1. Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome.
- Author
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Pecci, Alessandro, Biino, Ginevra, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Annamaria, Noris, Patrizia, Ramenghi, Ugo, Loffredo, Giuseppe, Fabris, Fabrizio, Momi, Stefania, Magrini, Umberto, Pirastu, Mario, Savoia, Anna, Balduini, Carlo, and Gresele, Paolo
- Subjects
THROMBOCYTOPENIA ,ENZYMES ,DEAFNESS ,LIVER biopsy ,BLOOD platelet disorders ,KIDNEY diseases - 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. Methods and Findings: 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. [ABSTRACT FROM AUTHOR]
- Published
- 2012
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