title: Hepatic abnormalities in patients with chronic granulomatous disease.
abstract: Chronic granulomatous disease (CGD) is a rare congenital disorder characterized by repeated bacterial and fungal infections. Aside from a high incidence of liver abscess, little is known about hepatic involvement in CGD. The aim of this study was to describe the spectrum of liver abnormalities seen in CGD. The charts of 194 patients with CGD followed at the NIH were reviewed, with a focus on liver abnormalities. Liver enzyme elevations occurred on at least one occasion in 73% of patients during a mean of 8.9 years of follow-up. ALT elevations were generally transient. Although transient alkaline phosphatase (ALP) elevations were also common, persistent ALP elevations lasting up to 17.6 years were seen in 25% of patients. Liver abscess occurred in 35% of patients. Drug-induced hepatotoxicity was documented in 15% of patients but likely occurred more frequently. Hepatomegaly was found in 34% and splenomegaly in 56% of patients. Liver histology showed granulomata in 75% and lobular hepatitis in 90% of specimens. Venopathy of the portal vein was common (80%) and associated with splenomegaly. Venopathy of the central vein was also common (63%) and was associated with the number of abscess episodes. Nodular regenerative hyperplasia (NRH) was seen in 9 patients, including 6 of 12 autopsy specimens.
  
  
  CONCLUSIONS
  Liver enzyme abnormalities occur frequently in patients with CGD. In addition to liver abscesses and granulomata, drug hepatotoxicity is likely underappreciated. Vascular lesions such as venopathy and--to a lesser extent--NRH are common. The cause and clinical consequences of venopathy await prospective evaluation.
authors.affiliation: Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, Bethesda, MD 20892-1800, USA.
authors.forename: Nadeem
authors.initials: N
authors.lastname: Hussain
authors.forename: Jordan J
authors.initials: JJ
authors.lastname: Feld
authors.forename: David E
authors.initials: DE
authors.lastname: Kleiner
authors.forename: Jay H
authors.initials: JH
authors.lastname: Hoofnagle
authors.forename: Reyes
authors.initials: R
authors.lastname: Garcia-Eulate
authors.forename: Sushil
authors.initials: S
authors.lastname: Ahlawat
authors.forename: Deloris E
authors.initials: DE
authors.lastname: Koziel
authors.forename: Victoria
authors.initials: V
authors.lastname: Anderson
authors.forename: Dianne
authors.initials: D
authors.lastname: Hilligoss
authors.forename: Peter
authors.initials: P
authors.lastname: Choyke
authors.forename: John I
authors.initials: JI
authors.lastname: Gallin
authors.forename: T Jake
authors.initials: TJ
authors.lastname: Liang
authors.forename: Harry L
authors.initials: HL
authors.lastname: Malech
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
authors.forename: Theo
authors.initials: T
authors.lastname: Heller
mesh_terms: D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000378:metabolism; D000469:Alkaline Phosphatase / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000150:complications*; D006801:Humans; D007223:Infant; D008099:Liver / Q000098:blood supply / Q000201:enzymology* / Q000473:pathology; D008107:Liver Diseases / Q000209:etiology* / Q000473:pathology*; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D011169:Portal Vein / Q000473:pathology; D012189:Retrospective Studies
chemical_list: D000410:Alanine Transaminase; D000469:Alkaline Phosphatase