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Related Experiment Video

Updated: Jan 3, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Autosomal recessive hypercholesterolemia: Case report.

Zaneta Petrulioniene1, Urte Gargalskaite1, Violeta Mikstiene2

  • 1Vilnius University Faculty of Medicine, Vilnius, Lithuania; Clinic for Cardiovascular Disease, Center of Cardiology and Angiology, Vilnius, Lithuania.

Journal of Clinical Lipidology
|November 18, 2019
PubMed
Summary

Autosomal recessive hypercholesterolemia (ARH) is a rare, severe genetic disorder causing high LDL-C and premature cardiovascular disease. Early genetic testing and registries are crucial for timely diagnosis and treatment of ARH and familial hypercholesterolemia (FH).

Keywords:
Autosomal recessive hypercholesterolemiaFamilial hypercholesterolemiaGenetic testingPremature cardiovascular disease

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Area of Science:

  • Genetics
  • Cardiology
  • Endocrinology

Background:

  • Autosomal recessive hypercholesterolemia (ARH) is a rare monogenic disorder (<1 in 1,000,000) characterized by extremely high LDL-C levels.
  • Untreated ARH leads to aggressive, premature atherosclerotic cardiovascular disease.
  • Lowering LDL-C is the primary therapeutic goal.

Observation:

  • A 29-year-old male from a nonconsanguineous Lithuanian family presented with symptoms of severe hypercholesterolemia since childhood.
  • Clinical signs included Achilles tendon nodules and xanthomas, with diagnosis of familial hypercholesterolemia (FH) at age 12.
  • A novel homozygous LDLRAP1 gene variant (NM_015627.2:c.488A>C) was identified at age 28.

Findings:

  • The identified LDLRAP1 variant is novel and not previously reported in scientific literature or population databases.
  • The patient required intensive treatment including apheresis, rosuvastatin, and ezetimibe due to severe hypercholesterolemia.
  • Genetic testing confirmed the homozygous variant causing ARH.

Implications:

  • ARH is a severe condition often underdiagnosed due to limited genetic testing availability.
  • Cascade screening and genetic counseling for ARH differ from FH, as carriers lack significant LDL-C elevation.
  • Wider genetic testing, national registries, and screening programs are essential for early detection, prognosis, and effective management of ARH and FH.