Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.

doi:10.1016/j.jacl.2025.08.020

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Article

Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.

Journal of clinical lipidology - 1 Jan 2025

Alves Ana Catarina, Chora Joana Rita, Miranda Beatriz, Medeiros Ana Margarida, Graça Rafael, Bañares Virginia G, Araujo Maria Beatriz, Vilagut Ferrán Trías, Soler Cristina, Meavilla Silvia, Toledo Maria J Benitez, Volpe Camila Garcia, Reyes Ximena, Dell'Oca Nicolás, Martins Paula, Marado Diana, Vilarinho Laura, Dias Aureliano Jorge, Ferreira Ana Cristina, Padeira Gonçalo, Casañas Marta, Alegre-González Diana, Lozano José Mosquera, Aguiar Patrício, Gonçalves Filipa Sousa, Ernaga Ander, Apellaniz-Ruiz Maria, Rubi Rodrigo, Figueroa Nahún Muñoz, Vasquez Norma Alejandra, Valdivielso Pedro, Bourbon Mafalda

Abstract excerpt

BACKGROUND: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in...

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Identifiers

PMID: 41130816
DOI: 10.1016/j.jacl.2025.08.020

Genes

ABCG5
FH
ABCG8

Provenance

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