Langerhans cell histiocytosis

Last reviewed: 4 Sep 2022
Last updated: 01 Feb 2022

Summary

Definition

History and exam

Key diagnostic factors

  • age <15 years
  • bone pain and/or swelling
  • skin rash
  • polyuria and polydipsia
  • growth or sexual maturation failure
  • vertebra plana
  • hepatosplenomegaly
More key diagnostic factors

Other diagnostic factors

  • cough, dyspnoea
  • chest pain
  • orbital abnormalities
  • jaundice
  • ascites
  • cytopenias
  • fever
  • anorexia
  • weight loss
  • irritability
  • ear pain
  • ear discharge
  • hearing loss
  • perforated tympanic membrane
  • headache
  • neurological signs
  • bloody diarrhoea
  • oral mucosa lesions
  • lymphadenopathy
  • thyroid enlargement
Other diagnostic factors

Risk factors

  • smoking
  • family history of thyroid disease
  • perinatal infections
More risk factors

Diagnostic investigations

1st investigations to order

  • FBC
  • LFTs
  • serum albumin
  • renal function
  • serum electrolytes
  • serum calcium
  • inflammatory markers
  • endocrine evaluation (adults)
  • BRAF V600E mutation analysis (adults)
  • skeletal survey (children)
  • chest x-ray (children)
  • abdominal ultrasound (children)
  • fluorodeoxyglucose positron emission tomography (FDG-PET) (adults)
  • MRI head with contrast (adults)
  • tissue biopsy
More 1st investigations to order

Investigations to consider

  • endocrine evaluation (children)
  • coagulation studies
  • pulmonary function tests
  • high-resolution CT chest
  • audiometry
  • bone marrow aspirate and biopsy
  • MRI head with contrast (children)
  • MRI spine
  • CT head
More investigations to consider

Treatment algorithm

ACUTE

single-system disease: bone involvement

single-system disease: skin involvement

single-system disease: isolated lymph node involvement

single-system disease: lung involvement

single-system disease: CNS involvement

single-system disease: neurodegenerative disease

multi-system disease

ONGOING

relapsed/refractory disease

Contributors

Authors

Gaurav Goyal, MD

Assistant Professor of Medicine

University of Alabama at Birmingham

Department of Medicine

Division of Hematology/Oncology

Birmingham

AL

Disclosures

GG is an author of a number of references cited in this topic.

Acknowledgements

Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.

Disclosures

OA declares that he has no competing interests. KS declares that he serves on the Board of the Histiocytosis Association (a nonprofit organization), has provided advice for a legal firm reviewing a case of LCH, and receives honoraria for membership of advisory boards to Pfizer and Behring.

Peer reviewers

R. Maarten Egeler, MD, PhD

Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases

Leiden University Medical Center

Leiden

The Netherlands

Disclosures

RME has previously worked with Dr Abla on a review of LCH. RME is an author of several references cited in this topic.

Rima Jubran, MD, MPH

Assistant Professor of Pediatrics

Keck School of Medicine

University of Southern California

Children's Hospital Los Angeles

Los Angeles

CA

Disclosures

RJ declares that she has no competing interests.

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