The Causes And Diagnosis Of Erdheim-Chester Disease

Diagnosis

The diagnosis of Erdheim-Chester disease begins with a physical exam and a biopsy. A pathologist will examine the biopsied tissue and check for signs of foamy histiocytosis and the presence of Touton-type giant cells. If the biopsy is positive, numerous tests will be needed to determine the extent of the disease. In ninety-five percent of patients, bone infiltration is present, so CT scans and X-rays will be needed to establish the degree of damage to the skeletal system. To assess damage to the organs, an MRI will be needed. A PET scan may be required to test brain function. In this test, a small amount of radioactive sugar is injected. Pathological changes in brain function can then be detected as abnormally low sugar metabolism in damaged regions. In patients with serious neurological involvement, an electroencephalogram (EEG) will be needed. The EEG detects abnormal electrical activity that may result from CNS destruction. The clinician will also need to order an electrocardiogram (EKG) and echocardiogram. These tests will be needed to determine if there is fibrosis or scarring to the heart muscle or valves.