Heterozygous Familial Hypobetalipoproteinemia Detected During Periodic Examination in a Family Medicine Outpatient Clinic: A Case Report

Familial hypobetalipoproteinemia (FHBL) is a rare, genetically inherited cause of hypocholesterolemia. Although it usually presents asymptomatically, it can occasionally lead to clinical outcomes such as hepatic steatosis. In this case, a 37-year-old male patient presented to a family medicine outpatient clinic for a routine health check. His physical examination and vital signs were within normal limits. Laboratory investigations revealed markedly low LDL and total cholesterol levels and elevated triglycerides. Additionally, mild elevations in liver enzymes and grade 1–2 hepatic steatosis on abdominal ultrasonography were detected. A presumptive diagnosis of heterozygous familial hypobetalipoproteinemia was considered, and the patient was referred to the endocrinology clinic for further evaluation. This case demonstrates how periodic health screening in asymptomatic individuals can contribute to the early detection of rare metabolic disorders. Family physicians are competent in evaluating patients holistically and initiating appropriate referrals based on clinical and laboratory findings.

Keywords: Familial hypobetalipoproteinemia, hypocholesterolemia, hepatic steatosis, periodic health examination, family medicine, lipid disorders