Internal Medicine

P1: SBT

0521779407-03 CUNY1086/Karliner 0 521 77940 7 June 7, 2007 19:6

100 Alpha-1-Antitrypsin

Alpha-1-Antitrypsin..................................

ERIC LEONG, MD, FRCPC

history & physical

Symptoms and Signs

■Neonates: jaundice at 1–2 months of age; hepatomegaly

■Infants: may present with symptoms and signs of chronic liver

failure; fewer patients present with acute liver failure; a few present

with cholestasis

■Children & adolescents: may present with liver failure

■Adults: may present with symptoms and signs of chronic hepatitis,

cirrhosis, portal hypertension, HCC, or emphysema

tests

Basic Tests: Blood

■Liver biochemistry: ALT, AST, and GGT elevated in half of infants

with homozygous deficiency & in up to 10% of young adults

■Serum alpha-1-AT concentration: often low; can be misleading due

to elevation in setting of inflammation

Specific Diagnostic Test

■Serum alpha-1-AT phenotype: PiMM phenotype present in 90–95%

of population associated with normal serum alpha-1-AT level; PiZZ

phenotype associated with severe alpha-1-AT deficiency and poten-

tial development of pulmonary emphysema or liver disease; PiMZ

and PiSZ associated with intermediate deficiency

Imaging

■Abdominal sonogram or CT scan: nondiagnostic

■Chest roentgenogram: emphysematous changes

Liver Biopsy

■Accumulation of eosinophilic, periodic acid-Schiff-positive, dias-

tase-resistant globules in endoplasmic reticulum of periportal hep-

atocytes

differential diagnosis

■Viral hepatitis, biliary atresia in neonates & infants, cystic fibrosis,

autoimmune hepatitis, Wilson’s disease, Gaucher’s disease, glycogen

storage diseases