Table 4.
SLD due to aetiologies other than MASLD, MetALD or ALD
| Condition | Clinical/lab/histological findings | Diagnostic criteria |
|---|---|---|
| Hepatitis C virus-associated steatotic liver (genotype 3) | Low triglycerides, HCV genotype 3 | HCV antibody with reflex testing HCV RNA and HCV genotype |
| Drug-induced Liver Disease (DILI) | Mostly microvescicular SLD | Investigate for drug intake: • Corticosteroids • Tamoxifen • Amiodarone • Irinotecan • Methotrexate • Lomitapide • Valproate • 5-Fluorouracil Liver biopsy for confirmation |
| Hypobetalipoproteinaemia | Low triglycerides and cholesterol, fat malabsorption, vitamin A deficiency | ApoB level, genetic testing (APOB, MTTP, PCSK-9, targeted panel sequencing) |
| Lipodystrophy | Accumulation of fat in the visceral area and in the muscle (generically inherited or induced by HAART therapy) | CT scan or MRI, targeted panel sequencing for congenital lipodystrophies, MRI |
| LAL deficiency (Wolman disease, cholesteryl ester storage disease-CESD) | Elevated LDL-C and triglycerides, low HDL-C, hypersplenism, advanced fibrosis in young age, predominately microvesicular steatosis | Enzyme assay, genetic testing (LIPA) |
| Pregnancy associated | HELLP syndrome Acute onset |
Elevated liver enzymes and low platelets, haemolysis, SLD at abdominal ultrasound |
| Wilson disease | Younger age, neuropsychiatric symptoms, low ceruloplasmin | 24-h urine copper excretion; quantitative copper on liver biopsy, genetic testing (ATP7B) |
| Nutrient deficiency/malnutrition | Parenteral nutrition, bypass surgeries, bariatric surgery, anorexia | Nutrient levels |
| Celiac disease | Diarrhoea, iron deficiency, vitamins deficiency | Tissue transglutaminase IgA, duodenal biopsy |
| Endocrine diseases | Hypothyroidism, PCOS, growth hormone (GH) deficiency, panhypopituitarism (primary or secondary) | TSH, fT4, fT3, endocrine testing |
| Other inherited metabolic conditions | Early age and severe onset, absence of triggering factors, systemic involvement, positive history of advanced disease in first degree relatives | Targeted panel sequencing, whole exome sequencing (WES) |
ALD, alcohol-related liver disease; ApoB, apolipoprotein B; fT3, free triiodothyronine; fT4, free thyroxine; HCV, hepatitis C virus; HAART, highly active antiretroviral therapy; HELLP, haemolysis, elevated liver enzymes and low platelets; LAL, lysosomal acid lipase; MASLD, metabolic dysfunction-associated steatotic liver disease; PCOS, polycystic ovary syndrome; SLD, steatotic liver disease; TSH, thyroid-stimulating hormone.