fatty liver disease
There's a Fatty Liver Epidemic. AI Could Help Get Ahead of It
Over a billion people worldwide have livers with excess fat, which can lead to a host of medical problems. Researchers think AI tools can spot the condition--and help stop it--early enough to save lives. All over the world, a slow, insidious change is taking place in the composition of the livers of more than a billion people. While the presence of fat in a normal, healthy liver is negligible, many adults and even children have livers where fat exceeds 5 percent or even 10 percent of the organ's total weight. Its unnatural presence causes inflammation, cell damage, and the formation of scar tissue known as fibrosis, all hallmarks of fatty liver disease, a condition that now impacts approximately 30 percent of adults worldwide .
Conformal Risk Prediction for Non-Alcoholic Fatty Liver Disease Using Gradient Boosting with Distribution-Free Coverages
Non-alcoholic fatty liver disease (NAFLD) affects roughly 25% of global adults, posing substantial hepatic and cardiovascular risks. Yet, population-level screening tools remain inadequate. We present Method, a machine-learning framework for NAFLD risk prediction coupling gradient-boosted decision trees with conformal prediction to yield calibrated, distribution-free coverage guarantees on individual risk estimates. It integrates a mutual-information-based stability selection procedure to identify a compact, clinically interpretable feature subset via bootstrap resampling, constructing prediction sets whose marginal coverage provably exceeds a user-specified confidence level. We evaluated Method on a multicenter cohort from Guangzhou, China (primary n=2,187; external validation n=412) using 78 candidate features across demographics, metabolic biomarkers, and lifestyle factors. Method achieves an AUROC of 0.912 internally and 0.891 externally, outperforming deep neural networks, TabNet, support vector machines, and logistic regression. Conformal prediction sets achieve 91.3% empirical coverage at the 90% nominal level. A three-tier risk stratification derived from these scores separates the population into distinct groups, with the high-risk subgroup showing a 12-month progression rate 4.7 times that of the low-risk tier. The selected features -- notably waist circumference, ALT, GGT, triglycerides, fasting glucose, and BMI -- align with established metabolic risk factors, providing biological plausibility.
A Generative AI-Powered Digital Twin for Adaptive NASH Care
Non-alcoholic steatohepatitis (NASH), a severe form of fatty liver disease, is projected to become the leading cause of liver transplants globally. Despite advances in diagnostics, the lack of continuous, personalized patient engagement remains a key barrier to effective prevention and care. This post explores an innovative solution: MirrorLiver-MCP, a generative AI-powered conversational digital twin integrated with modular clinical pathways (MCP) to transform liver health management. As a researcher and AI practitioner, I've spent the past few years exploring how generative models, those that create text, dialogue, or even medical hypotheses, can move beyond novelty and become embedded in clinical workflows. The idea behind MirrorLiver-MCP arose from a simple question: "What if every patient had an AI-powered twin that could proactively coach them through lifestyle-based care before reaching irreversible liver damage?"
AI-Driven Non-Invasive Detection and Staging of Steatosis in Fatty Liver Disease Using a Novel Cascade Model and Information Fusion Techniques
Delfan, Niloufar, Moghadam, Pardis Ketabi, Khoshnevisan, Mohammad, Chagahi, Mehdi Hosseini, Hatami, Behzad, Asgharzadeh, Melika, Zali, Mohammadreza, Moshiri, Behzad, Moghaddam, Amin Momeni, Khalafi, Mohammad Amin, Dehnad, Khosrow
Non-alcoholic fatty liver disease (NAFLD) is one of the most widespread liver disorders on a global scale, posing a significant threat of progressing to more severe conditions like nonalcoholic steatohepatitis (NASH), liver fibrosis, cirrhosis, and hepatocellular carcinoma. Diagnosing and staging NAFLD presents challenges due to its non-specific symptoms and the invasive nature of liver biopsies. Our research introduces a novel artificial intelligence cascade model employing ensemble learning and feature fusion techniques. We developed a non-invasive, robust, and reliable diagnostic artificial intelligence tool that utilizes anthropometric and laboratory parameters, facilitating early detection and intervention in NAFLD progression. Our novel artificial intelligence achieved an 86% accuracy rate for the NASH steatosis staging task (non-NASH, steatosis grade 1, steatosis grade 2, and steatosis grade 3) and an impressive 96% AUC-ROC for distinguishing between NASH (steatosis grade 1, grade 2, and grade3) and non-NASH cases, outperforming current state-of-the-art models. This notable improvement in diagnostic performance underscores the potential application of artificial intelligence in the early diagnosis and treatment of NAFLD, leading to better patient outcomes and a reduced healthcare burden associated with advanced liver disease.
