FRCPath Haem Part 1 MCQs-General Haem 473
Updated: Aug 15
A 52-year-old man is referred to the haematology clinic following investigation of persistently abnormal iron studies identified during a routine medical assessment. He reports increasing fatigue but has no abdominal pain, jaundice, pruritus or weight loss. He drinks approximately 8–10 units of alcohol per week. There is no history of viral hepatitis, blood transfusion or chronic liver disease.
His initial investigations are:
Hb: 154 g/L
ALT: 48 U/L (ULN 40)
ALP: 92 U/L
Bilirubin: 14 µmol/L
Albumin: 44 g/L
Platelets: 238 × 10⁹/L
Ferritin: 1,280 µg/L
Transferrin saturation: 78%
Genetic testing demonstrates C282Y homozygosity. Clinical examination reveals no hepatomegaly, splenomegaly, ascites, jaundice or other stigmata of chronic liver disease.
He asks whether genetic confirmation means that he can simply start venesection without any further assessment.
What is the most appropriate next step?
A. Reassure him that no further investigation is required because his examination is normal and commence venesection
B. Arrange liver biopsy in all C282Y homozygous patients before starting venesection
C. Refer him to hepatology for assessment of hepatic fibrosis/cirrhosis
D. Repeat ferritin and transferrin saturation in 12 months before making a referral
E. Request HFE genetic testing in his first-degree relatives and defer any assessment of liver fibrosis until the family results are available
Correct answer: C. Refer him to hepatology for assessment of hepatic fibrosis/cirrhosis
Explanation
This patient has biochemical iron overload with C282Y homozygosity, but the key finding determining further management is his ferritin >1,000 µg/L, together with an abnormal ALT.
In C282Y homozygous hereditary haemochromatosis, the ferritin concentration is important not only as a marker of iron loading but also because ferritin >1,000 µg/L is associated with a substantially increased risk of advanced hepatic fibrosis and cirrhosis.
Therefore, patients with:
Ferritin >1,000 µg/L, or
Abnormal liver function tests
should undergo assessment for hepatic fibrosis/cirrhosis, generally through hepatology assessment and appropriate non-invasive fibrosis assessment ± further investigation as clinically indicated.
The fact that the patient has no hepatomegaly, splenomegaly, ascites or other…