Non-alcoholic fatty liver in hereditary fructose intolerance

Luis Aldámiz-Echevarría; Javier de Las Heras; María Luz Couce; Carlos Alcalde; Isidro Vitoria; María Bueno; Javier Blasco-Alonso; María Concepción García; Mónica Ruiz; Rafael Suárez; Fernando Andrade; Olatz Villate

doi:10.1016/j.clnu.2019.02.019

Non-alcoholic fatty liver in hereditary fructose intolerance

Clin Nutr. 2020 Feb;39(2):455-459. doi: 10.1016/j.clnu.2019.02.019. Epub 2019 Feb 15.

Affiliations

¹ Unit of Metabolism, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, 48903, Spain; University of the Basque Country (UPV/EHU), Metab-European Reference Network, Spain.
² Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, Santiago de Compostela, A Coruña, 15706, Spain.
³ Paediatrics Unit, Río Hortega University Hospital, Calle Dulzaina 2, Valladolid, 47012, Spain.
⁴ Unit of Metabolopathies, La Fe University Hospital, Valencia, 46026, Spain.
⁵ Metabolic Disorders, Dietetics and Nutrition Unit, Virgen del Rocío University Hospital, Manuel Siurot Avenue, s/n, Sevilla, 41013, Spain.
⁶ Pediatric Gastroenterology, Hepatology and Nutrition Unit, Hospital Regional Universitario de Málaga, Málaga, 29001, Spain.
⁷ Metabolic Pathologies Unit, Miguel Servet University Hospital, Zaragoza, 50009, Spain.
⁸ Paediatrics Unit, Nuestra Señora de la Candelaria University Hospital, Tenerife, 38010, Spain.
⁹ Unit of Metabolism, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, 48903, Spain.
¹⁰ Unit of Metabolism, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER), Plaza de Cruces s/n, Barakaldo, 48903, Spain. Electronic address: olatz.villatebejarano@osakidetza.eus.

PMID: 30833214
DOI: 10.1016/j.clnu.2019.02.019

Abstract

Background: Non-alcoholic fatty liver disease (NAFLD) is characterized by fat accumulation affecting >5% of the liver volume that is not explained by alcohol abuse. It is known that fructose gives rise to NAFLD and it has been recently described that the ingestion of fructose in low amounts in aldolase B deficient mice is associated with the development of fatty liver. Therefore, it is reasonable that patients with HFI (Hereditary Fructose Intolerance) present fatty liver at diagnosis, but its prevalence in patients treated and with adequate follow-up is not well documented in the literature. The aim of this study is to analyze the association between HFI and NAFLD in treated patients.

Methods: A cross-sectional observational study was conducted. The population comprised 16 genetically diagnosed HFI patients aged from 3 years to 48 and in dietary treatment of fructose, sorbitol and sacarose exclusion at least for two years. Blood samples were obtained for analytical studies and anthropometric measurements of each patient were performed.

Results: Patients presented a Body Mass Index (BMI) of 17.9 ± 2.9 kg/m². The HOMA index and Quick index were in normal range for our population. The S-adenosyl-methionine (SAM)/S-adenosyl-l-homocysteine (SAH) ratio was increased in the patients in whom this analysis was performed. By imaging techniques it was observed that 9 of the 16 patients presented fatty liver (7 by hepatic MRI). Of these 9 patients, only 3 presented hepatomegaly. 7 of 9 patients affected by the c.448G > C mutation had fatty infiltration, of which three of them presented in addition hepatomegaly.

Conclusions: There is a high prevalence of fatty liver in HFI patients and it is not related to obesity and insulin resistance. The diagnosis of fatty liver in HFI patients and, above all, the identification of new therapeutic approaches, can positively impact the quality of life of these patients.

Keywords: ALDOB gene; Hereditary fructose intolerance; Mutation; Non-alcoholic fatty liver disease.

Publication types

Observational Study

MeSH terms

Adolescent
Adult
Child
Child, Preschool
Cross-Sectional Studies
Female
Fructose Intolerance / blood*
Fructose Intolerance / complications*
Humans
Liver / diagnostic imaging
Magnetic Resonance Imaging
Male
Middle Aged
Non-alcoholic Fatty Liver Disease / blood*
Non-alcoholic Fatty Liver Disease / complications*
Non-alcoholic Fatty Liver Disease / diagnostic imaging
Young Adult