Nonalcoholic Fatty Liver Disease (NAFLD)
BASICS
Description
- NAFLD is a spectrum of liver diseases:
- NAFL: Reversible fatty infiltration of liver (no cell injury/fibrosis)
- NASH: Fatty liver with inflammation, hepatocyte injury, and possible fibrosis
- NASH Cirrhosis: Cirrhosis with current/past evidence of steatosis/steatohepatitis
- Not due to other causes (alcohol, viral hepatitis, medications)
EPIDEMIOLOGY
- Most common chronic liver disease in the US/industrialized nations
- Up to 90% of asymptomatic mild aminotransferase elevation not caused by alcohol/other etiology is NAFLD
- Predicted to be most frequent indication for liver transplant by 2030
- Prevalence: 10β46% (US); 58β74% of obese, 90% morbidly obese, 69β87% with T2DM, 50% with dyslipidemia
- Affects adults (40sβ50s), children (9.6% pediatric prevalence, rising with obesity)
- Sex: Male = Female
ETIOLOGY AND PATHOPHYSIOLOGY
- Key mechanism: Insulin resistance β β lipolysis, triglyceride synthesis, hepatic FA uptake
- NAFL: Excessive triglyceride accumulation, impaired FA removal
- NASH: "Multiple hit" (insulin resistance, hormones, oxidative stress, genetics, gut microbiota) β inflammation, cell injury
- Genetics: Some familial clustering, higher prevalence in first-degree relatives
RISK FACTORS
- Obesity (BMI >30), central obesity, metabolic syndrome
- Type 2 DM, hypertension, dyslipidemia, CVD, CKD
- Protein-calorie malnutrition, long-term TPN
- Severe weight loss (starvation, bariatric surgery)
- Exposure: organic solvents, vinyl chloride, hypoglycin A
- Drugs: steroids, tamoxifen, MTX, amiodarone, antiretrovirals, valproic acid, etc.
- Smoking, increasing age, cholecystectomy
Pregnancy
- Acute fatty liver of pregnancy (rare, serious; 3rd trimester; 50% w/ preeclampsia)
Pediatric
- Prevalence rising with childhood obesity
- Vitamin E may benefit
GENERAL PREVENTION
- Maintain healthy BMI, prevent/optimize DM control, avoid hepatotoxins, alcohol:
- β€2 units/day (men); β€1 unit/day (women)
- Avoid hepatotoxic meds
COMMONLY ASSOCIATED CONDITIONS
- Central obesity, metabolic syndrome, T2DM, hypertension, dyslipidemia
- CVD, arrhythmias, CKD, hypothyroidism, hypogonadism, OSA, PCOS, GH deficiency
- Preeclampsia (pregnancy)
DIAGNOSIS
- No routine screening (lack of proven drug therapy/unclear long-term screening benefit)
- Suspect in patients with asymptomatic elevated aminotransferases and metabolic risk factors
- Often asymptomatic (possible fatigue, RUQ discomfort)
Physical Exam
- May be normal or show liver tenderness, hepatomegaly, splenomegaly
- Advanced: stigmata of CLD, portal hypertension, jaundice
Diagnosis Requires:
- Hepatic steatosis by imaging/biopsy
- No significant alcohol use
- Exclusion of other causes
- No coexisting chronic liver disease
Labs/Imaging
- AST/ALT: may be elevated, usually <3β4x ULN; AST/ALT <1
- Lipid profile: β cholesterol, β LDL, β TG, β HDL
- Ferritin: elevated
- Other labs to exclude other causes: celiac, Ξ±1-antitrypsin, iron, copper, hepatitis serologies, ANA, etc.
- Imaging:
- US (first-line): hyperechoic liver
- Elastography (FibroScan, VCTE, ARFI, MRE): fibrosis assessment
- Noninvasive scoring: NAFLD fibrosis score, FIB-4, APRI
- Liver biopsy: gold standard (for uncertain/progressive cases; only if management will change)
Histology Scoring
- NAS (NAFLD Activity Score): steatosis (0β3), inflammation (0β3), ballooning (0β2); β₯5 = NASH likely
- Fibrosis staging (0β4)
DIFFERENTIAL DIAGNOSIS
- Viral hepatitis, alcoholic liver disease, autoimmune hepatitis, drug/toxin hepatitis, celiac, hemochromatosis, Wilson disease, muscle disorders
TREATMENT
General Measures
- Weight loss: Cornerstone; aim for 5β10% of body weight
- Diet: Mediterranean (reduces liver fat); avoid excess alcohol
- Exercise: Aerobic 5x/week, β₯150 min/week
- Treat metabolic syndrome: Control DM, HTN, dyslipidemia, obesity
- Vaccinate: Hepatitis A/B, pneumococcal, influenza
- Avoid hepatotoxins
Medications
- No definitive drug therapy for NAFL/NASH
- Consider:
- Pioglitazone (TZD): For NASH (with or without T2DM; best in T2DM)
- Vitamin E 800 IU/d: Only in biopsy-proven NASH, non-diabetic, no β prostate CA/stroke risk
- GLP-1 agonists (semaglutide, liraglutide): Improve histology, weight loss
- Statins: CV risk reduction, safe in compensated cirrhosis
- SGLT-2 inhibitors: Reduce steatosis in T2DM (unclear on fibrosis)
- Limited/controversial: Metformin, UDCA, pentoxifylline, omega-3, aspirin, coffee, aramchol, fibroblast growth factor analogues, silymarin
Procedures
- Bariatric surgery: For severe obesity/NAFLD unresponsive to lifestyle
- Liver transplant: For end-stage liver disease (NASH may recur in new liver)
Referral
- To hepatology if persistent AST/ALT β, advanced fibrosis, or concerning biopsy/imaging findings
ONGOING CARE
- Annual LFTs, periodic US/CT (every 2β4y) if at risk
- Repeat liver biopsy if fibrosis progression suspected (β₯5y after baseline)
- Fibrosis stage is strongest predictor of mortality
- HCC screening in noncirrhotic NAFLD: Not yet established
DIET
- Low saturated/trans fats, low simple carbs, avoid excess alcohol
PATIENT EDUCATION
- Importance of lifestyle change (nutrition, activity, alcohol avoidance)
- Support for sustained weight loss
PROGNOSIS
- NASH is the progressive form; can lead to cirrhosis, HCC, cholangiocarcinoma, liver failure
- Cirrhosis in up to 20%; HCC in up to 42% (even without cirrhosis)
- Transplant effective, but NAFLD recurs if risk factors persist
COMPLICATIONS
- Decompensated cirrhosis, portal hypertension, ascites, encephalopathy, variceal bleed, hepatorenal/hepatopulmonary syndromes
ICD-10 CODE
- K76.0 Fatty (change of) liver, not elsewhere classified
Clinical Pearls
- NAFLD is the most common chronic liver disease in the US and children; rising with obesity
- Spectrum: NAFL β NASH β fibrosis β cirrhosis
- Lifestyle changes with sustained weight loss are cornerstone of therapy
- NASH is the only progressive form and may occur even in absence of cirrhosis