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Langerhans cell histiocytosis

Orpha number ORPHA389
Synonym(s) Histiocytosis X
Langerhans cell granulomatosis
Prevalence 1-9 / 100 000
Inheritance Unknown
Age of onset All ages
ICD-10
  • C96.0
  • C96.5
  • C96.6
ICD-O -
OMIM
UMLS
  • C0019621
MeSH
  • D006646
MedDRA
  • 10069698

Summary

Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. Its prevalence is estimated at 1-2/100,000. In the majority of cases, onset occurs during childhood. Bone is the most frequently affected organ (80% of cases), followed by the skin (35% of cases) and then the pituitary gland (25% of cases). However, involvement of these organs does not affect the vital prognosis. Involvement of the haematopoietic system (cytopenia), lungs and liver is much less common (15-20% of cases) but results in more severe disease. The aggressive nature of the haematological forms in young children, the long-term sequelae associated with lung and liver (sclerosing cholangitis) involvement, and the neurodegenerative manifestations (2% of cases) make LCH a severe disease. The disease may occur as one or several crises. It may result in aesthetic or functional sequelae with variable expression depending on the sites involved (deafness, respiratory or hepatic failure, diabetes insipidus, growth hormone deficiency, and cerebellar syndrome). In adults, the clinical picture is characterised by isolated lung disease, with a strong association with smoking. Although progress has been made in understanding the pathology of the disease, the aetiology remains unknown. Diagnosis of LCH usually relies on histological and immunohistochemical analysis of the affected tissues. A thoracic CT scan showing typical radiological findings may allow diagnosis in adults with isolated lung involvement. A large range of alternative diagnoses may be considered, depending on the associated clinical picture and radiological findings. The choice of therapeutic approach depends on the extent of disease, determined by routine examinations (clinical examination, haemogram, liver function tests, and bone and chest radiographs). Local treatment is usually effective for forms limited to one organ. In children, treatment of the systemic forms relies on the combination of corticosteroids and vinblastine. Smoking cessation is necessary for adults with lung involvement. Second-line treatments are available in specialised centres for patients with progressive disease. Given the polymorphic and chronic nature of the disease, management of LCH should be multidisciplinary. Treatment protocols for adult forms of the disease are less well established than those for patients with childhood onset. Long-term follow-up is needed for detection and management of later-onset sequelae. The vital prognosis is not usually affected in childhood forms, except in cases with haematological involvement resistant to first-line therapies.

Expert reviewer(s)

  • Dr Jean DONADIEU
  • Pr Abdellatif TAZI

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Detailed information

Summary information
Review article
  • EN (2008)
  • IT (2008)
  • FR (2006,pdf)
Clinical practice guidelines
  • ES (2013)
  • IT (2013)
  • EN (2013)
  • DE (2012)
  • FR (2010,pdf)
Article for general public
  • IT (2005)
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