Abstract
Alpha1 antitrypsin deficiency (AATD) is one of the most common genetic disorders leading to death worldwide. Although it can affect multiple organs, lung disease and liver involvement constitute the major causes of lethality.
AATD-related liver disease displays a biphasic pattern with the first peak in an early childhood and the second, adult peak after the age of 40. Our understanding of the pediatric liver disease stems primarily from a large Swedish prospective cohort of 176 individuals with AATD, who were identified by the screening of 200 000 infants.
While this cohort defined the natural course of the disease and demonstrated the presence of a potentially life-threatening liver impairment in <10% in patients with severe AATD, the factors responsible for the development of a severe hepatic dysfunction in a small subset of affected children remain unknown. To solve this mystery, a systematic clinical evaluation of AATD children is urgently needed.
In that respect, the article from Ruiz et al, describing a large, multi-centre French cohort of pediatric AATD cases, represents an important and badly needed step in the right direction.