Imaging modality | Gaucher disease manifestations | Advantages | Limitations |
---|---|---|---|
Magnetic resonance imaging without intravenous contrast | Abdominal: organ enlargement, heterogeneous parenchymal signal, hepatic and splenic lesions, decreased ADC in affected organs Musculoskeletal: abnormal marrow signal, avascular necrosis, fracture, vertebral height loss | Offers both qualitative and quantitative multisystem assessment including treatment response Non-invasive, no ionizing radiation Reproducible | Expense Contraindications in selected individuals Sedation requirement for certain patients |
Quantitative chemical-shift imaging (QCSI), lumbar spine and proximal femurs | Abdominal and skeletal: decreased fat-fractions | Accurate, reproducible Validated in several studies to correlate with biomarkers and respond to treatment | Availability, technical expertise Expense Cannot be measured in areas of osteonecrosis or vertebral collapse |
Magnetic resonance spectroscopy | Abdominal and skeletal: decreased fat-fractions | Accurate, reproducible More reliable at lower fat-fractions than chemical-shift imaging | Limited validation Availability, technical expertise Expense Acquisition time |
Magnetic resonance elastography | Abdominal: increased liver and spleen stiffness values | Non-invasive, no ionizing radiation May be obtained in conjunction with other MRI evaluations | Availability Expense Less well-validated |
Magnetic resonance imaging with hepatocyte-specific intravenous contrast | Abdominal: organ enlargement, heterogeneous parenchymal signal, hepatic and splenic lesions | Gold-standard for liver lesion characterization Non-invasive, no ionizing radiation Reproducible | Expense Contrast administration-related issues Low-yield in the absence of previously identified suspicious or indeterminate lesion May not avoid need for confirmatory biopsy in Gaucher disease to overlap between liver involvement and suspicious imaging features |
DXA | Osteopenia consistent with worsening marrow infiltration | Osteopenia indicates worsening skeletal involvement and may predict pathologic fracture risk Nominal ionizing radiation exposure | Unreliable in sites of osteonecrosis and compression deformity Normative values unreliable below 6 years of age Low-yield in younger children at lower risk of fracture Predictive value of BMD to predict fracture risk in children is undefined |
Computed tomography with intravenous contrast | Abdominal: organ enlargement, heterogeneous parenchymal attenuation, hepatic and splenic lesions | Availability Satisfactory identification of lesions | Incomplete characterization of focal lesions Ionizing radiation exposure (may be optimized for dose reduction) |
Ultrasound, abdomen | Abdominal: organ enlargement, heterogeneous hepatic echotexture, hepatic and splenic lesions | Accessible, affordable Non-invasive, no ionizing radiation equivalent to CT for screening for liver complications | Operator dependent, protocols sometimes rely on single operator Overlap of benign and malignant focal lesion characteristics requiring additional workup Less sensitive than MRI for comprehensive assessment of organ involvement Disagreement with volumes obtained on other modalities |
Chest CT | Interstitial and bronchial wall thickening, groundglass and centrilobular nodular opacities | Accurately depicts pulmonary involvement in patients with symptoms | Pulmonary involvement is rare Findings often nonspecific Ionizing radiation exposure |
99 m-Tc-Sestamibi scintigraphy | Increased uptake at distal femoral and proximal tibial epiphyses | Semi-quantitative method May correspond with treatment response Availability | Ionizing radiation exposure Poor spatial resolution Limited validation data Low specificity |
99 m-Tc-MDP scintigraphy | Decreased uptake at sites of bone crises | May potentially differentiate between bone crises and osteomyelitis | Not well-validated Ionizing radiation exposure Availability Expense Poor spatial resolution Not specific |
Echocardiography and cardiac MRI | Pulmonary hypertension (mostly adults on treatment) Valvular calcifications (D409H homozygous mutation) | Non-invasive, no ionizing radiation Definitive investigations for cardiac involvement | Low-yield in pediatric population Expense Limited data to support widespread use, particularly for cardiac MRI |
Acoustic radiation force impulse/shear wave elastography (US) | Increased liver and spleen stiffness values | Similar or higher performance compared with transient elastography Non-invasive, no ionizing radiation May be combined with conventional US evaluation of organ involvement No sedation | Availability Measurement variability |
Transient elastography | Increased liver and spleen stiffness values | Non-invasive, no ionizing radiation Expense | No imaging guidance to assess most affected regions of organs No imaging component for further characterization of organ parenchyma quality or lesions |