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Article

Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants.

Arquivos brasileiros de cardiologia - 1 Sept 2020

Pamplona-Cunha Heloisa, Medeiros Marcela Freitas, Sincero Thaís Cristine Marques, Back Isabela de Carlos, Silva Edson Luiz da

Abstract excerpt

Familial hypercholesterolemia (FH) is a genetic disease caused by a primary defect in the LDL-receptor gene. Distinct variants in the same gene characterize a compound heterozygote, but little is known about the phenotypes of the carriers. Therefore, herein, we describe the cascade screening of a Brazilian family with this characteristic. The index case, a 36-year-old male, had a total cholesterol level of 360...

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Identifiers

PMID: 33027386
DOI: 10.36660/abc.20190582
PMCID: PMC9363081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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