Erdheim-Chester disease is a very rare condition that can affect many organs of the body and so there can be a range of symptoms depending on the organs affected. It is caused by an abnormal increase in a type of blood cell (myeloid cells) which accumulate in areas around the body.The most common part of the body affected is the bone where there is a hardening and increase in bone density which causes bone pain. The myeloid cells can also accumulate in connective tissue in the brain and spinal cord, lungs, heart, skin or area around the eye. This causes the affected tissue to become thickened and dense which stops the organs functioning properly and leads to heart and lungs problems, diabetes, renal failure, vision issues, and brain function problems like unsteadiness, tremor or trouble walking. Diagnosis of Erdheim-Chester disease occurs by looking at the clinical symptoms and the results of radiological, laboratory, and histological studies. A proportion of patients diagnosed with Erdheim-Chester disease have mutations of the BRAF V600E gene, which increases treatment options.

Drugs used to treat Erdheim-Chester Disease