Patient & Technical Overview

• Study: MRI Whole Abdomen and Pelvis (multiplanar, multisequence)
• Sequences visible: T2-weighted axial, T1-weighted axial (pre- and post-contrast dynamic phases - arterial/portal venous/delayed), coronal T2/SPAIR fat-suppressed, sagittal T2, and likely DWI/ADC
• Films: 6 sheets total covering axial upper abdomen, axial pelvis, coronal abdomen/pelvis, and sagittal pelvis

Key Findings by Region

1. Large Left Upper Quadrant / Splenic Mass (Most Significant Finding)

• There is a massive, heterogeneous, lobulated mass in the left upper quadrant, appearing to arise from or completely replace the spleen
• T2W: Highly heterogeneous - areas of high signal (necrosis/cystic degeneration) mixed with hypointense solid components
• Post-contrast T1W: Peripheral and septal enhancement with large central non-enhancing zones indicating central necrosis/liquefaction
• The mass causes significant mass effect:
  • Displaces the stomach medially/anteriorly
  • Compresses and displaces the left kidney inferiorly
  • Displaces the pancreatic body/tail anteriorly

2. Liver

• Mild to moderate hepatomegaly present
• Multiple hypoenhancing focal lesions scattered through both hepatic lobes on dynamic contrast images - highly suspicious for metastatic deposits
• No obvious intrahepatic biliary dilatation on available views

3. Kidneys

• Right kidney: Normal size, position, and corticomedullary differentiation
• Left kidney: Displaced inferiorly by the overlying splenic mass, upper pole mildly compressed
• Mild fullness of renal pelves may be present secondary to bladder outlet obstruction

4. Retroperitoneal Lymphadenopathy

• Prominent para-aortic and retroperitoneal soft tissue enlargement consistent with lymphadenopathy - suggests regional lymph node involvement (metastatic or lymphomatous)
• Pelvic lymph nodes (iliac chains) also appear enlarged with rounded morphology on T2 sequences

5. Prostate Gland (Pelvis - Films 2, 3, 4)

• Marked prostatomegaly with median lobe hypertrophy projecting into the bladder base
• Heterogeneous signal on T2W images - BPH nodularity present, but ill-defined T2-hypointense areas in the peripheral zone cannot exclude concurrent prostatic carcinoma without dedicated mpMRI/PI-RADS scoring
• The enlarged prostate is suspicious as a potential primary site given the bone marrow changes (see below)

6. Urinary Bladder

• Partially filled; wall thickening and trabeculation consistent with chronic bladder outlet obstruction (detrusor hypertrophy) from prostatic enlargement
• No gross intravesical mass clearly seen

7. Bone Marrow Signal (Pelvis and Lumbar Spine)

• Patchy heterogeneous marrow signal in the pelvic bones (iliac wings, sacrum, pubic symphysis), femoral heads, and lower lumbar vertebrae
• Areas of T2-hypointensity (dark foci) in the marrow are suspicious for osteoblastic metastases - this pattern is classically associated with metastatic prostate carcinoma
• Degenerative osteophytic changes consistent with age are also present

8. Rectum / Bowel

• No gross circumferential rectal wall thickening or exophytic rectal mass
• Sigmoid colon and small bowel loops appear normal in configuration
• No mechanical obstruction identified

9. Ascites

• Mild to moderate free peritoneal fluid (ascites) in perihepatic space and paracolic gutters - seen as T2-bright fluid on axial sequences

Differential Diagnosis

Recommended Next Steps

1. Serum PSA (Prostate-Specific Antigen) - urgent, to evaluate for metastatic prostate cancer
2. Tumor markers: LDH (lymphoma), CEA, CA 19-9, AFP
3. Dedicated prostate mpMRI (DWI + DCE sequences) with formal PI-RADS scoring if prostate cancer is the leading diagnosis
4. Bone scan / PSMA PET-CT - to evaluate extent of bone and nodal metastases
5. Image-guided biopsy - of a liver lesion or accessible node for histopathological confirmation
6. Hematology/oncology referral - for staging workup and treatment planning

Important disclaimer: This interpretation is based on photographic images of printed MRI films and is intended as a clinical aid only. A formal, definitive report must be issued by a qualified radiologist reviewing the original DICOM data on a diagnostic workstation. Clinical correlation with the treating physician is mandatory before any management decisions are made.

Haemochromatosis Assessment - Pronob Kumar Roy

Short Answer: No MRI signs of haemochromatosis are present.

