Progression of liver disease in newly diagnosed patients with alpha-1 antitrypsin deficiency and PiZZ genotype

June 22 2022

Conclusions: Disease progression was characterized and examined in 316 patients with AATD-PiZZ-LD, one of the largest AATD-LD cohorts defined in a real-world setting. • In patients with an LD diagnosis before AATD, the average time to receive an AATD diagnosis was 4.7 years, demonstrating the widespread delayed diagnosis of AATD. • Approximately one-third of patients with AATD-LD-PiZZ and fibrosis stage F3 at baseline progressed to F4 or had LD events within 2 years. More than 75% of patients with fibrosis stage F4cc at baseline had LD events within 1 year. • This study shows that a considerable percentage of patients with fibrosis stage F3 progress to F4cc/F4dc within 2 years, highlighting the need for early diagnosis.


Tiffany Wu, May Hagiwara, Esteban Gnass, Will Treem, Kaili Ren, Ed G. Marins, Chitra Karki, Harmeet Malhi

Division of Gastroenterology and Hepatology, Mayo Clinic, Minnesota, USA Takeda Development Center Americas, Inc., Massachusetts, USA nference, Massachusetts, USA Presenting author: Ed G. Marins.


Mayo Clinic


Correspondence to:

Harmeet Malhi (