the first BM [bone marrow] biopsy confirmed the suspicion of PMF because of a striking marrow framework of myelofibrosis without Gaucher cells,” the investigators reported.
The patient refused a stem cell transplant, receiving instead low-dose Alkeran (melphalan) — a chemotherapy used to treat myeloma, among other cancers. But two years after starting the treatment, her symptoms still persisted.
A bone marrow biopsy then revealed the presence of Gaucher cells — large cells found especially in the spleen, lymph nodes, liver, and bone marrow of patients with the disease. Blood test results were also suggestive of Gaucher.
In June 1997, she was prescribed enzyme replacement therapy (ERT) with Cerezyme (imiglucerase) at a monthly dose of 30 U/kg. One year later, it was increased to 60 U/kg per month due to the persistence of symptoms.
Platelet and white blood cell counts, as well as the hemoglobin level, were in the normal range six years after starting treatment. But she still had an enlarged liver and spleen, suggesting she had both PMF and Gaucher disease.
In 2013, the diagnosis of PMF was excluded based on genetic testing, indicating that the patient’s sole diagnosis was Gaucher disease. ERT was continued at the same dose, and the size of the patient’s liver and spleen gradually decreased. In 2017, 20 years after beginning treatment, the patient’s blood cell count and liver size were normal, while her spleen was still slightly enlarged.
“In order to avoid future misdiagnoses, the use of a diagnostic algorithm for patients with combined hepatosplenomegaly and cytopenia is recommended,” the researchers concluded.