Journal of clinical lipidology · 2025
Clinical and biochemical spectrum of APOB-related hypobetalipoproteinemia: Insights from a retrospective cohort study.
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Sürücü Kara İlknur, Köse Engin, Mutlu Hatice, Sanrı Aslıhan, Tarugi Patrizia, Eminoğlu Fatma Tuba
Аннотация
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.
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.