Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 May-Jun;19(3):605-616.
doi: 10.1016/j.jacl.2025.02.003. Epub 2025 Feb 8.

Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study

İlknur Sürücü Kara  1 , Engin Köse  2 , Hatice Mutlu  3 , Aslıhan Sanrı  4 , Patrizia Tarugi  5 , Fatma Tuba Eminoğlu  6
Affiliations

Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study

İlknur Sürücü Kara et al. J Clin Lipidol. 2025 May-Jun.

Abstract

Background: APOB-related familial hypobetalipoproteinemia (APOB-FHBL), the most common form of primary hypobetalipoproteinemia, often leaves heterozygous patients asymptomatic. This study aims to provide updated insights into the complications observed in heterozygous and homozygous APOB-FHBL patients.

Methods: A retrospective analysis was conducted on 15 patients (53.3% female) from 7 families diagnosed with FHBL and followed in a metabolic clinic. Demographic, laboratory, clinical, and genetic data were reviewed.

Results: Patients were followed for an average of 4.5 ± 4.1 years. The median levels were as follows: low-density lipoprotein cholesterol (LDL-C; 25.7 ± 10.5 mg/dL), apolipoprotein B (ApoB; 0.3 ± 0.1 g/L), aspartate aminotransferase (AST; 40.1 ± 22.5 U/L), alanine aminotransferase (ALT; 43.0 ± 38.3 U/L), and alpha feto-protein (1.3 ± 0.7 ng/mL). Elevated AST and ALT levels were observed in 20.0% and 26.7% of cases, respectively. Vitamin E deficiency was identified in 26.7%, vitamin A deficiency in 13.3%, and vitamin D insufficiency in 66.7% of cases. Liver ultrasonography revealed hepatosteatosis in 73.3% of patients. Additionally, the study identified 5 novel APOB gene variants. Among the families, 3 had members who died due to complications related to viral infections (COVID-19, hepatitis B virus) or hepatocellular carcinoma (HCC) resulting from chronic liver disease.

Conclusion: Patients with elevated transaminase levels or hepatosteatosis should undergo a lipid profile assessment. LDL-C levels below 50 mg/dL require further evaluation, including ApoB and fat-soluble vitamin levels. Monoallelic APOB variants are linked to poor outcomes due to deficiencies in vitamins A, E, and D, as well as an increased risk of HCC. Early recognition and regular monitoring are essential for the effective management of APOB-FHBL patients.

Keywords: Elevated transaminases; Hepatosteatosis; Hypobetalipoproteinemia.

PubMed Disclaimer

Conflict of interest statement

Declaration of competing interest The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

MeSH terms