Unpacking Rare Lung Diseases: Alpha-1 Antitrypsin Deficiency: Deep Dive 1

In the first episode of our Rare Lung Diseases podcast series, host Saranya Ravindran speaks with James Stoller, Chief of Education and Pulmonary Physician at Cleveland Clinic, about Alpha-1 antitrypsin deficiency, a rare genetic condition that is frequently underdiagnosed. The discussion explores the complexities of Alpha 1, including current challenges in detection, advances in diagnosis and management, and what the future may hold for improving care.

Timestamps

00:56 – What is Alpha-1 antitrypsin deficiency?

01:45 – Mechanism of this genetic disorder

03:12 – What makes Alpha 1 so hard to spot?

04:30 – Genetic complexities of Alpha 1

06:00 – Risk factors