On this page
Study tools
Write your answer
Saved on this device. No marking — you are the marker.
Q1: Pathophysiology (2 min)
Explain the hepcidin–ferroportin axis. How does HFE C282Y mutation cause iron overload, how much extra iron is absorbed per day, and why is parenchymal (rather than macrophage) iron the dominant pool in Type 1 disease?
Q2: Diagnosis and investigations (3 min)
Which two screening tests trigger HFE testing, and what thresholds? How does HFE genotyping confirm Type 1 disease, and when is liver biopsy still required? What is the hepatic iron index and its threshold? Describe the role of MRI T2-star and FerriScan.
Q3: Management (3 min)
Walk me through a venesection protocol — unit volume, frequency, monitoring, target ferritin, maintenance schedule. Name the three iron chelators with doses and one key toxicity each. When do you choose chelation over venesection, and what lifestyle advice do you give?
Q4: Subtypes (2 min)
Contrast Type 4 ferroportin disease with HFE disease in terms of inheritance, iron distribution, transferrin saturation and response to venesection. Describe juvenile (Type 2) HH and its leading cause of death. What is aceruloplasminemia?
Q5: Complications, prognosis and family screening (2 min)
What is the hepatocellular carcinoma risk and what surveillance is required? Which complications are reversible versus irreversible after treatment? What is the prognosis if treated before cirrhosis? Outline screening of first-degree relatives.