Scholarlink

Introduction <p>Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the <i>ABCG5</i> or <i>ABCG8</i> genes, which encode subunits of transporters belonging to the ABC (ATP-Binding Cassette) protein family, responsible for the efflux of sterols from enterocytes and hepatocytes into the intestinal lumen. Clinically, it presents with elevated plasma plant sterol levels, dyslipidemia, cutaneous or tendon xanthomas, and premature atherosclerosis.</p> Case presentation <p>We report the case of an 8-year-old boy with dizziness and photopsias since age 6, severe dyslipidemia without obesity or a family history of cardiovascular disease and hematological findings of non-autoimmune hemolytic anemia. The lipid profile showed persistently elevated total cholesterol and LDL. Molecular analysis revealed two compound heterozygous variants in the <i>ABCG8</i> gene, confirming the diagnosis of sitosterolemia. Treatment with ezetimibe and a plant sterol-restricted diet was initiated, with a favorable biochemical and clinical response.</p> Conclusions <p>This case highlights the clinical relevance of sitosterolemia in pediatrics and underscores the value of genetic diagnosis as a key tool in precision medicine applied to hereditary dyslipidemias.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Sitosterolemia with double variant in ABCG8 gene: a case report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年6月2日

查看全文
  • Sara Isabel Noreña Gómez,
  • Aura María Salazar-Solarte,
  • María del Pilar Pereira Gómez,
  • Susana Gómez Rojas,
  • Juan Manuel Alfaro Velásquez

摘要

Introduction

Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to the ABC (ATP-Binding Cassette) protein family, responsible for the efflux of sterols from enterocytes and hepatocytes into the intestinal lumen. Clinically, it presents with elevated plasma plant sterol levels, dyslipidemia, cutaneous or tendon xanthomas, and premature atherosclerosis.

Case presentation

We report the case of an 8-year-old boy with dizziness and photopsias since age 6, severe dyslipidemia without obesity or a family history of cardiovascular disease and hematological findings of non-autoimmune hemolytic anemia. The lipid profile showed persistently elevated total cholesterol and LDL. Molecular analysis revealed two compound heterozygous variants in the ABCG8 gene, confirming the diagnosis of sitosterolemia. Treatment with ezetimibe and a plant sterol-restricted diet was initiated, with a favorable biochemical and clinical response.

Conclusions

This case highlights the clinical relevance of sitosterolemia in pediatrics and underscores the value of genetic diagnosis as a key tool in precision medicine applied to hereditary dyslipidemias.