α1-antitrypsin deficiency-associated liver disease progresses slowly in some children

D. Volpert, Jean Molleston, D. H. Perlmutter

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Background: A prospective nationwide screening study initiated more than 20 years ago in Sweden has shown that clinically significant liver disease develops in only 10% to 15% of α1-antitrypsin (AT)-deficient children. This study provides information about 85% to 90% of those children, many of whom had elevated serum transaminases in infancy but have no evidence of liver injury by age 18 years. However, there is relatively limited information about the course of α1-AT-deficient children who have cirrhosis or portal hypertension. Based on several anecdotal experiences, we have been impressed by the relatively slow progression and stable course of the liver disease in some of these children. Methods: We reviewed the course of patients with homozygous PIZZ α1-antitrypsin deficiency seen at this institution since establishing a patient database 16 years ago. Results: Of 44 patients with α1-AT deficiency, 17 had cirrhosis, portal hypertension, or both. Nine of the 17 patients with cirrhosis or portal hypertension had a prolonged, relatively uneventful course for at least 4 years after the diagnosis of cirrhosis or portal hypertension. Two of these patients eventually underwent liver transplantation, but seven are leading relatively healthy lives for up to 23 years while carrying a diagnosis of severe α1-AT deficiency-associated liver disease. Patients with the prolonged stable course could be distinguished from those with a rapidly progressive course on the basis of overall life functioning but not on the basis of any other more conventional clinical or biochemical criteria. Conclusions: These data provide further evidence for the variable severity of liver disease associated with α1-AT deficiency and indicate that some patients have chronic, slowly progressing or nonprogressing cirrhosis. (C) 2000 Lippincott Williams and Wilkins, Inc.

Original languageEnglish (US)
Pages (from-to)258-263
Number of pages6
JournalJournal of Pediatric Gastroenterology and Nutrition
Volume31
Issue number3
DOIs
StatePublished - 2000
Externally publishedYes

Fingerprint

liver diseases
Liver Diseases
portal hypertension
Portal Hypertension
Fibrosis
liver transplant
transaminases
infancy
Transaminases
Sweden
Liver Transplantation
Databases
screening
liver
Liver
Wounds and Injuries
Serum

Keywords

  • Cirrhosis
  • Pediatric liver disease
  • Portal hypertension

ASJC Scopus subject areas

  • Gastroenterology
  • Histology
  • Medicine (miscellaneous)
  • Food Science
  • Pediatrics, Perinatology, and Child Health

Cite this

α1-antitrypsin deficiency-associated liver disease progresses slowly in some children. / Volpert, D.; Molleston, Jean; Perlmutter, D. H.

In: Journal of Pediatric Gastroenterology and Nutrition, Vol. 31, No. 3, 2000, p. 258-263.

Research output: Contribution to journalArticle

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