Alpha-1 antitrypsin deficiency

A 55-year-old woman with a history of alpha-1 antitrypsin deficiency presents with worsening dyspnoea and abdominal discomfort. She has been on augmentation therapy for the past 5 years. On examination, she has mild jaundice and hepatomegaly. Her liver function tests reveal elevated bilirubin, ALT, and AST levels. Ultrasound of the abdomen shows signs of cirrhosis.

What is the most likely cause of her current symptoms?

A 30-year-old man has been newly diagnosed with alpha-1 antitrypsin deficiency after presenting with dyspnoea and being found to have moderate airflow obstruction on spirometry. He is concerned about the implications for his family and future children. He has no siblings, and his parents are healthy.

What advice should be given regarding genetic counseling and testing for his family?

A 42-year-old woman presents with progressive dyspnea and has been diagnosed with early-onset emphysema. She is a non-smoker and has a family history of lung disease. Her physician suspects Alpha-1 Antitrypsin Deficiency (AATD) and orders the relevant tests.

Which of the following findings would confirm the diagnosis of Alpha-1 Antitrypsin Deficiency (AATD)?

A 55-year-old man with Alpha-1 Antitrypsin Deficiency (AATD) and severe emphysema is being managed with bronchodilators and regular follow-up. He is a non-smoker but continues to experience frequent exacerbations of his symptoms.

What additional therapy should be considered to reduce the frequency of exacerbations and slow disease progression?

A 45-year-old non-smoker presents with progressive shortness of breath and a chronic cough over the past year. He has no significant past medical history and no known exposure to respiratory irritants. On examination, his vital signs are normal, but there are diminished breath sounds and occasional wheezes bilaterally. Spirometry reveals an FEV1/FVC ratio of 60% and an FEV1 of 55% predicted. A chest X-ray shows hyperinflation but no obvious infiltrates or masses.

What is the most appropriate next step in the diagnostic evaluation of this patient?