Langerhans cell histiocytosis
Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- age <15 years
- bone pain and/or swelling
- skin rash
- polyuria and polydipsia
- growth or sexual maturation failure
- vertebra plana
- hepatosplenomegaly
Outros fatores diagnósticos
- 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
Fatores de risco
- smoking
- family history of thyroid disease
- perinatal infections
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- 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
Investigações a serem consideradas
- 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
Algoritmo de tratamento
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
Colaboradores
Autores
Gaurav Goyal, MD
Assistant Professor of Medicine
University of Alabama at Birmingham
Department of Medicine
Division of Hematology/Oncology
Birmingham
AL
Declarações
GG has been reimbursed for advisory board by Opna Bio LLC, and receives royalties from UpToDate.
Agradecimentos
Dr Gaurav Goyal would like to gratefully acknowledge Dr Oussama Abla and Professor Kimo Stine, previous contributors to this topic.
Declarações
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.
Revisores
R. Maarten Egeler, MD, PhD
Director of Pediatric Immunology, Hematology, Oncology, Bone Marrow Transplantation, and Autoimmune Diseases
Leiden University Medical Center
Leiden
The Netherlands
Declarações
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.
Créditos aos pareceristas
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Declarações
As afiliações e declarações dos pareceristas referem--se ao momento da revisão.
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.
Diagnósticos diferenciais
- Seborrheic dermatitis
- Juvenile xanthogranuloma (JXG)
- Rosai-Dorfman disease (RDD)
Mais Diagnósticos diferenciaisDiretrizes
- Clinical practice guidelines in oncology: histiocytic neoplasms
- International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults
Mais Diretrizes
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