What to Look for on MRI in Haemochromatosis

What the Films Show for This Patient

• The liver parenchyma retains a normal intermediate-to-bright signal on T2W sequences
• It is NOT darker than the paraspinal muscles - the hallmark "black liver" is absent
• No signal void is seen in the hepatic parenchyma

• Maintains normal T2-hyperintense signal (brighter than liver) - no abnormal darkening

• No signal void or abnormal hypointensity suggesting pancreatic iron deposition

Conclusion

Diagnosis of Haemochromatosis

Overview

• Primary (hereditary): Genetic error (HFE gene mutation - most commonly p.Cys282Tyr homozygosity) causing excess GI iron absorption - iron accumulates in hepatocytes
• Secondary (haemosiderosis): From multiple transfusions, cirrhosis, or refractory anaemia - iron accumulates in the RES (Kupffer cells, spleen, bone marrow)

Step-by-Step Diagnostic Approach

Step 1 - Clinical Suspicion

"Bronze Diabetic" = Skin bronzing (pigmentation) + Cirrhosis + Diabetes mellitus

• Arthropathy (MCP joints, index/middle fingers)
• Hypogonadism, cardiac failure, fatigue
• Family history of liver disease

Step 2 - Serum Iron Studies (First-line)

TSAT is the single best screening test - elevated in early disease before ferritin rises significantly.

Step 3 - Genetic Testing (HFE Mutation)

• Test for HFE C282Y and H63D mutations
• C282Y homozygosity (the most common genotype) + abnormal iron studies = diagnosis confirmed without biopsy
• No need for liver biopsy or MRI if C282Y homozygous with consistent iron parameters

Step 4 - MRI (When Needed)

• Best sequence: T2 gradient-echo (GRE)* - most sensitive
• Standard T2W spin-echo also shows changes with significant overload
• Severe overload even affects T1W images
• Quantitative MRI (R2 mapping / FerriScan):* correlates strongly with hepatic iron concentration - allows non-invasive iron quantification

Step 5 - Liver Biopsy (Selective Use)

• No longer routinely required if C282Y homozygous
• Indicated when:
  • Non-HFE genotype with hepatic iron overload on imaging
  • Ferritin >1000 µg/L (to assess for advanced fibrosis/cirrhosis)
  • Histology shows Perls' Prussian blue stain - blue iron deposits in hepatocytes (periportal, zone 1 distribution in primary haemochromatosis)

Step 6 - Assess End-Organ Damage

• Liver: Fibroscan or biopsy for fibrosis staging; if advanced fibrosis → HCC surveillance programme (6-monthly ultrasound + AFP)
• Cardiac: ECG, echocardiogram
• Endocrine: HbA1c, testosterone, thyroid function
• Joints: X-ray hands (MCP joints)

Step 7 - Family Screening

• Serum iron studies (TSAT + ferritin)
• HFE genotyping

Summary Diagnostic Algorithm

Raised TSAT (>45/50%) + Elevated Ferritin
          ↓
     HFE Genotyping
          ↓
C282Y Homozygous? ──YES──→ Diagnosis confirmed
     NO/Compound het.
          ↓
     MRI Liver (R2* mapping)
          ↓
Hepatic iron overload confirmed? ──YES──→ Diagnosis confirmed
          ↓
     Consider liver biopsy (non-HFE genotype)

Treatment Target (per EASL 2022)

• Induction phase: Target ferritin <50 µg/L
• Maintenance phase: Target ferritin <100 µg/L

• Grainger & Allison's Diagnostic Radiology, p. 628
• EASL Clinical Practice Guidelines on Haemochromatosis, J Hepatol 2022

Echocardiographic Findings in Haemochromatosis

Pathophysiology

• Oxidative stress and lipid peroxidation → myocyte damage
• Impaired calcium handling → diastolic then systolic dysfunction
• Myocardial fibrosis → increased wall stiffness
• Conduction system iron deposits → arrhythmias

Echocardiographic Findings by Stage

Stage 1 - Subclinical / Early (Most Treatable)

Key point: Speckle tracking GLS is the most sensitive early echo marker - it detects subclinical myocardial dysfunction even with preserved EF and has been shown to equal or outperform CMR for early functional changes.

Stage 2 - Established Restrictive Pattern

Stage 3 - Dilated Cardiomyopathy Pattern (Late / Advanced)

Comparison: Haemochromatosis vs Other Infiltrative Cardiomyopathies

ECG Correlation (to complement Echo)

• Conduction defects: First-degree AV block, bundle branch blocks, complete heart block
• Supraventricular arrhythmias: AF is common (10-30% of cases)
• Ventricular arrhythmias: PVCs, VT - major cause of sudden death
• Low voltage QRS (when myocardial involvement is severe)
• ST-T changes (non-specific)

Role of Cardiac MRI vs Echo

When to Do Echo in Haemochromatosis

1. At diagnosis - establish baseline cardiac function
2. Before starting phlebotomy - if severe iron overload, rapid phlebotomy can worsen cardiac function transiently
3. Serial monitoring - every 1-2 years (more frequent if cardiac symptoms develop)
4. After adequate treatment - cardiac function can partially or fully recover with early phlebotomy/chelation therapy, which is a distinguishing feature from most other causes of cardiomyopathy

Important note: Cardiac involvement in haemochromatosis is often asymptomatic until late. When symptomatic heart failure develops, median survival without treatment is under 1 year. Early echo screening is therefore clinically critical.

• Grainger & Allison's Diagnostic Radiology, p. 323
• Cardiac Manifestations of Hemochromatosis - Gera et al., Cardiol Rev 2024 [PMID: 39145627]
• Echocardiography for Iron Overload Cardiomyopathy - Zimmerman et al., J Echocardiogr 2021 [PMID: 33772457]