Contact Menu
Massaro Law, LLC

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.

No Comments

Leave a comment
Comment Information

Consultations Are FREE In Injury Cases

Bold labels are required.

Contact Information
disclaimer.

The use of the Internet or this form for communication with the firm or any individual member of the firm does not establish an attorney-client relationship. Confidential or time-sensitive information should not be sent through this form.

close

Privacy Policy

Email us for a response

Contact our legal team

Massaro Law, LLC 152 East Otterman Street Greensburg, PA 15601-2534 Phone: 724-834-5500 Fax: 724-834-5529 Greensburg Law Office Map

Call our friendly team 24/7 to schedule your FREE initial consultation. We can't wait to help you with your legal situation!

Back to top