title: Acute hepatitis in a child heterozygous for the I259V MEFV gene variant.
abstract: Familial Mediterranean Fever (FMF) is a systemic auto-inflammatory disease characterized by recurrent episodes of fever accompanied by synovial, serosal and/or cutaneous inflammation. Liver involvement has been described mainly in patients with paired FMF gene mutations, i.e. involving both alleles, and rarely in patients heterozygous for FMF mutations. These patients may present with acute or chronic hepatitis, with or without liver failure. Non-alcoholic hepatitis, mild hyperbilirubinemia, and elevation of liver enzymes of unknown etiology should also raise suspicion of FMF. Patients with FMF and liver involvement usually respond to colchicine medication. The mutation I259V (c.775A MEFV gene has not been reported in FMF patients with liver involvement. Furthermore, among several MEFV gene variants, it has been reported so far in only one heterozygous FMF patient of Turkish ancestry presenting with abdominal pain without any hepatic complication. Herein, the second case of a FMF patient heterozygous for the above mentioned mutation is discussed. It is a male child with FMF clinical phenotype which presented two consecutively episodes of acute hepatitis during fever attacks, that spontaneously resolved. Therapeutic trial with colchicine was successful, since no other fever attacks and acute hepatitis episodes were noticed.
authors.affiliation: Third Department of Pediatrics, University of Athens, "Attikon" Hospital, Athens, Greece.
authors.forename: Flora
authors.initials: F
authors.lastname: Tzifi
authors.affiliation: National Amyloidosis Center, Division of Medicine, UCL Medical School, Royal Free Hospital, London, United Kingdom.
authors.forename: Philip
authors.initials: P
authors.lastname: Hawkins
authors.affiliation: Third Department of Pediatrics, University of Athens, "Attikon" Hospital, Athens, Greece.
authors.forename: Erato
authors.initials: E
authors.lastname: Atsali
authors.affiliation: Third Department of Pediatrics, University of Athens, "Attikon" Hospital, Athens, Greece.
authors.forename: Doxa
authors.initials: D
authors.lastname: Kotzia
authors.affiliation: Third Department of Pediatrics, University of Athens, "Attikon" Hospital, Athens, Greece.
authors.forename: Achilleas
authors.initials: A
authors.lastname: Attilakos
mesh_terms: D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics; D006505:Hepatitis / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008297:Male; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin