Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)

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Sivunen , J , Karlberg , S , Kivisaari , R , Lohi , J , Karlberg , N , Jokinen , E , Sarkola , T , Jahnukainen , T , Lipsanen-Nyman , M & Jalanko , H 2022 , ' Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism) ' , Liver International , vol. 42 , no. 6 , pp. 1369-1378 .

Title: Liver pathology and biochemistry in patients with mutations in TRIM37 gene (Mulibrey nanism)
Author: Sivunen, Johanna; Karlberg, Susann; Kivisaari, Reetta; Lohi, Jouko; Karlberg, Niklas; Jokinen, Eero; Sarkola, Taisto; Jahnukainen, Timo; Lipsanen-Nyman, Marita; Jalanko, Hannu
Contributor organization: HUS Children and Adolescents
Children's Hospital
Faculty of Medicine
HUS Medical Imaging Center
Department of Diagnostics and Therapeutics
Department of Pathology
Lastentautien yksikkö
Date: 2022-06
Language: eng
Number of pages: 10
Belongs to series: Liver International
ISSN: 1478-3223
Abstract: Background and Aims Mulibrey nanism (MUL) is a multiorgan disease caused by recessive mutations in the TRIM37 gene. Chronic heart failure and hepatopathy are major determinants of prognosis in MUL patients, which prompted us to study liver biochemistry and pathology in a national cohort of MUL patients. Methods Clinical, laboratory and imaging data were collected in a cross-sectional survey and retrospectively from hospital records. Liver histology and immunohistochemistry for 10 biomarkers were assessed. Results Twenty-one MUL patients (age 1-51 years) with tumour suspicion showed moderate congestion, steatosis and fibrosis in liver biopsies and marginally elevated levels of serum GGT, AST, ALT and AST to platelet ratio index (APRI) in 20%-66%. Similarly, GGT, AST, ALT and APRI levels were moderately elevated in 12%-69% of 17 MUL patients prior to pericardiectomy. In a cross-sectional evaluation of 36 MUL outpatients, GGT, total bilirubin and galactose half-life (Gal1/2) correlated with age (r = 0.45, p = .017; r = 0.512, p = .007; r = 0.44, p = .03 respectively). The frequency of clearly abnormal serum values of 15 parameters analysed, however, was low even in patients with signs of restrictive cardiomyopathy. Transient elastography (TE) of the liver revealed elevated levels in 50% of patients with signs of heart failure and TE levels correlated with several biochemistry parameters. Biomarkers of fibrosis, sinusoidal capillarization and hepatocyte metaplasia showed increased expression in autopsy liver samples from 15 MUL patients. Conclusion Liver disease in MUL patients was characterized by sinusoidal dilatation, steatosis and fibrosis with individual progression to cirrhosis and moderate association of histology with cardiac function, liver biochemistry and elastography.
Subject: congestive hepatopathy
elasticity imaging techniques
liver cirrhosis
3121 General medicine, internal medicine and other clinical medicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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