Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review

• DOI: 10.1016/j.jacl.2022.07.008
• Publication Date: 2022-07-21T03:06:10Z
• Authors: Pablo Rodríguez d...; Pilar del Pino-Be...; Juan Jesús García...; Flora Sánchez-Jim...; Rosario Oliva-Rod...; Teresa Arrobas-Ve...; María Asunción Ma...
• Keywords: Hypobetalipoproteinemias; 0301 basic medicine; 03 medical and health sciences; Cholesterol; Hypobetalipoproteinemia, Familial, Apolipoprotein B; Humans; Female; Middle Aged; Apolipoproteins B; 3. Good health

Hereditary familial hypobetalipoproteinemia (FHBL) is a syndrome caused by variants in the APOB gene, that cause a defect in the secretion and mobilization of liver lipids to peripheral tissues, associated with the synthesis of truncated ApoB100 apolipoproteins. This condition causes significant reduction in total cholesterol (TC), low-density lipoproteins (LDL), very low-density proteins (VLDL) and serum triglyceride levels, with unchanged high-density lipoprotein (HDL) cholesterol levels. Herein we present the case of a middle-aged woman diagnosed with FHBL and hepatic steatosis, heterozygous for c.4698C>A; (p.Tyr1566Ter) variant in APOB. The variant presented herein showed high expressiveness in the two generations of individuals analyzed and has not yet being described in the medical literature. Early diagnosis and screening for associated metabolic comorbidities such as metabolic fatty liver disease and its subsequent progression to fibrosis are the two main goals in the treatment of this condition, in order to prevent medium to long term potential complications.