Endocrine Abstracts

Introduction: Primary hypobetalipoproteinemia corresponds to a series of congenital disorders that have a variable incidence from 3.2% to less than 1 in 1 million, depending on the type of genetic mutation. The diseases that comprise it occur due to different types of mutations in genes that will encode important proteins at different stages of lipid metabolism. Individuals with determinant mutations of severe phenotypes, such as Bassen-Kornzweig syndrome, as known as Abetalipoproteinemia (ABL), chylomicron retention disease (CRMD), homozygous familial hypobetalipoproteinemia (FHBL), may present manifestations even during childhood with a picture of malabsorption of fats with vomiting, steatorrhea and weight-height deficit, and later on, they progress with progressive affections resulting from deficiency of fat-soluble vitamins, such as retinal degenerations and neuropathies. Heterozygous individuals are often asymptomatic although they may develop fatty liver disease and eventually some vitamin deficiencies.

Case report: A 20-years-old male patient was referred to endocrinology service due to a lipogram alteration. Asymptomatic, reported having a balanced diet, without being submitted to any type of diet. Maintained a preserved intestinal habit, with no significant history of diarrheal conditions. Laboratory tests showed total cholesterol 61 mg/dl, HDL 30.4 mg/dl, LDL 17.4 mg/dl. VLDL 10.6 mg/dl and triglycerides 53 mg/dl are associated with a deficiency of fat-soluble vitamins (vitamin D, E, and K). Apolipoprotein B dosage was 24 mg/dl (RV: 55 to 155 mg/dl) and also had an abdominal ultrasound with evidence of mild hepatic steatosis.

Conclusion: Hypobetaliproteinemia corresponds to a heterogeneous group of diseases. Most of them do not cause serious manifestations and go unnoticed. However, even these can lead to late repercussions such as liver disease and hypovitaminosis. Therefore, it is important to be attentive to patients with low levels of LDL and total cholesterol, avoiding dismissing these findings as “benign” changes. Despite this, it must be recognized that, possibly, these patients have some cardiovascular protection due to low LDL titers. The severe forms, despite being very rare, lead to evident clinical manifestations in the first years of life, showing the importance of lipids for humans.