Erdheim–Chester disease

The Erdheim - Chester disease is a disease from the group of histiocytosis. The mean age at onset is 53 years. A family history does not exist. So far, 500 cases have been documented.

Historical Aspects

The later cardiologist William Chester (1903-1974) described the disease in 1930 for the first time. The discovery of the disease was performed during a research stay at Jacob Erdheim (1874-1937) in Vienna. Only in 1972 was coined by the American pathologist Henry Lewis Jaffe ( 1896-1979 ) the Deonym Erdheim - Chester disease as a designation for the disease.

Symptoms

Since the disease can affect many organ systems, the symptoms are correspondingly diverse. In about half of the patients the skeletal system is affected. Then bone pain are at symmetrical osteosclerotic changes in the diaphysis of the long bones in the foreground. A proptosis (27% ), fever, weight loss and xanthomas of the skin ( 19%) are less common. Moreover, an involvement of the retroperitoneal space, the kidney and the lung have been described. Intracranial lesions are found especially in the area of the cerebellum, pituitary and brain stem and can make insipidus manifested by ataxia, or diabetes.

Therapy

Due to the rarity of the disease, there are no prospective controlled treatment studies. Empirical therapy is done with steroids, bisphosphonates, cyclophosphamide and etoposide. Treatment with interferon - α may represents a promising approach

Forecast

The chances of recovery depend on the extent to which the internal organs are affected. In the case of an unsuccessful therapy sufferers usually die 2-3 years after diagnosis due to congestive heart failure, pneumonia or kidney failure.