Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- Family history
- onset in childhood (MPS, Pompe, Gaucher, Fabry, Niemann-Pick type A)
- onset in adolescence (Fabry, Pompe, Gaucher types 1, 3, mucopolysaccharidosis, Niemann-Pick types B, C)
- onset in adulthood (Fabry, Gaucher type 1, Pompe)
- hepatomegaly and/or splenomegaly
- hyperacusis
- history of renal failure
- skin rash/cutaneous lesions
- large head circumference
- macular "cherry red spot" on ophthalmoscopy
- optic atrophy or retinitis pigmentosa on ophthalmoscopy
- corneal clouding on ophthalmoscopy
- fatigue
Outros fatores diagnósticos
- neurodevelopmental delay
- hearing impairment/sudden deafness
- cataract on ophthalmoscopy
- eye movement disorder
- progressive dementia and ataxia or gait disturbance
- failure to thrive
- joint contracture
- depression
- skeletal abnormalities including spinal gibbus
- hydrocephalus
- history of recurrent respiratory tract infections
- psychosis
- movement disorders
- premature stroke/transient ischemic attack
- cardiomegaly
- valvular cardiac disease
Fatores de risco
- male sex (mucopolysaccharidosis [MPS] II, Fabry disease)
- Ashkenazi ethnicity
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- enzyme assay
- substrate assay
- DNA analysis
- CBC
Investigações a serem consideradas
- ECG
- echocardiogram
- pulmonary function tests
- bone marrow biopsy
- muscle biopsy
- CT/MRI of enlarged organ (Gaucher)
- ultrasound/MRI (Fabry)
- CT/x-ray (mucopolysaccharidosis)
Algoritmo de tratamento
type 1 Gaucher disease
type 2 Gaucher disease
type 3 Gaucher disease
Fabry disease
mucopolysaccharidosis (MPS)
Pompe disease
Tay-Sachs disease
Niemann-Pick disease
Colaboradores
Autores
Atul B. Mehta, MA, MB BChir, MD, FRCP, FRCPath
Consultant Haematologist
Emeritus Professor in Haematology
University College London
London
UK
Declarações
ABM has participated in educational activities for Sanofi Genzyme, Takeda and Amicus including advisory boards for which he has received honoraria and travel grants. He has also received research funding from Sanofi Genzyme, Takeda and Amicus. He is also an author of a number of references cited in this topic.
Revisores
Gregory M. Pastores, MD
Associate Professor
Departments of Neurology and Pediatrics
NYU School of Medicine
New York
NY
Declarações
GMP declares that he has no competing interests.
Uma Ramaswami, MD, FRCPCH
Consultant Paediatrician
Paediatric Metabolic Unit
Cambridge University Hospitals
Cambridge
UK
Declarações
UR has received travel grants, honoraria for lectures, and funding for clinical trials from Shire HGT, Genzyme, and Actelion.
Elmer V. Villanueva, MD, ScM, FRIPH
Associate Professor of Public Health
Director of Research
Gippsland Medical School
Monash University
Churchill
Australia
Declarações
EVV declares that he 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
Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017 Feb 17;18(2):441.Texto completo Resumo
Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Nov 22;5:30.Texto completo Resumo
Patterson MC, Clayton P, Gissen P, et al. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: an update. Neurol Clin Pract. 2017 Dec;7(6):499-511.Texto completo Resumo
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
- Langerhans cell histiocytosis (differential diagnosis of type 2 and 3 Gaucher disease)
- Rheumatic fever (differential diagnosis of Fabry)
- Bacterial endocarditis (differential diagnosis of Fabry)
Mais Diagnósticos diferenciaisDiretrizes
- Cipaglucosidase alfa for treating late onset Pompe disease
- Pegunigalsidase alfa for treating Fabry disease
Mais DiretrizesConectar-se ou assinar para acessar todo o BMJ Best Practice
O uso deste conteúdo está sujeito ao nosso aviso legal