Liu Xia-Rong, Yin Szu-Ching, Chen Yi-Ting, Lee Mei-Hsuan
Institute of Clinical Medicine, College of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan, ROC.
Center of Excellence for Metabolic Associated Fatty Liver Disease, National Sun Yat-sen University, Kaohsiung, Taiwan, ROC.
J Chin Med Assoc. 2025 May 1;88(5):343-351. doi: 10.1097/JCMA.0000000000001230. Epub 2025 Mar 25.
This article synthesizes the current knowledge on the epidemiology of metabolic dysfunction-associated steatotic liver disease (MASLD), its associated risks, and its genetic determinants. The findings presented in this article can be used to develop clinical strategies to reduce MASLD's growing global burden. MASLD has become a major global health concern due to increasing rates of obesity, sedentary lifestyles, and metabolic disorders. MASLD is a leading cause of end-stage liver diseases, including cirrhosis and hepatocellular carcinoma (HCC), and MASLD also significantly increases the risk of cardiovascular disease (CVD), thereby exerting dual effects on liver and cardiovascular health. MASLD was once referred to as nonalcoholic fatty liver disease, and this change in nomenclature reflects a growing focus on its metabolic underpinnings, facilitating the more precise diagnosis and clinical management of this disease. Epidemiological studies have demonstrated that the prevalence of MASLD is increasing worldwide, although the prevalence varies across regions and populations. Noninvasive diagnostic tools such as ultrasound and fatty liver indices along with biomarkers such as alanine aminotransferase (ALT) are crucial for early detection and risk stratification. Genetic research has identified key gene variants, including PNPLA3 (rs738409) and TM6SF2 (rs58542926), that influence MASLD susceptibility and progression, and these findings have created opportunities for improving precision medicine with respect to treating MASLD. Research has revealed an association between MASLD and major adverse cardiovascular events and increased mortality, which highlights the importance of integrating cardiovascular risk management into treatment strategies for MASLD. Future research should focus on advancing noninvasive diagnostics, leveraging genetic insights to provide tailored care, and implementing population-specific interventions to address regional variations.
本文综合了目前关于代谢功能障碍相关脂肪性肝病（MASLD）的流行病学、相关风险及其遗传决定因素的知识。本文所呈现的研究结果可用于制定临床策略，以减轻MASLD在全球日益增长的负担。由于肥胖率上升、久坐不动的生活方式和代谢紊乱，MASLD已成为全球主要的健康问题。MASLD是包括肝硬化和肝细胞癌（HCC）在内的终末期肝病的主要原因，并且MASLD还显著增加了心血管疾病（CVD）的风险，从而对肝脏和心血管健康产生双重影响。MASLD曾被称为非酒精性脂肪性肝病，这种命名变化反映了对其代谢基础的日益关注，有助于对该疾病进行更精确的诊断和临床管理。流行病学研究表明，尽管MASLD的患病率在不同地区和人群中有所不同，但在全球范围内呈上升趋势。超声和脂肪肝指数等非侵入性诊断工具以及丙氨酸转氨酶（ALT）等生物标志物对于早期检测和风险分层至关重要。基因研究已经确定了关键基因变异，包括PNPLA3（rs738409）和TM6SF2（rs58542926），它们影响MASLD的易感性和进展，这些发现为改善MASLD治疗方面的精准医学创造了机会。研究揭示了MASLD与主要不良心血管事件和死亡率增加之间的关联，这凸显了将心血管风险管理纳入MASLD治疗策略的重要性。未来的研究应侧重于推进非侵入性诊断、利用基因见解提供个性化护理，以及实施针对特定人群的干预措施以应对地区差异。
