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

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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.

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