Heterogeneidad clínica y genética de la hipobetalipoproteinemia

Molecular analysis of APOB, SAR1B, ANGPTL3, and MTTP in patients with primary hypocholesterolemia in a clinical laboratory setting: Evidence supporting polygenicity in mutation-negative patients

“…Although the study actually resulted from an unprogrammed clinical practice setting, it constitutes the largest experience published in relation to the genetic diagnosis of primary HBL in Spain. The most recent genetic studies in Spanish patients presenting with low LDLc described the clinical and genetic heterogeneity of a total of five patients with FHBL1 33,34 . The benefits of knowing the patient genotype include identification of additional family members as well as appropriate clinical follow-up and treatment, which includes adherence to a low-fat diet and supplementation with essential fatty acids and fat soluble vitamins.…”