Non-alcoholic fatty liver in hereditary fructose intolerance

Area of Science:

• Hepatology
• Metabolic Disorders
• Genetics

Background:

• Non-alcoholic fatty liver disease (NAFLD) is defined as liver fat accumulation (>5% liver volume) not caused by alcohol.
• Fructose consumption is a known contributor to NAFLD.
• While fructose intake is linked to fatty liver in animal models, its prevalence in treated Hereditary Fructose Intolerance (HFI) patients is understudied.

Purpose of the Study:

• To investigate the association between HFI and NAFLD in patients undergoing dietary treatment.
• To determine the prevalence of fatty liver in a cohort of HFI patients with long-term fructose, sorbitol, and sucrose exclusion.

Main Methods:

• A cross-sectional observational study included 16 genetically diagnosed HFI patients (ages 3-48) on dietary treatment for at least two years.
• Anthropometric measurements and blood samples were collected for analytical studies.
• Hepatic Magnetic Resonance Imaging (MRI) and other imaging techniques were used to assess liver fat.

Main Results:

• The study group had a mean BMI of 17.9 ± 2.9 kg/m², with normal HOMA and Quick indices.
• Increased S-adenosyl-methionine (SAM)/S-adenosyl-l-homocysteine (SAH) ratio was observed in analyzed patients.
• Fatty liver was detected in 9 out of 16 HFI patients (56%), with 7 cases identified by hepatic MRI. Only 3 patients presented hepatomegaly.

Conclusions:

• A high prevalence of fatty liver exists in treated HFI patients, independent of obesity and insulin resistance.
• The c.448G>C mutation was associated with fatty infiltration in 7 out of 9 affected patients.
• Identifying fatty liver in HFI and developing targeted therapies can significantly enhance patient quality of life.