scholarly journals Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 797
Author(s):  
Silvia Bettini ◽  
Giancarlo Bombonato ◽  
Francesca Dassie ◽  
Francesca Favaretto ◽  
Luca Piffer ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Genetic Model ◽  
Liver Stiffness ◽  
Shear Wave Elastography ◽  
Genetic Alterations ◽  
Monogenic Disease ◽  
Model Assessment ◽  
Alcoholic Fatty Liver ◽  
Alström Syndrome ◽  
Alstrom Syndrome

Alström syndrome (ALMS) is an ultra-rare monogenic disease characterized by insulin resistance, multi-organ fibrosis, obesity, type 2 diabetes mellitus (T2DM), and hypertriglyceridemia with high and early incidence of non-alcoholic fatty liver disease (NAFLD). We evaluated liver fibrosis quantifying liver stiffness (LS) by shear wave elastography (SWE) and steatosis using ultrasound sonographic (US) liver/kidney ratios (L/K) in 18 patients with ALMS and 25 controls, and analyzed the contribution of metabolic and genetic alterations in NAFLD progression. We also genetically characterized patients. LS and L/K values were significantly higher in patients compared with in controls (p < 0.001 versus p = 0.013). In patients, LS correlated with the Fibrosis-4 Index and age, while L/K was associated with triglyceride levels. LS showed an increasing trend in patients with metabolic comorbidities and displayed a significant correlation with waist circumference, the homeostasis model assessment, and glycated hemoglobin A1c. SWE and US represent promising tools to accurately evaluate early liver fibrosis and steatosis in adults and children with ALMS during follow-up. We described a new pathogenic variant of exon 8 in ALMS1. Patients with ALMS displayed enhanced steatosis, an early increased age-dependent LS that is associated with obesity and T2DM but also linked to genetic alterations, suggesting that ALMS1 could be involved in liver fibrogenesis.

Liver fibrosis is common in Alstrom syndrome and can be identified using non-invasive tests

2014 ◽  
Author(s):  
Jonathan Hazlehurst ◽  
Matthew Armstrong ◽  
Jayne Hodgkiss ◽  
Rachel Crowley ◽  
Tarekegn Geberhiwot ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Non Invasive ◽  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals Liver stiffness in chronic hepatitis C virus infection

2019 ◽  
Vol 57 (2) ◽  
pp. 85-98
Author(s):  
Romeo-Gabriel Mihăilă
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Liver Fibrosis ◽  
Chronic Hepatitis C ◽  
Esophageal Varices ◽  
Transient Elastography ◽  
Liver Stiffness ◽  
Shear Wave Elastography ◽  
Stiffness Measurement ◽  
A Value

Abstract Introduction. The severity of liver fibrosis can be assessed noninvasively today by liver stiffness measurements. Vibration-controlled transient elastography, shear wave elastography or magnetic resonance elastography are techniques increasingly used for this purpose. Methods. This article presents the recent advances in the use of new techniques for liver fibrosis assessment in chronic hepatitis C: the correlation between liver stiffness values and liver fibrosis estimated by liver biopsies, the prognosis role of liver stiffness values, their usefulness in monitoring the treatment response, in assessing the severity of portal hypertension and in estimating the presence of esophageal varices. Scientific articles from January 2017 to January 2018 were searched in PubMed and PubMed Central databases, using the terms “liver stiffness” and “hepatitis C”. Results. The median liver stiffness values measured with different techniques are not identical, so that FibroScan thresholds cannot be used on any other elastographic machine. The higher the liver’s stiffness measurement, the higher the liver-related events in patients with chronic hepatitis C. A liver stiffness measurement over 17 kPa could be an independent predictor for the presence of esophageal varices as well as a spleen with a longitudinal span ≥ 15 cm for patients with a value of liver stiffness < 17 kPa. A progressive and persistent decrease in liver stiffness is dependent on sustained virological response achievement. The lack of liver stiffness decrease has been associated with relapsers and a low value of liver stiffness at baseline. Conclusion. Liver stiffness provides clues about the severity and evolution of liver disease.

