title: Heterozygous α1‑antitrypsin deficiency in liver transplant candidates.
abstract: BACKGROUND
  It is estimated that in about 1% of all liver transplant candidates liver cirrhosis is caused by hereditary homozygous α1‑antitrypsin (AAT) deficiency.
  
  
  OBJECTIVE
  The aim of the study was to evaluate the role of heterozygous AAT deficiency in the development of liver cirrhosis leading to liver transplantation.
  
  
  METHODS
  In the years 2009-2011, we conducted a prospective study of 304 consecutive patients (men, 57%) scheduled for orthotopic liver transplantation. AAT phenotyping and the clinical assessment of hepatic and cardiopulmonary functions were performed in all subjects.
  
  
  RESULTS
  The most common causes of liver cirrhosis were viral hepatitis (21%) and alcohol abuse (12%). Normal protease inhibitor (Pi) MM phenotype was observed in 284 patients. The PiMZ phenotype was detected in 11 subjects (4%), which indicates its higher prevalence in patients with liver cirrhosis compared with the general population (2%). PiMS phenotype was found in 6 patients (2%), and this value was similar to that observed in the Polish population. In 3 patients, less common phenotypes were observed: MP, IM, and MX.
  
  
  CONCLUSIONS
  The PiMZ phenotype may be an independent risk factor for the development of liver cirrhosis along with the most common causes, namely, viral hepatitis and alcohol abuse.
authors.affiliation: Department of Internal Medicine, Pneumonology and Allergology, Medical University of Warsaw, Warszawa, Poland. drkpgorska@gmail.com
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Górska
authors.forename: Piotr
authors.initials: P
authors.lastname: Korczyński
authors.forename: Radosław
authors.initials: R
authors.lastname: Struniawski
authors.forename: Rafał
authors.initials: R
authors.lastname: Krenke
authors.forename: Urszula
authors.initials: U
authors.lastname: Ołdakowska-Jedynak
authors.forename: Elżbieta M
authors.initials: EM
authors.lastname: Grabczak
authors.forename: Joanna
authors.initials: J
authors.lastname: Klimiuk
authors.forename: Joanna
authors.initials: J
authors.lastname: Chorostowska-Wynimko
authors.forename: Ryszarda
authors.initials: R
authors.lastname: Chazan
authors.forename: Jan
authors.initials: J
authors.lastname: Zieliński
authors.forename: Marek
authors.initials: M
authors.lastname: Krawczyk
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000437:Alcoholism / Q000453:epidemiology*; D015415:Biomarkers / Q000097:blood; D015984:Causality; D015897:Comorbidity; D005260:Female; D006525:Hepatitis, Viral, Human / Q000453:epidemiology*; D006579:Heterozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000453:epidemiology* / Q000628:therapy*; D016031:Liver Transplantation; D008297:Male; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors; D055815:Young Adult; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D015415:Biomarkers