Semi-Supervised Graph Representation Learning with Human-centric Explanation for Predicting Fatty Liver Disease
Kim, So Yeon, Wang, Sehee, Choe, Eun Kyung
Addressing the challenge of limited labeled data in clinical settings, particularly in the prediction of fatty liver disease, this study explores the potential of graph representation learning within a semi-supervised learning framework. Leveraging graph neural networks (GNNs), our approach constructs a subject similarity graph to identify risk patterns from health checkup data. The effectiveness of various GNN approaches in this context is demonstrated, even with minimal labeled samples. Central to our methodology is the inclusion of human-centric explanations through explainable GNNs, providing personalized feature importance scores for enhanced interpretability and clinical relevance, thereby underscoring the potential of our approach in advancing healthcare practices with a keen focus on graph representation learning and human-centric explanation.
Deep Phenotyping of Non-Alcoholic Fatty Liver Disease Patients with Genetic Factors for Insights into the Complex Disease
Priya, Tahmina Sultana, Leng, Fan, Luehrs, Anthony C., Klee, Eric W., Allen, Alina M., Lazaridis, Konstantinos N., Danfeng, null, Yao, null, Tian, Shulan
Non-alcoholic fatty liver disease (NAFLD) is a prevalent chronic liver disorder characterized by the excessive accumulation of fat in the liver in individuals who do not consume significant amounts of alcohol, including risk factors like obesity, insulin resistance, type 2 diabetes, etc. We aim to identify subgroups of NAFLD patients based on demographic, clinical, and genetic characteristics for precision medicine. The genomic and phenotypic data (3,408 cases and 4,739 controls) for this study were gathered from participants in Mayo Clinic Tapestry Study (IRB#19-000001) and their electric health records, including their demographic, clinical, and comorbidity data, and the genotype information through whole exome sequencing performed at Helix using the Exome+$^\circledR$ Assay according to standard procedure (www$.$helix$.$com). Factors highly relevant to NAFLD were determined by the chi-square test and stepwise backward-forward regression model. Latent class analysis (LCA) was performed on NAFLD cases using significant indicator variables to identify subgroups. The optimal clustering revealed 5 latent subgroups from 2,013 NAFLD patients (mean age 60.6 years and 62.1% women), while a polygenic risk score based on 6 single-nucleotide polymorphism (SNP) variants and disease outcomes were used to analyze the subgroups. The groups are characterized by metabolic syndrome, obesity, different comorbidities, psychoneurological factors, and genetic factors. Odds ratios were utilized to compare the risk of complex diseases, such as fibrosis, cirrhosis, and hepatocellular carcinoma (HCC), as well as liver failure between the clusters. Cluster 2 has a significantly higher complex disease outcome compared to other clusters. Keywords: Fatty liver disease; Polygenic risk score; Precision medicine; Deep phenotyping; NAFLD comorbidities; Latent class analysis.
