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Table 4 Imaging modalities relevant to Gaucher disease

From: Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

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