小结
定义
病史和体格检查
关键诊断因素
- age <15 years
- bone pain and/or swelling
- skin rash
- polyuria and polydipsia
- growth or sexual maturation failure
- vertebra plana
- hepatosplenomegaly
其他诊断因素
- cough, dyspnea
- chest pain
- orbital abnormalities
- jaundice
- ascites
- cytopenias
- fever
- anorexia
- weight loss
- irritability
- ear pain
- ear discharge
- hearing loss
- perforated tympanic membrane
- headache
- neurologic signs
- bloody diarrhea
- oral mucosa lesions
- lymphadenopathy
- thyroid enlargement
危险因素
- smoking
- family history of thyroid disease
- perinatal infections
诊断性检查
首要检查
- CBC
- LFTs
- serum albumin
- renal function
- serum electrolytes
- serum calcium
- inflammatory markers
- endocrine evaluation (adults)
- BRAF V600E mutation analysis
- skeletal survey (children)
- chest x-ray (children)
- abdominal ultrasound (children)
- fluorodeoxyglucose positron emission tomography (FDG-PET) (adults)
- MRI head with contrast (adults)
- tissue biopsy
需考虑的检查
- endocrine evaluation (children)
- coagulation studies (children)
- pulmonary function tests
- echocardiogram
- high-resolution CT chest
- audiometry
- bone marrow aspirate and biopsy
- MRI head with contrast (children)
- MRI spine
- CT head
治疗流程
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
multisystem disease
relapsed/refractory disease
撰稿人
作者
Gaurav Goyal, MD
Assistant Professor of Medicine
University of Alabama at Birmingham
Department of Medicine
Division of Hematology/Oncology
Birmingham
AL
利益声明
GG has been reimbursed for advisory board by Opna Bio LLC, and receives royalties from UpToDate.
鸣谢
Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.
利益声明
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.
同行评议者
R. Maarten Egeler, MD, PhD
Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases
Leiden University Medical Center
Leiden
The Netherlands
利益声明
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
Declarações
RJ declares that she has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
Referências
Principais artigos
Haupt R, Minkov M, Astigarraga I, et al; Euro Histio Network. Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work-up, and treatment for patients till the age of 18 years. Pediatr Blood Cancer. 2013 Feb;60(2):175-84.Texto completo Resumo
Goyal G, Tazi A, Go RS, et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults. Blood. 2022 Apr 28;139(17):2601-21.Texto completo Resumo
Rodriguez-Galindo C, Allen CE. Langerhans cell histiocytosis. Blood. 2020 Apr 16;135(16):1319-31.Texto completo Resumo
National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: histiocytic neoplasms [internet publication].Texto completo
Artigos de referência
Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
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