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Incidence of liver abnormalities in Fanconi anemia patients
Author(s) -
MasserotLureau Caroline,
Adoui Nadir,
Degos Françoise,
de Bazelaire Cédric,
Soulier Jean,
Chevret Sylvie,
Socié Gérard,
Leblanc Thierry
Publication year - 2012
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23153
Subject(s) - medicine , gastroenterology , fanconi anemia , magnetic resonance cholangiopancreatography , androgen , incidence (geometry) , pathology , biology , endoscopic retrograde cholangiopancreatography , hormone , physics , optics , dna repair , biochemistry , pancreatitis , gene
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.