Fact-sheet: Gaucher disease
Updated on 10/03/2018 at 2:38 PM
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Definition
Gaucher disease: An autosomal recessive disorder (more than 200 mutations) due to a deficiency in the enzyme beta-glucocerebrosidase.
The most common lysosomal storage disease.
As beta-glucocerebrosidase catalyzes the breakdown of glucocerebroside, a complex lipid found in cell membranes, this substrate (derived primarily from red blood cell degradation) accumulates in tissues, resulting in a multisystemic storage disease.
Clinical features
3 phenotypes: Types 2 and 3 are associated with neurologic involvement leading to early death, and type 1, known as "chronic non-neuronopathic":
- Neurologic involvement (pyramidal syndrome, brainstem involvement)
- Skeletal involvement (pain, lytic lesions, osteonecrosis)
- Hepatosplenomegaly, thrombocytopenia, anemia.
Radiography
Imaging workup: Femurs, spine, and symptomatic regions
- Erlenmeyer flask deformity
- Osteopenia
- Cortical thinning or even endosteal scalloping
- Areas of sclerosis
- Localized pseudotumoral lytic foci
- Fracture
MRI
Skeletal involvement:
- Marrow infiltration: T1 and T2 marrow hypointensity, disco-vertebral gradient reversal
- Bone infarct: (=subchondral osteonecrosis) Marrow edema with T2 hyperintensity, subsequently bordered by a hypointense sclerotic rim
- Bone sclerosis: mixed involvement (marrow infiltration and sclerosis - infarct sequelae)
- Erlenmeyer flask deformity: related to bilateral, symmetric bone remodeling, with loss of metaphyseal concavity and abnormal bone widening (femurs and proximal tibiae ++)
- Compression/Fracture
Nuclear medicine
Bone scintigraphy: Useful for diagnosing bone infarcts and focal bone disorders
Management
Imiglucerase infusion
