Dr. Zimran Discusses Gaucher Disease Biomarkers

Ari Zimran, MD, Shaare Zedek Medical Center in Jerusalem, Israel, discusses the use of biomarkers in Gaucher disease, which help physicians monitor the progression of the disease.

A typical parameter for identifying Gaucher disease is a blood test. A typical panel looks for levels of angiotensin converting enzyme, chitotriosidase, and tartrate resistant acid phosphatase. Patients that are stable will also have stable biomarkers whereas patients who are deteriorating will have an elevated expression of the markers. An increase in the biomarkers can precede the deterioration of the patient, which can lead the physician to start therapy.

The expression of biomarkers should go down in patients who are receiving treatment and those that go up during treatment can hint to the possibility of an impending complication. When that is the case physician should see the patient more frequently or increase the treatment dose.