RESUMO
BACKGROUND: Familial hypobetalipoproteinemia (FHBL) is a hereditary disorder characterized by decreased plasma concentrations of low-density lipoprotein cholesterol. The best-characterized causes of FHBL are apolipoprotein B (apoB) gene mutations, which produce truncated apoB proteins. Fatty liver is thought to be frequent in FHBL, owing to impaired secretion of very-low-density lipoprotein from the liver. Homozygotes for FHBL present with extremely low concentrations of plasma lipids, and may suffer from deficiencies of fat-soluble vitamins. The objectives of this study were to identify apoB-defective FHBL subjects and investigate fatty liver in Japanese population. METHODS: We screened 14 hypocholesterolemic subjects for apoB gene mutations by PCR-SSCP and performed liver ultrasonography in a Japanese population. RESULTS: We identified an apoB-82 homozygote in one subject and an apoB-13.7 heterozygote in another subject. Four of 6 individuals with FHBL presented with fatty liver in those 2 FHBL families. Liver biopsy of the apoB-13.7 heterozygote, which had obesity and insulin resistance, showed severe fatty liver. The apoB-82 homozygote was asymptomatic with fat-soluble vitamin concentrations being normal, possibly due to spared secretion of apoB-48 from the intestine and increased plasma concentrations of high-density lipoprotein cholesterol. CONCLUSION: ApoB gene mutations might not be rare and that fatty liver might be frequent in Japanese FHBL.
Assuntos
Apolipoproteínas B/genética , Povo Asiático/genética , Fígado Gorduroso/genética , Hipobetalipoproteinemias/genética , Mutação/genética , Adulto , Idoso , Apolipoproteínas B/metabolismo , Sequência de Bases , LDL-Colesterol/genética , LDL-Colesterol/metabolismo , Fígado Gorduroso/diagnóstico por imagem , Fígado Gorduroso/metabolismo , Fígado Gorduroso/patologia , Feminino , Genótipo , Humanos , Hipobetalipoproteinemias/diagnóstico por imagem , Hipobetalipoproteinemias/metabolismo , Hipobetalipoproteinemias/patologia , Resistência à Insulina/genética , Masculino , Pessoa de Meia-Idade , Obesidade/genética , UltrassonografiaRESUMO
We herein present a case of fatty liver in a patient with heterozygous familial hypobetalipoproteinemia. A 34-yr-old male presented with abnormally elevated levels of transaminases and a fatty liver. He was asymptomatic, and the physical examination showed nothing remarkable. The serum total cholesterol, triglyceride, LDL-cholesterol, and apolipoprotein B levels all ranged from low normal to one-half normal. His other laboratory data were all in the normal range. The patient's body mass index measured was 25.7 kg/m2, and he did not demonstrate obesity. He had no history of alcohol consumption. It was thus thought that the fatty liver in this case might be associated with heterozygous hypobetalipoproteinemia. Heterozygous hypobetalipoproteinemia with a bright liver by ultrasound was also found in several of the patient's family members. Based on these rare findings, heterozygous hypobetalipoproteinemia should thus be considered as a possible cause in patients presenting with an unexplained fatty liver.