scholarly journals The miRFIB-Score: A Serological miRNA-Based Scoring Algorithm for the Diagnosis of Significant Liver Fibrosis

Cells ◽  
2019 ◽  
Vol 8 (9) ◽  
pp. 1003 ◽  
Author(s):  
Lambrecht ◽  
Verhulst ◽  
Reynaert ◽  
van Grunsven
Keyword(s):  
Liver Fibrosis ◽  
Stellate Cell ◽  
Early Stage ◽  
Liver Stiffness ◽  
Diagnostic Tools ◽  
Circulating Mirnas ◽  
Alcoholic Fatty Liver ◽  
Chronic Alcohol Abuse ◽  
Significant Liver Fibrosis

Background: The current diagnosis of early-stage liver fibrosis often relies on a serological or imaging-based evaluation of the stage of fibrosis, sometimes followed by an invasive liver biopsy procedure. Novel non-invasive experimental diagnostic tools are often based on markers of hepatocyte damage, or changes in liver stiffness and architecture, which are late-stage characteristics of fibrosis progression, making them unsuitable for the diagnosis of early-stage liver fibrosis. miRNAs control hepatic stellate cell (HSC) activation and are proposed as relevant diagnostic markers. Methods: We investigated the possibility of circulating miRNAs, which we found to be dysregulated upon HSC activation, to mark the presence of significant liver fibrosis (F ≥ 2) in patients with chronic alcohol abuse, chronic viral infection (HBV/HCV), and non-alcoholic fatty liver disease (NAFLD). Results: miRNA-profiling identified miRNA-451a, miRNA-142-5p, Let-7f-5p, and miRNA-378a-3p to be significantly dysregulated upon in vitro HSC activation, and to be highly enriched in their extracellular vesicles, suggesting their potential use as biomarkers. Analysis of the plasma of patients with significant liver fibrosis (F ≥ 2) and no or mild fibrosis (F = 0-1), using miRNA-122-5p and miRNA-29a-3p as positive control, found miRNA-451a, miRNA-142-5p, and Let-7f-5p, but not miRNA-378a-3p, able to distinguish between the two patient populations. Using logistic regression analysis, combining all five dysregulated circulating miRNAs, we created the miRFIB-score with a predictive value superior to the clinical scores Fibrosis-4 (Fib-4), aspartate aminotransferase/alanine aminotransferase (AST/ALT) ratio, and AST to platelet ratio index (APRI). The combination of the miRFIB-score with circulating PDGFRβ-levels further increased the predictive capacity for the diagnosis of significant liver fibrosis. Conclusions: The miRFIB- and miRFIBp-scores are accurate tools for the diagnosis of significant liver fibrosis in a heterogeneous patient population.

scholarly journals Advances in non-invasive assessment of hepatic fibrosis

Gut ◽  
2020 ◽  
Vol 69 (7) ◽  
pp. 1343-1352 ◽  
Author(s):  
Rohit Loomba ◽  
Leon A Adams
Keyword(s):  
Liver Disease ◽  
Liver Fibrosis ◽  
Liver Stiffness ◽  
Chronic Liver ◽  
Response To Treatment ◽  
Fibrosis Score ◽  
Alcoholic Fatty Liver ◽  
Need For Treatment ◽  
Non Invasive ◽  
Confirmatory Tests

