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Sitosterolemia-10 years observation in two sisters
Lara Veit1, Gabriella Allegri Machado1, Céline Bürer1
1Division of Metabolism and Children's Research Center University Children's Hospital Zurich Zurich Switzerland.
JIMD Reports
|August 9, 2019
Summary
Sitosterolemia, a rare metabolic disorder, involves elevated plant sterols due to transporter defects. Diet and ezetimibe effectively managed symptoms in two sisters over a decade.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia is common, often due to LDL-receptor mutations.
- Secondary hypercholesterolemia from phytosterol metabolism defects is rare and can be missed.
- Sitosterolemia is an autosomal recessive condition caused by defective ATP-binding cassette sterol transporters.
Observation:
- Two sisters presented with sitosterolemia, characterized by highly elevated plant sterol concentrations.
- The condition led to a wide range of clinical symptoms.
- Diagnosis was delayed, highlighting challenges in identifying this rare disorder.
Findings:
- Genetic mutations in the ATP-binding cassette sterol transporter were identified.
- Treatment with a plant lipid-lowering diet and ezetimibe significantly improved clinical and biochemical markers.
- Long-term follow-up over 10 years demonstrated sustained positive response to treatment.
Implications:
- Early diagnosis and intervention are crucial for managing sitosterolemia.
- Dietary modification and pharmacotherapy (ezetimibe) are effective treatment strategies.
- Understanding sterol transporter defects aids in diagnosing and treating dyslipidemias.
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