QuestionSBA
QuestionChoice
This answer is incorrect. COPD alone does not explain the deranged LFTs in this patient. COPD changes can occur early in patients with alpha-1 antitrypsin deficiency.
10007414
d
Chronic obstructive pulmonary disease
QuestionChoice
This answer is incorrect. Wilson's disease is a genetic condition inherited in an autosomal recessive manner where there is abnormal accumulation of copper in tissues. It presents with Parkinsonian symptoms and psychological abnormalities. Early onset emphysema and liver cirrhosis is characteristic of alpha-1 antitrypsin deficiency.
10007412
b
Wilson's disease
QuestionChoice
This answer is correct. A1AT deficiency is inherited in an autosomal dominant fashion and affects the lungs (causing emphysema) and liver (causing cirrhosis) at an early age.
10007411
a
Alpha-1 antitrypsin (A1AT) deficiency
QuestionChoice
This answer is incorrect. Budd-Chiari syndrome is a condition affecting the liver where there is hepatic vein obstruction. It would not explain the respiratory symptoms in this patient.
10007415
e
Budd-Chiari Syndrome
QuestionChoice
This answer is incorrect. Hereditary haemochromatosis is a condition where there is an abnormal accumulation of iron in body tissues, affecting the heart, liver, and pancreas. It most commonly presents with joint pain, hyperpigmented skin, fatigue, and weight loss. Early onset emphysema and liver cirrhosis are characteristic of alpha-1 antitrypsin deficiency.
10007413
c
Hereditary haemochromatosis
Concept
Chapter
2693
4593
Alpha-1 Antitrypsin Deficiency
Topic
136
Gastroenterology
14029
A 32-year-old woman attends her GP following spirometry and is newly diagnosed with emphysema. On further questioning, it is revealed that her father has COPD and was diagnosed with cirrhosis in his teens for which he received a liver transplant.

Routine bloods show deranged LFTs.

The GP suspects an underlying genetic disease as the cause of her symptoms.

Which of the following is the most likely diagnosis?
a