Liver fibrosis should be assessed in all individuals with chronic liver disease as it predicts the risk of future liver-related morbidity and thus need for treatment, monitoring and surveillance. Non-invasive fibrosis tests (NITs) overcome many limitations of liver biopsy and are now routinely incorporated into specialist clinical practice. Simple serum-based tests (eg, Fibrosis Score 4, non-alcoholic fatty liver disease Fibrosis Score) consist of readily available biochemical surrogates and clinical risk factors for liver fibrosis (eg, age and sex). These have been extensively validated across a spectrum of chronic liver diseases, however, tend to be less accurate than more ‘complex’ serum tests, which incorporate direct measures of fibrogenesis or fibrolysis (eg, hyaluronic acid, N-terminal propeptide of type three collagen). Elastography methods quantify liver stiffness as a marker of fibrosis and are more accurate than simple serum NITs, however, suffer increasing rates of unreliability with increasing obesity. MR elastography appears more accurate than sonographic elastography and is not significantly impacted by obesity but is costly with limited availability. NITs are valuable for excluding advanced fibrosis or cirrhosis, however, are not sufficiently predictive when used in isolation. Combining serum and elastography techniques increases diagnostic accuracy and can be used as screening and confirmatory tests, respectively. Unfortunately, NITs have not yet been demonstrated to accurately reflect fibrosis change in response to treatment, limiting their role in disease monitoring. However, recent studies have demonstrated lipidomic, proteomic and gut microbiome profiles as well as microRNA signatures to be promising techniques for fibrosis assessment in the future.

Establishing Reliability Criteria for Liver ElastPQ Shear Wave Elastography (ElastPQ-SWE): Comparison Between 10, 5 and 3 Measurements

2019 ◽  
Author(s):  
Davide Roccarina ◽  
Laura Iogna Prat ◽  
Elena Buzzetti ◽  
Marta Guerrero Misas ◽  
Francesco Marcello Aricó ◽  
...  
Keyword(s):  
Liver Disease ◽  
Diagnostic Performance ◽  
Liver Stiffness ◽  
Quality Criterion ◽  
Quality Criteria ◽  
Shear Wave Elastography ◽  
Primary Biliary Cholangitis ◽  
Alcoholic Fatty Liver ◽  
Non Invasive ◽  
The Difference

Abstract Purpose ElastPQ is a new elastography technique for non-invasive liver fibrosis staging. However, it does not have validated reliability criteria. We tested the reliability of a different number of measurements in patients with chronic liver disease and explored whether the application of quality criteria improves the diagnostic performance. Materials and Methods All patients underwent liver stiffness assessment (LSM) with ElastPQ and Fibroscan (F-TE). The mean, median, standard deviation (SD) and interquartile range (IQR) of 10, 5 and 3 measurements were retrospectively collected for each patient and compared to each other. Liver histology was available in a subset of patients. Results Overall, 400 patients met the inclusion criteria. Non-alcoholic fatty liver disease (NAFLD) was the most represented etiology (75 %), followed by primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC) and autoimmune hepatitis (AIH). The correlation of medians was significantly better between 10 and 5 measurements than between 10 and 3. The difference of medians was significant only in the comparison between 10 and 3 measurements. The correlation between ElastPQ and F-TE was equally good for 10 and 5 measurements and significantly improved after an IQR/median ≤ 30 % was applied. The diagnostic performance of ElastPQ was better with the median value of 10 and 5 measurements and improved if LSM values were obtained with IQR/M ≤ 30 %. Conclusion The median value of 5 valid LSMs suffices for the reliable estimation of liver stiffness using ElastPQ. The quality criterion of IQR/M ≤ 30 % should also be followed when using this technique.

scholarly journals Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome

2016 ◽  
Vol 36 (11) ◽  
pp. 1704-1712 ◽  
Author(s):  
Laura L. Gathercole ◽  
Jonathan M. Hazlehurst ◽  
Matthew J. Armstrong ◽  
Rachel Crowley ◽  
Sarah Boocock ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Alcoholic Fatty Liver ◽  
Tissue Fibrosis ◽  
Alström Syndrome ◽  
Alstrom Syndrome ◽  
Alcoholic Fatty Liver Disease

scholarly journals Free Triiodothyronine Is Associated With Hepatic Steatosis and Liver Stiffness in Euthyroid Chinese Adults With Non-Alcoholic Fatty Liver Disease

