title: Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
abstract: BACKGROUND
  MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patients with MYH9-RD we noticed several cases with unexplained elevation of liver enzymes. Our aim was to evaluate if the alteration of liver tests is a feature of the MYH9-RD and to define its clinical significance.
  
  
  RESULTS
  Data concerning liver tests, prospectively recorded in the Italian Registry for MYH9-RD, were collected and compared with those of three control populations: patients with autoimmune thrombocytopenia, patients with inherited thrombocytopenias other than MYH9-RD, and the participants to a large epidemiologic survey in an Italian geographic isolate. Thirty-eight of 75 evaluable MYH9-RD patients (50.7%) showed an elevation of ALT and/or AST, and 17 of 63 (27.0%) an increase of GGT. The increases ranged from 1.9 ± 0.7 to 2.7 ± 1.6 fold the upper normal limit. The prevalence of liver test alterations was significantly higher in MYH9-RD patients than in each of the control populations, with odds ratios ranging from 8.2 (95% CIs 2.2-44.8) to 24.7 (14.8-40.8). Clinical follow-up and more detailed liver studies of a subset of patients, including ultrasound liver scan, liver elastography and liver biopsy in one case, did not show any significant structural damage or evolution towards liver insufficiency.
  
  
  CONCLUSIONS
  Elevation of liver enzymes is a frequent and previously unrecognized feature of the MYH9-RD syndrome; however, this defect does not appear to have poor prognostic value.
authors.affiliation: Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pecci
authors.forename: Ginevra
authors.initials: G
authors.lastname: Biino
authors.forename: Tiziana
authors.initials: T
authors.lastname: Fierro
authors.forename: Valeria
authors.initials: V
authors.lastname: Bozzi
authors.forename: Annamaria
authors.initials: A
authors.lastname: Mezzasoma
authors.forename: Patrizia
authors.initials: P
authors.lastname: Noris
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Loffredo
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
authors.forename: Stefania
authors.initials: S
authors.lastname: Momi
authors.forename: Umberto
authors.initials: U
authors.lastname: Magrini
authors.forename: Mario
authors.initials: M
authors.lastname: Pirastu
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.forename: Carlo
authors.initials: C
authors.lastname: Balduini
authors.forename: Paolo
authors.initials: P
authors.lastname: Gresele
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001706:Biopsy; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003710:Demography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008099:Liver / Q000201:enzymology* / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics / Q000378:metabolism*; D016017:Odds Ratio; D013577:Syndrome; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains