Research Topic · Peer-Reviewed

Familial Hypercholesterolemia

Familial hypercholesterolemia is an inherited genetic disorder characterized by abnormally high levels of low-density lipoprotein cholesterol in the blood from early life, caused most commonly by mutations affecting the LDL receptor and related genes that govern cholesterol clearance. Because affected individuals of…

Curated from this journal's research 📚 3 peer-reviewed articles cited Cited 7× across the literature 🔖 ISSN 2326-0793 🗓 Reviewed July 2026

Overview

Familial hypercholesterolemia is an inherited genetic disorder characterized by abnormally high levels of low-density lipoprotein cholesterol in the blood from early life, caused most commonly by mutations affecting the LDL receptor and related genes that govern cholesterol clearance. Because affected individuals often have no overt symptoms, the condition is frequently underdiagnosed, yet the lifelong elevation of cholesterol substantially raises the risk of premature atherosclerosis, coronary heart disease, and stroke. Diagnosis combines clinical criteria, lipid measurement, and genetic testing, and management centers on early, intensive cholesterol-lowering through lifestyle measures and medications such as statins and newer lipid-lowering agents, together with cascade screening of relatives. As a disorder rooted in defined genetic variants and lipid metabolism, familial hypercholesterolemia is a natural subject for Proteomics and Genomics Research aimed at understanding inherited metabolic disease. Related peer-reviewed work in this collection includes a study on the molecular and metabolic pathogenesis of familial combined hyperlipidemia and its association with metabolic syndrome, addressing the genetic and metabolic mechanisms underlying inherited lipid disorders. This page gathers open-access research relevant to the genetics and metabolism of hereditary lipid abnormalities, supporting study of familial hypercholesterolemia and related cholesterol disorders.

Research published in this journal

3 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 3 articles above have been cited 7 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Familial Hypercholesterolemia, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Proteomics and Genomics Research (ISSN 2326-0793).

Journal editorial board
Sutopa Dwivedi · United States Liuyang Wang · United States Juan Sainz · Spain

This page summarises published research for orientation; it is not medical or professional advice.