Erdheim-Chester disease
| Classification according to ICD-10 | |
|---|---|
| D76.3 | Other histiocytosis syndromes |
| ICD-10 online (WHO version 2019) | |
The Erdheim-Chester disease is a disease from the group of histiocytosis . The mean age at the onset of the disease is 53 years. There is no familial accumulation. So far, less than 500 cases have been documented.
Historical aspects
The future cardiologist William Chester (1903–1974) first described the disease in 1930. The disease was discovered during a research stay with Jakob Erdheim (1874–1937) in Vienna. It was not until 1972 that the American pathologist Henry Lewis Jaffe (1896–1979) coined the deonym Erdheim-Chester disease as a name for the disease.
Symptoms
Since the disease can affect many organ systems, the symptoms are correspondingly diverse. The skeletal system is affected in about half of the patients. Then bone pain is in the foreground with symmetrical osteosclerotic changes in the diaphyses of the long tubular bones . A exophthalmus (27%), fever, weight loss and xanthomas of the skin (19%) are less common. Involvement of the retroperitoneal space, kidneys and lungs have also been described. Intracranial lesions are found particularly in the area of the cerebellum, pituitary gland and brain stem and can manifest themselves as ataxia or diabetes insipidus .
therapy
Due to the rarity of the disease, there are no prospective, controlled therapy studies. The empirical therapy takes place with steroids , bisphosphonates , cyclophosphamide and etoposide . Treatment with interferon-α may be a promising approach. Treatment with vemurafenib can be considered in patients with a BRAF V600E mutation .
forecast
The chances of recovery depend on the extent to which the internal organs are affected. In the event of unsuccessful therapy, the affected person usually dies 2 to 3 years after diagnosis due to congestive heart failure, pneumonia, or kidney failure.
literature
- RD Mazor et al .: Erdheim-Chester Disease: a comprehensive review of the literature. In: Orphanet Journal of Rare Diseases. 8, 2013, p. 137, doi : 10.1186 / 1750-1172-8-137 .
- G. Goyal et al .: Erdheim-Chester disease: Consensus recommendations for the evaluation, diagnosis, and treatment in the molecular era . Blood , 2020; doi : 10.1182 / blood.2019003507 .
Individual evidence
- ↑ G. Cavalli, B. Guglielmi et al. a .: The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases. In: Annals of the Rheumatic Diseases . Volume 72, Number 10, October 2013, pp. 1691-1695, ISSN 1468-2060 . doi : 10.1136 / annrheumdis-2012-202542 . PMID 23396641 . (Review).
- ↑ Chester, On Lipoid Granulomatosis . Virchow's Arch Pathol Anat Physiol. 1930; 279: 561-602.
- ↑ WL Rush, et al .: Pulmonary pathology of Erdheim-Chester disease. In: Modern Pathology . Volume 13, Number 7, July 2000, pp. 747-754, ISSN 0893-3952 . doi : 10.1038 / modpathol.3880130 . PMID 10912934 .
- ↑ Veyssier-Belot et al .: Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. In: Medicine. Volume 75, Number 3, May 1996, pp. 157-169, ISSN 0025-7974 . PMID 8965684 .
- ↑ JA Mills, et al .: Case records of the Massachusetts General Hospital. Case 25-2008. A 43-year-old man with fatigue and lesions in the pituitary and cerebellum. In: The New England Journal of Medicine . Volume 359, Number 7, August 2008, pp. 736-747, ISSN 1533-4406 . doi : 10.1056 / NEJMcpc0804623 . PMID 18703477 .
- ↑ F. Braiteh et al .: Successful treatment of Erdheim-Chester disease, a non-Langerhans cell histiocytosis, with interferon-alpha. In: Blood. Volume 106, Number 9, November 2005, pp. 2992-2994, ISSN 0006-4971 . doi : 10.1182 / blood-2005-06-2238 . PMID 16020507 .
- ↑ J Haroche et al .: Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF (V600E) -mutated Erdheim-Chester disease. In: J Clin Oncol. 2015 Feb 10; 33 (5): 411-8. doi : 10.1200 / JCO.2014.57.1950 . PMID 25422482 .
