Care standards for non-alcoholic fatty liver disease in the United Kingdom 2016: a cross-sectional survey

OBJECTIVE: Guidelines for the assessment of non-alcoholic fatty liver disease (NAFLD) have been published in 2016 by National Institute for Health and Care Excellence and European Associations for the study of the Liver-European Association for the study of Diabetes-European Association for the study of Obesity. Prior to publication of these guidelines, we performed a cross-sectional survey of gastroenterologists and hepatologists regarding NAFLD diagnosis and management. DESIGN: An online survey was circulated to members of British Association for the Study of the Liver and British Society of Gastroenterology between February 2016 and May 2016. RESULTS: 175 gastroenterologists/hepatologists responded, 116 completing the survey, representing 84 UK centres. 22% had local NAFLD guidelines. 45% received >300 referrals per year from primary care for investigation of abnormal liver function tests (LFTs). Clinical assessment tended to be performed in secondary rather than primary care including body mass index (82% vs 26%) and non-invasive liver screen (86% vs 32%) and ultrasound (81% vs 37%). Widely used tools for non-invasive fibrosis risk stratification were aspartate transaminase (AST)/alanine transaminase (ALT) ratio (53%), Fibroscan (50%) and NAFLD fibrosis score (41%). 78% considered liver biopsy in selected cases. 50% recommended 10% weight loss target as first-line treatment. Delivery of lifestyle interventions was mostly handed back to primary care (56%). A minority have direct access to community weight management services (22%). Follow-up was favoured by F3/4 fibrosis (72.9%), and high-risk non-invasive fibrosis tests (51%). Discharge was favoured by simple steatosis at biopsy (30%), and low-risk non-invasive scores (25%). CONCLUSIONS: The survey highlights areas for improvement of service provision for NAFLD assessment including improved recognition of non-alcoholic steatohepatitis in people with type 2 diabetes, streamlining abnormal LFT referral pathways, defining non-invasive liver fibrosis assessment tools, use of liver biopsy, managing metabolic syndrome features and improved access to lifestyle interventions

Alkoholiin liittymättömän rasvamaksataudin (NAFLD) diagnoosi

English summar

Evaluation of polygenic determinants of non-alcoholic fatty liver disease (NAFLD) by a candidate genes resequencing strategy

NAFLD is a polygenic condition but the individual and cumulative contribution of identified genes remains to be established. To get additional insight into the genetic architecture of NAFLD, GWAS-identified GCKR, PPP1R3B, NCAN, LYPLAL1 and TM6SF2 genes were resequenced by next generation sequencing in a cohort of 218 NAFLD subjects and 227 controls, where PNPLA3 rs738409 and MBOAT7 rs641738 genotypes were also obtained. A total of 168 sequence variants were detected and 47 were annotated as functional. When all functional variants within each gene were considered, only those in TM6SF2 accumulate in NAFLD subjects compared to controls (P = 0.04). Among individual variants, rs1260326 in GCKR and rs641738 in MBOAT7 (recessive), rs58542926 in TM6SF2 and rs738409 in PNPLA3 (dominant) emerged as associated to NAFLD, with PNPLA3 rs738409 being the strongest predictor (OR 3.12, 95% CI, 1.8-5.5, P 0.28 was associated with a 3-fold increased risk of NAFLD. Interestingly, rs61756425 in PPP1R3B and rs641738 in MBOAT7 genes were predictors of NAFLD severity. Overall, TM6SF2, GCKR, PNPLA3 and MBOAT7 were confirmed to be associated with NAFLD and a score based on these genes was highly predictive of this condition. In addition, PPP1R3B and MBOAT7 might influence NAFLD severity

Mediterranean diet or genome-based nutrition diets in Latin America's clinical practice guidelines for managing chronic liver diseases?

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Асоціація Pro12Ala поліморфізму гена PPAR-γ з біохімічними показниками крові, цитокіновим і адипокіновим профілями та структурно-функціональними параметрами печінки у пацієнтів із неалкогольною жировою хворобою печінки

Досліджено зв’язок Pro12Ala поліморфізму гена PPAR-γ з біохімічними показниками крові, цитокіновим і адипокіновим профілями та структурно-функціональними параметрами печінки у пацієнтів із неалкогольною жировою хворобою печінки. Встановлено, що частота поширення мінорного Ala-алеля гена PPAR-γ у пацієнтів із неалкогольною жировою хворобою печінки достовірно не відрізняється від такої у практично здорових осіб. Наявність Ala/Ala- та Pro/Ala-генотипів за геном PPAR-γ у пацієнтів із неалкогольною жировою хворобою печінки асоційована з достовірно вищою активністю маркерів цитолітичного синдрому порівняно з пацієнтами з Pro/Pro-генотипом на тлі подібних структурно-функціональних змін печінки. У обстежених пацієнтів з Ala/Ala- та Pro/Ala-генотипами відзначено вищі рівні лептину та передсердного натрійуретичного пропептиду у крові порівняно з пацієнтами з Pro/Pro-генотипом.Резюме. Исследована связь Pro12Ala полиморфизма гена PPAR-γ с биохимическими показателями крови, цитокиновым и адипокиновым профилями и структурно-функциональными параметрами печени у пациентов с неалкогольной жировой болезнью печени. Установлено, что распространение минорного Ala-аллеля гена PPAR-γ у пациентов с неалкогольной жировой болезнью печени достоверно не отличается от практически здоровых лиц. Наличие Ala/Ala и Pro/Ala генотипов по гену PPAR-γ у пациентов с неалкогольной жировой болезнью печени ассоциировано с достоверно высшей активностью маркеров цитолитического синдрома по сравнению с наличием Pro/Pro-генотипа на фоне сходных структурно-функциональных изменений печени. У обследованных пациентов с Ala/Ala и Pro/Ala генотипами отмечены более высокие уровни лептина и предсердного натрийуретического пропептида в крови по сравнению с пациентами Pro/Pro-генотипом.The association of Pro12Ala polymorphism of PPAR-γ gene and biochemical blood indicators, cytokine and adipokine profiles, structural and functional parameters of liver in patients with nonalcoholic fatty liver disease was investigated. The Ala-allele of PPAR-γ gene prevalence in patients with nonalcoholic fatty liver disease wasn’t significantly different from proper distribution in healthy individuals. The Ala/Ala and Pro/ Ala genotype of PPAR-γ gene in patients with nonalcoholic fatty liver disease was associated with significantly higher activity of cytolytic syndrome compared with Pro/Pro-genotype which occurred on the background of similar structural and functional changes in liver. Patients with Ala/Ala and Pro/Ala genotypes were characterized by higher leptin and atrial natriuretic propeptide blood levels compared to patients with Pro/Pro-genotype.Кафедра пропедевтики внутрішніх хворо