2021 ◽  
Vol 12 ◽  
Author(s):  
Wen Guo ◽  
Pei Qin ◽  
Xiao-Na Li ◽  
Juan Wu ◽  
Jing Lu ◽  
...  
Keyword(s):  
Liver Disease ◽  
Liver Fibrosis ◽  
Fatty Liver ◽  
Hepatic Steatosis ◽  
Fatty Liver Disease ◽  
Liver Stiffness ◽  
Chinese Adults ◽  
Free Triiodothyronine ◽  
Alcoholic Fatty Liver ◽  
Alcoholic Fatty Liver Disease

ObjectiveThe association between non-alcoholic fatty liver disease (NAFLD) and thyroid hormones in euthyroid subjects is unclear. We investigated the relationship between thyroid function and the severity of hepatic steatosis and liver fibrosis in a large cohort of euthyroid Chinese adults.MethodsA total of 3496 participants were enrolled. Liver ultrasonography was used to define the presence of NAFLD (n=2172) or the absence of NAFLD (n=1324). Anthropometric and biochemical measurements were made and thyroid function parameters including free triiodothyronine (FT3), free thyroxine (FT4), thyroid‐stimulating hormone (TSH) were measured. The severity of hepatic steatosis and liver stiffness was assessed by transient elastography.ResultsLevels of FT3 were significantly higher in the severe NAFLD group and moderate NAFLD group than in the mild NAFLD group (5.18 ± 0.58 vs 5.11 ± 0.57 vs 4.98 ± 0.60 pmol/L, P&lt;0.001). Participants with F4 and F3 liver fibrosis had higher FT3 levels than those with F2 fibrosis (6.33 ± 0.39 vs 5.29 ± 0.48 vs 5.20 ± 0.50 pmol/L, P&lt;0.001). However, FT4 and TSH levels did not correlate with hepatic steatosis or liver fibrosis severity. In addition, the proportions of participants with NAFLD (46.0% vs 63.1% vs 73.3%, P&lt;0.001) and liver fibrosis (11.5% vs 18.6% vs 20.8%, P&lt;0.001) increased as FT3 levels increased. Logistic regression analysis showed that FT3 levels were positively associated with the severity of hepatic steatosis and liver fibrosis presence, even after adjustment for metabolic risk factors including BMI. In non-obese participants, the FT3 level was an independently risk factor for the severity of hepatic steatosis.ConclusionsThere are positive associations of FT3 levels with the severity of hepatic steatosis and the presence of liver fibrosis in NAFLD with euthyroidism.

scholarly journals Diagnostic Accuracy of FibroScan and Factors Affecting Measurements

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 940 ◽  
Author(s):  
Satoshi Oeda ◽  
Kenichi Tanaka ◽  
Ayaka Oshima ◽  
Yasue Matsumoto ◽  
Eisaburo Sueoka ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Liver Steatosis ◽  
Liver Stiffness ◽  
The Body ◽  
Liver Stiffness Measurement ◽  
Alcoholic Fatty Liver ◽  
Factors Affecting ◽  
Non Invasive ◽  
Significant Difference ◽  
Alcoholic Fatty Liver Disease

Evaluating liver steatosis and fibrosis is important for patients with non-alcoholic fatty liver disease. Although liver biopsy and pathological assessment is the gold standard for these conditions, this technique has several disadvantages. The evaluation of steatosis and fibrosis using ultrasound B-mode imaging is qualitative and subjective. The liver stiffness measurement (LSM) and controlled attenuation parameter (CAP) determined using FibroScan are the evidence-based non-invasive measures of liver fibrosis and steatosis, respectively. The LSM and CAP measurements are carried out simultaneously, and the median values of more than ten valid measurements are used to quantify liver fibrosis and steatosis. Here, we demonstrate that the reliability of the LSM depends on the interquartile range to median ratio (IQR/Med), but CAP values do not depend on IQR/Med. In addition, the LSM is affected by inflammation, congestion, and cholestasis in addition to fibrosis, while CAP values are affected by the body mass index in addition to steatosis. We also show that the M probe provides higher LSM values but lower CAP values than the XL probe in the same population. However, there was no statistically significant difference between the diagnostic accuracies of the two probes. These findings are important to understand the reliability of FibroScan measurements and the factors influencing measurement values for all patients.

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