Erdheim-Chester disease

From Wikipedia, the free encyclopedia

Erdheim-Chester disease
Classifications and external resources

ICD-10	C96.1
ICD-9	202.3
DiseasesDB	29792
MeSH	C15.604.667.400.410.224

Erdheim-Chester disease (also known as Erdheim-Chester syndrome) is a rare form of non-Langerhans-cell histiocytosis. Usually, onset is in middle age. The disease entails an infiltration of lipid-laden macrophages, multinucleated giant cells, an inflammatory infiltrate of lymphocytes and histiocytes in the bone marrow, and a generalized sclerosis of the long bones. ^[1]

Contents 1 History 2 Clinical Presentation 3 Histology 4 Diagnosis 5 Treatment 6 ECD in popular culture 7 References

[edit] History

The first case of ECD was reported by W. Chester in 1930.

[edit] Clinical Presentation

ECD affects prodominatly adults, with a mean age of 53 years. (Veyessier-Belot et al., 1996). Long bone involvement is almost universal in ECD patients and is bilateral symmetrical in nature. More than 50% of cases have some sort of extraskeletal involvement. This can include kidney, skin, brain and lung involvement, and less frequently retroorbital tissue, pituitary gland and heart involvement is observed. Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. The pain is often described as mild but permanent, and juxtaarticular in nature. Exophthalmos occurs in some patients and is usually bilateral, symmetric and painless. In most cases it occurs several years before the final diagnosis.

A review of 59 case studies by Veyssier-Belot, C et al. in 1996 reported the following symptoms in order of frequency of occurance:

• Bone pain
• Retroperitoneal fibrosis
• Diabetes insipidus
• Exophthalmos
• Xanthomas
• Neurological signs (including Ataxia)
• Dyspnea caused by interlobular septal and pleural thickening.

[edit] Histology

Histologically, ECD differs from Lagerhans cell histiocytosis (LCH) in a number of ways. Unlike LCH, ECD does not stain positive for S-100 protein and electron microscopy of cell cytoplasm does not disclose Birbeck granules. {Veyssier-Belot, 1996} Tissue samples describe xanthomatous or xanthogranulomatous infiltration either by spumous histiocytes or lipid-laden macrophages or histiocytes, and are usually surrounded by fibrosis. Bone biopsy is offers the greatest likelihood of being diagnostic. ECD is best characterized by histiocytes that stain positive for CD68.

[edit] Diagnosis

Radiologic osteosclerosis and histology are the main diagnostic features. Diagnosis can often be difficult because of the rareness of ECD as well as the need to differentiate it from Langerhans' histiocytosis. A diagnosis from neurological imaging may not be definitive. The presence of symmetrical cerebellar and pontine signal changes on T2-weighted images seem to be typical of ECD, however, multiple sclerosis and metabolic diseases must also be considered in the differential diagnosis (Weidauer, S. et al., 2002)

[edit] Treatment

Current treatment options include:

• Surgical Debulking
• High-dose Corticosteroid therapy
• Cyclosporine
• Interferon-α
• Chemotherapy
• Radiation therapy

All current treatments have had varying degrees of success.

The vinca alkaloids and anthracyclines have been used most commonly in ECD treatment. (Gupta et al., 2002).

[edit] ECD in popular culture

Erdheim-Chester disease makes an appearance on the television show House in season 2, episode 17 - it was however incorrectly presented as an highly acute syndrome (false) and with a clear effective treatment (that has yet to be discovered). In addition, the episode showed that the patient worsened when given interferon (among other things) while the disease was still untreated. Interferon (alpha) is a treatment for Erdheim-Chester (see above).

[edit] References

Gupta A, Kelly B, and McGuigan JE (2002). Erdheim-Chester disease with prominent pericardial involvement. Clinical, radiologic, and histologic findings. Am J Med Sci, 324,96-100.

Veyssier-Belot, C., Cacoub, P.Caparros-Lefebvre, D., et al. (1996). Erdheim-Chester disease, clinical and radiologic characteristics of 59 cases. Medicine (Baltimore), 75,157-169.

Weidauer S, von Stuckrad-Barre S, Dettmann E, Zanella FE, Lanfermann H (2002). Cerebral Erdheim-Chester disease: case report and review of the literature. Neuroradiology, 45,241-5.