Multi-modal Learning based Prediction for Disease
Chen, Yaran, Chen, Xueyu, Han, Yu, Li, Haoran, Zhao, Dongbin, Li, Jingzhong, Wang, Xu
Non alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease, which can be predicted accurately to prevent advanced fibrosis and cirrhosis. While, a liver biopsy, the gold standard for NAFLD diagnosis, is invasive, expensive, and prone to sampling errors. Therefore, non-invasive studies are extremely promising, yet they are still in their infancy due to the lack of comprehensive research data and intelligent methods for multi-modal data. This paper proposes a NAFLD diagnosis system (DeepFLDDiag) combining a comprehensive clinical dataset (FLDData) and a multi-modal learning based NAFLD prediction method (DeepFLD). The dataset includes over 6000 participants physical examinations, laboratory and imaging studies, extensive questionnaires, and facial images of partial participants, which is comprehensive and valuable for clinical studies. From the dataset, we quantitatively analyze and select clinical metadata that most contribute to NAFLD prediction. Furthermore, the proposed DeepFLD, a deep neural network model designed to predict NAFLD using multi-modal input, including metadata and facial images, outperforms the approach that only uses metadata. Satisfactory performance is also verified on other unseen datasets. Inspiringly, DeepFLD can achieve competitive results using only facial images as input rather than metadata, paving the way for a more robust and simpler non-invasive NAFLD diagnosis.
MAFUS: a Framework to predict mortality risk in MAFLD subjects
Lofù, Domenico, Sorino, Paolo, Colafiglio, Tommaso, Bonfiglio, Caterina, Narducci, Fedelucio, Di Noia, Tommaso, Di Sciascio, Eugenio
Metabolic (dysfunction) associated fatty liver disease (MAFLD) establishes new criteria for diagnosing fatty liver disease independent of alcohol consumption and concurrent viral hepatitis infection. However, the long-term outcome of MAFLD subjects is sparse. Few articles are focused on mortality in MAFLD subjects, and none investigate how to predict a fatal outcome. In this paper, we propose an artificial intelligence-based framework named MAFUS that physicians can use for predicting mortality in MAFLD subjects. The framework uses data from various anthropometric and biochemical sources based on Machine Learning (ML) algorithms. The framework has been tested on a state-of-the-art dataset on which five ML algorithms are trained. Support Vector Machines resulted in being the best model. Furthermore, an Explainable Artificial Intelligence (XAI) analysis has been performed to understand the SVM diagnostic reasoning and the contribution of each feature to the prediction. The MAFUS framework is easy to apply, and the required parameters are readily available in the dataset.
Machine learning using longitudinal prescription and medical claims for the detection of nonalcoholic steatohepatitis (NASH)
Yasar, Ozge, Long, Patrick, Harder, Brett, Marshall, Hanna, Bhasin, Sanjay, Lee, Suyin, Delegge, Mark, Roy, Stephanie, Doyle, Orla, Leavitt, Nadea, Rigg, John
Objectives To develop and evaluate machine learning models to detect suspected undiagnosed nonalcoholic steatohepatitis (NASH) patients for diagnostic screening and clinical management. Methods In this retrospective observational noninterventional study using administrative medical claims data from 1,463,089 patients, gradient-boosted decision trees were trained to detect likely NASH patients from an at-risk patient population with a history of obesity, type 2 diabetes mellitus (T2DM), metabolic disorder, or nonalcoholic fatty liver (NAFL). Models were trained to detect likely NASH in all at-risk patients or in the subset without a prior NAFL diagnosis (non-NAFL at-risk patients). Models were trained and validated using retrospective medical claims data and assessed using area under precision recall and receiver operating characteristic curves (AUPRCs, AUROCs). Results The 6-month incidence of NASH in claims data was 1 per 1,437 at-risk patients and 1 per 2,127 non-NAFL at-risk patients. The model trained to detect NASH in all at-risk patients had an AUPRC of 0.0107 (95% CI 0.0104 - 0.011) and an AUROC of 0.84. At 10% recall, model precision was 4.3%, which is 60x above NASH incidence. The model trained to detect NASH in non-NAFL patients had an AUPRC of 0.003 (95% CI 0.0029 - 0.0031) and an AUROC of 0.78. At 10% recall, model precision was 1%, which is 20x above NASH incidence. Conclusion The low incidence of NASH in medical claims data corroborates the pattern of NASH underdiagnosis in clinical practice. Claims-based machine learning could facilitate the detection of probable NASH patients for diagnostic testing and disease management.