What causes HES/CEL?
An overproduction of eosinopihils in the bone marrow with migration into the blood stream and various organs are upstream events associated with the disease. Changes in chromosomes (genetic material) associated with HES/CEL usually involve translocations of the platelet-derived growth factor receptor gene known as PDGFR. They are a major cause of abnormal genetic conditions in humans. If a change involves a translocation, part of a chromosome breaks off and attaches to another chromosome. Adjacent to the PDGFR gene are a number of genes important in the growth and maturation of eosinophils. The normal function of these genes may be adversely impacted by the PDGFR translocation process, causing the unexplained eosinophilia which is observed.
