Summary
Definición
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 received research grants in association with Takeda, Sanofi-Genzyme 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.
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 Diretrizes- Conectar-se ou assinar para acessar todo o BMJ Best Practice
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