Appropriateness of newborn screening for α1-antitrypsin deficiency

Jeffrey Teckman, Erin Pardee, R. Rodney Howell, David Mannino, Richard R. Sharp, Mark Brantly, Adam Wanner, Jamie Lamson

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


OBJECTIVE: The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS: A review of natural history and technical data was conducted. RESULTS: Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in 2000 to 3500 births; however, it is underrecognized and most patients are undiagnosed. AAT deficiency can cause chronic liver disease, cirrhosis, and liver failure in children and adults, and lung disease in adults. The clinical course is highly variable. Some neonates present with cholestatic hepatitis and some children require liver transplantation, but many patients remain well into adulthood. Some adults develop emphysema. There is no treatment for AAT liver disease, other than supportive care and liver transplant. There are no data on the effect of early diagnosis on liver disease. Avoidance of smoking is of proven benefit to reduce future lung disease, as is protein replacement therapy. Justifying newborn screening with the aim of reducing smoking and reducing adult lung disease-years in the future would be a significant paradigm shift for the screening field. Recent passage of the Genetic Information Nondiscrimination Act (GINA) and the Affordable Care Act may have a major effect on reducing the psychosocial and financial risks of newborn screening because many asymptomatic children would be identified. Data on the risk-benefit ratio of screening in the new legal climate are lacking. CONCLUSIONS: Workshop participants recommended a series of pilot studies focused on generating new data on the risks and benefits of newborn screening.

Original languageEnglish (US)
Pages (from-to)199-203
Number of pages5
JournalJournal of pediatric gastroenterology and nutrition
Issue number2
StatePublished - Feb 2014


  • genetic disease
  • hepatitis
  • liver disease
  • pediatrics
  • smoking

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology


Dive into the research topics of 'Appropriateness of newborn screening for α1-antitrypsin deficiency'. Together they form a unique fingerprint.

Cite this