title: Incidence of liver abnormalities in Fanconi anemia patients.
abstract: Patients with Fanconi anemia (FA) are prone to liver tumors, especially after androgen treatment, but other liver abnormalities have not been described for these patients. Here, we systematically reviewed liver manifestations in a cohort of 64 adult and pediatric patients with FA followed in a single center. "Significant biological liver abnormalities(SBLA)" in the absence of any androgen treatment were found in five patients, including two children, belonging to rare FA groups; these two patients presented with a very severe chronic cytolysis pattern which may be classified as a new FA phenotype. Liver radiological abnormalities, which include hepatic tumors (n 5 4), hepatomegaly(n 5 1), hyperechogenicity (n 5 2), and a previously undescribed biliary duct dilatation as demonstrated by magnetic resonance cholangiopancreatography(MRCP) (n 5 2), were found in eight patients who received androgen treatment or who had iron overload. Lastly, we found no correlation between cytolysis intensity and high levels of alpha-fetoprotein (AFP); this common finding in FA patients cannot therefore be explained by hepatocyte regeneration.
authors.affiliation: AP-HP, Service d'Hématologie Pédiatrique, Hôpital Robert-Debré, Paris.
authors.forename: Caroline
authors.initials: C
authors.lastname: Masserot-Lureau
authors.forename: Nadir
authors.initials: N
authors.lastname: Adoui
authors.forename: Françoise
authors.initials: F
authors.lastname: Degos
authors.forename: Cédric
authors.initials: C
authors.lastname: de Bazelaire
authors.forename: Jean
authors.initials: J
authors.lastname: Soulier
authors.forename: Sylvie
authors.initials: S
authors.lastname: Chevret
authors.forename: Gérard
authors.initials: G
authors.lastname: Socié
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
mesh_terms: D000236:Adenoma / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000410:Alanine Transaminase / Q000097:blood; D000728:Androgens / Q000009:adverse effects / Q000627:therapeutic use; D001219:Aspartate Aminotransferases / Q000097:blood; D001706:Biopsy; D006528:Carcinoma, Hepatocellular / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D049448:Cholangiopancreatography, Magnetic Resonance; D005199:Fanconi Anemia / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000473:pathology*; D005234:Fatty Liver / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D022781:Hepatocytes / Q000473:pathology; D006529:Hepatomegaly / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D006801:Humans; D015994:Incidence; D007223:Infant; D019190:Iron Overload / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D008099:Liver / Q000000981:diagnostic imaging / Q000201:enzymology / Q000473:pathology*; D008107:Liver Diseases / Q000097:blood / Q000000981:diagnostic imaging / Q000201:enzymology / Q000209:etiology / Q000473:pathology*; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000209:etiology / Q000473:pathology; D008297:Male; D009765:Obesity / Q000150:complications; D011859:Radiography; D012189:Retrospective Studies; D000509:alpha-Fetoproteins / Q000032:analysis; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: C097353:AFP protein, human; D000728:Androgens; D000509:alpha-Fetoproteins; D005723:gamma-Glutamyltransferase; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase