Fanconi Anaemia – Board-Style Questions

What this deck covers

Fanconi Anaemia in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Normal counts as a baby
2. Labelled as immune
3. Completing the baseline
4. An equivocal result
5. After a positive test
6. Through the maternal line
7. A donor for the future
8. The perfect match
9. Bridging the wait
10. Choosing the regimen
11. Which cancer comes first
12. Discharged after cure?
13. Sugar checks
14. A patch on the tongue
15. Lowering his own risk
16. Before the later cancers
17. Beyond the mouth
18. Following the lesion

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: A recent viral infection has damaged his bone marrow, A platelet count that has stayed low for a year, A formal hearing assessment by audiology, Repeat blood testing when she is a teenager, Genetic sequencing to find his causative variants, One in four, as for most forms of the disease, Natural conception, then cord blood banking alone, Nothing more, since her counts are normal, An oral androgen such as oxymetholone or danazol, Proceed as suggested, since full doses lower relapse, Squamous cell carcinoma of the mouth, Yes, as the transplant cured the condition fully, No; a tolerance test finds what fasting misses, Reassure him, as oral cancer is unlikely so young.

Clinical pearls from this deck

• Fanconi anaemia is born with the thumb; the marrow fails later.
• In a ‘chronic ITP’ with big red cells, think of the marrow, not the antibody.
• New Fanconi diagnosis: test the hearing as well as the kidneys and heart.
• Blood can revert, skin does not: test fibroblasts when the blood test hedges.
• Breakage confirms Fanconi anaemia; the gene lets the family act.
• A maternal uncle with Fanconi anaemia: think of FANCB.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all Haematology case decks · pediatric reference values.