What imaging scans are recommended for patients with hemochromatosis (iron overload disorder)?

Imaging Recommendations for Hemochromatosis Patients

MRI should be used to quantify hepatic iron concentrations and assess extrahepatic organ involvement in patients with hemochromatosis, particularly when there is unclear hyperferritinemia, biochemical iron overload, or positive liver iron staining. 1

Core MRI Imaging Strategy

Hepatic MRI for Iron Quantification

• MRI is the primary imaging modality for non-invasive detection and quantification of liver iron content, using R2* sequences which are the best validated method for hepatic iron assessment 1
• MRI can quantify iron distribution across multiple organs including liver, spleen, pancreas, heart, and brain 1
• Hepatic MRI R2* quantification serves as a surrogate for total body iron stores and predicts the number of phlebotomies required for treatment 1
• In patients homozygous for p.C282Y with elevated transferrin saturation and ferritin without additional risk factors, MRI is not required for diagnosis but enables determination of iron overload degree, which predicts organ damage 1

Cardiac MRI Indications

• Cardiac MRI should be performed in patients with severe hemochromatosis who have signs or symptoms of heart disease (conduction disease and/or contractile dysfunction) for iron quantification without delaying treatment 1
• All patients with juvenile hemochromatosis must be investigated for cardiac involvement, including myocardial iron quantification by MRI 1
• Patients with severe iron overload should first be evaluated with ECG and echocardiography for arrhythmia and cardiac dysfunction 1

Brain MRI for Specific Conditions

• In patients with suspected aceruloplasminemia, MRI of the brain provides important additional diagnostic information 1

Fibrosis Assessment (Non-Iron Imaging)

Transient Elastography

• All patients with hemochromatosis should be non-invasively assessed for liver fibrosis at diagnosis to guide treatment and follow-up 1
• Transient elastography can rule out advanced fibrosis when liver stiffness is <6.4 kPa 1

When Liver Biopsy May Be Considered

• Liver biopsy can be performed to assess liver fibrosis if serum ferritin is higher than 1,000 μg/L or if liver enzymes are increased 1
• Liver biopsy is NOT recommended for diagnosing hepatic iron overload itself, as MRI has replaced this indication 1

Hepatocellular Carcinoma Surveillance

Ultrasound-Based Screening

• Patients with hemochromatosis and cirrhosis should undergo HCC screening with abdominal ultrasound every 6 months, regardless of iron depletion status 1
• HCC screening every 6 months can be performed in patients with advanced fibrosis (METAVIR F3; Ishak stages 4-5) 1
• When ultrasound evaluation is technically suboptimal, HCC surveillance should be performed by MRI or CT 1
• Imaging-based surveillance can be combined with serum alpha-fetoprotein (AFP) every 6 months 1

Clinical Context for MRI Utilization

When MRI is Most Critical

• In patients without p.C282Y homozygosity and/or with additional risk factors (metabolic syndrome, chronic alcohol excess), non-invasive quantification of liver, spleen, pancreas, and cardiac iron guides diagnosis and management 1
• MRI helps differentiate hemochromatosis patterns (predominant hepatic with minimal spleen iron) from other conditions like ferroportin disease or transfusional iron overload (increased spleen iron) 1

Cost and Accessibility Considerations

• While MRI can be associated with high cost and limited accessibility, validated software for hepatic iron quantification is freely available 1
• The ability to avoid repeated liver biopsies and predict treatment requirements justifies MRI utilization 2, 3

Common Pitfalls to Avoid

• Do not rely solely on serum iron parameters (transferrin saturation and ferritin) to assess tissue iron overload, as these are surrogates and can be elevated by inflammation, neoplasia, or alcohol consumption 1
• Do not perform liver biopsy primarily for iron quantification when MRI is available, as MRI is more sensitive, specific, and non-invasive 1, 3
• In patients with low-risk features (ferritin <1,000 μg/L, normal transaminases, no liver enlargement), the risk of advanced liver fibrosis is very low, and extensive imaging may not be immediately necessary 1