FRCPath Haem Part 1 MCQs-Gen Haematology 439
- amirhayat2527
- 2 days ago
- 1 min read
A 54-year-old man of Northern European ancestry is referred to the haematology clinic after abnormal liver function tests were identified during an insurance medical examination. He reports progressive fatigue over the last 5 years, reduced libido, and worsening pain affecting the second and third metacarpophalangeal joints bilaterally. His father died from "liver disease" in his sixties.
Investigations demonstrate:
Test | Result |
Hb | 162 g/L |
WBC | 6.4 × 10⁹/L |
Platelets | 220 × 10⁹/L |
Ferritin | 2450 μg/L |
Transferrin saturation | 88% |
CRP | <1 mg/L |
ALT | 78 U/L |
HFE genotyping confirms C282Y homozygosity.
MRI liver demonstrates severe hepatic iron accumulation. He undergoes regular venesection and his ferritin falls to 80 μg/L after 18 months of treatment.
Despite successful iron depletion, which of the following complications is most likely to persist and be largely irreversible?
A. Hypogonadotropic hypogonadism
B. Cardiomyopathy
C. Metacarpophalangeal arthropathy
D. Abnormal liver enzymes
E. Skin pigmentation
Answer
✅ C. Metacarpophalangeal arthropathy
Explanation
This is classic hereditary haemochromatosis (HH):
C282Y homozygous
Ferritin >2000 μg/L
TSat 88%
MCP joint involvement
Hypogonadism
Family history
The question focuses on which complication is least likely to improve after iron removal.
Arthropathy
The characteristic arthropathy of haemochromatosis:
Usually affects 2nd and 3rd MCP joints
Associated with chondrocalcinosis and degenerative changes
Often progresses despite adequate venesection
Considered largely irreversible once established
This is a favourite FRCPath examination point.
Why the other options are incorrect
A. Hypogonadotropic hypogonadism
May improve if diagnosed relatively early after iron removal, although recovery is variable.
B. Cardiomyopathy
Can improve significantly with iron depletion if fibrosis is not advanced.
D. Abnormal liver enzymes
Often improve substantially after venesection.
E.…