Erdheim-Chester DiseaseSymptoms, Doctors, Treatments, Advances & More
Learn About Erdheim-Chester Disease
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a histiocytic neoplasm, which results in overproduction of cells called histiocytes. Histiocytes normally function to destroy foreign substances and protect the body from infection. In Erdheim-Chester disease, the excess production of histiocytes (histiocytosis) leads to inflammation that can damage organs and tissues throughout the body, causing them to become thickened, dense, and scarred (fibrotic); this tissue damage may lead to organ failure.
More than half of people with Erdheim-Chester disease have a specific mutation in the BRAF gene. Mutations in other genes are also thought to be involved in this disorder.
Erdheim-Chester disease is a rare disorder; its exact prevalence is unknown. More than 500 affected individuals worldwide have been described in the medical literature. For unknown reasons, men are slightly more likely to develop the disease, accounting for about 60 percent of cases.
This condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.
Mayo Clinic Hospital In Florida
Jason Young is a Radiologist in Jacksonville, Florida. Dr. Young is rated as an Elite provider by MediFind in the treatment of Erdheim-Chester Disease. His top areas of expertise are Rosai-Dorfman Disease, Erdheim-Chester Disease, Interstitial Lung Disease, and Primary Lymphoma of the Brain.
MN - Cancer Hematology
Jithma Abeykoon is a Hematologist in Rochester, Minnesota. Dr. Abeykoon is rated as an Elite provider by MediFind in the treatment of Erdheim-Chester Disease. His top areas of expertise are Histiocytosis, Waldenstrom Macroglobulinemia, Reticulohistiocytoma, Tissue Biopsy, and Bone Marrow Transplant.
J Haroche practices in Paris, France. Haroche is rated as an Elite expert by MediFind in the treatment of Erdheim-Chester Disease. Their top areas of expertise are Reticulohistiocytoma, Histiocytosis, Erdheim-Chester Disease, Non-Langerhans-Cell Histiocytosis, and Tissue Biopsy.
Summary: The purpose of this study is to determine the uptake of the imaging agent \[68Ga\]-pentixafor with PET/CT scans in people with monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), and non-Hodgkin lymphoma (NHL), or you have histiocytic neoplasms (Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD) and/or Rosai-Dorfman disease (RDD).
Summary: The investigators want to understand more about what kinds of health problems are caused by histiocytosis, what happens as a result of different treatments, and how ECD affects people's lives, their feelings and their attitudes. The investigators also want to learn how these things change over time for people with these conditions. To try to figure this out, doctors would like to collect informati...
Published Date: April 01, 2017
Published By: National Institutes of Health