Alpha-1 Antitrypsin Deficiency – Board-Style Questions

What this deck covers

alpha-1 antitrypsin deficiency 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. The younger brother’s result
2. A reassuring number
3. Under the microscope
4. Why the liver suffers
5. The other organ
6. Two carriers
7. Nothing in the blood
8. The uncle’s scan
9. Nodules that weep
10. What to expect
11. What protects the chest
12. Weekly infusions
13. A level that changed
14. Heavy, with a single allele
15. What the six-monthly scan seeks
16. Asking for a yearly CT
17. Invited to parties
18. A new injection

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: The same outlook as his sister in every respect, It rises in acute illness, hiding a true shortfall, Copper-laden granules staining with rhodanine, Unopposed elastase digesting the hepatic tissue itself, Neutrophil elastase acting without its inhibitor, Recessively, with carriers entirely silent, The liver, but not the lungs, Centrilobular change in the upper lobes, Necrotising panniculitis, Cirrhosis before school age is the usual course for her, Avoiding contact sports and heavy exercise, They reverse hepatic scarring within a year, Donor hepatocytes now secrete M protein, Established disease needing the same follow-up as ZZ.

Clinical pearls from this deck

• SZ is milder than ZZ, with risk mainly to smokers’ lungs.
• Unwell child, normal level: it can still be ZZ.
• ZZ on biopsy: PAS-positive, diastase-resistant globules.
• Liver harm is gain of function; lung harm is loss.
• Lung damage is unchecked elastase in the alveoli.
• Codominant alleles: MZ parents sit in the middle.

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 Gastroenterology Board Questions case decks · pediatric reference values.