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 practicing medicine in Jacksonville, Florida. Dr. Young is rated as an Elite provider by MediFind in the treatment of Erdheim-Chester Disease. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Rosai-Dorfman Disease, Erdheim-Chester Disease, Interstitial Lung Disease, and Primary Lymphoma of the Brain.
MN - Cancer Hematology
Jithma Abeykoon is a Hematologist practicing medicine in Rochester, Minnesota. Dr. Abeykoon is rated as an Elite provider by MediFind in the treatment of Erdheim-Chester Disease. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Waldenstrom Macroglobulinemia, Reticulohistiocytoma, Histiocytosis, Tissue Biopsy, and Bone Marrow Transplant.
J Haroche practices practicing medicine in Paris, France. Haroche is rated as an Elite expert by MediFind in the treatment of Erdheim-Chester Disease. They are also highly rated in 21 other conditions, according to our data. Their clinical expertise encompasses Reticulohistiocytoma, Histiocytosis, Erdheim-Chester Disease, Non-Langerhans-Cell Histiocytosis, and Tissue Biopsy.
Summary: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that primarily affects adults but may also occur in pediatric patients. It is characterized by the accumulation of foamy histiocytes with a distinctive immunophenotype in multiple anatomical sites, most commonly the long bones, retroperitoneal and perirenal tissues, the heart, the central nervous system, and the pitu...
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).
Published Date: April 01, 2017
Published By: National Institutes of Health