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sitosterolemia

MeSH: C537345ORPHA: 2882

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

rare autosomal recessively inherited lipid metabolic disorder

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with sitosterolemia, sourced from HPO and Orphanet clinical annotations.

XanthomatosisSplenomegalyHemolytic anemiaGiant plateletsArthralgiaElevated circulating hepatic transaminase concentrationHypercholesterolemiaStomatocytosisPremature coronary artery atherosclerosisElevated circulating sitosterol concentrationMacrothrombocytopeniaAortic valve stenosisArthralgia/arthritis

Classification & Codes

MeSH Code

C537345

Orphanet Code

ORPHA:2882
sitosterolemia
MeSHC537345
OrphanetORPHA:2882
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO