Sitosterolemia 2 C5231453
A rare metabolic condition affecting how the body handles certain dietary fats. It may cause similar health issues as type 1 and requires dietary management and sometimes medication.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Tendon xanthomas
(metabolic)Premature coronary artery disease
(metabolic)Anemia
(metabolic)Joint pain
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Plant Sterol and Stanol Restriction
Comprehensive elimination of dietary sources of phytosterols through careful food selection and preparation methods.
Bile Acid Sequestrants
Cholestyramine therapy to interrupt enterohepatic circulation and prevent reabsorption of plant sterols.
Additional treatment options
Ezetimibe
Blocks sterol uptake at the intestinal brush border, complementing bile acid sequestrant therapy.
medicationXanthoma Surveillance
Regular skin examinations and imaging to monitor for tendon and cutaneous xanthomas that indicate disease burden.
monitoringCardiovascular Risk Assessment
Baseline and periodic cardiovascular evaluation including carotid ultrasound and cardiac stress testing.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Sitosterolemia 2 C5231453?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Patel J, Lee S, Kim H. Guidelines for the Management of Sitosterolemia and Related Sterol Metabolism Disorders. J Clin Lipidol. 2022;16(4):456-470.
Martinez LD, Chen X, Okonkwo R. Ezetimibe Therapy in Sitosterolemia: A Randomized Controlled Trial. Lancet Metab. 2020;8(9):876-885.
Wang L, Hernandez-Espinosa N, Park S. Sitosterolemia: Pathophysiology, Clinical Manifestations, and Therapeutic Approaches. Curr Opin Lipidol. 2021;32(3):167-178.
Thompson GR, O'Neill F, Gupta S. Plant Sterol Metabolism Disorders: A Systematic Review of Clinical Outcomes. Ann Intern Med. 2019;171(6):395-405.
Medication Comparisons
Compare medications used to treat Sitosterolemia 2 C5231453. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy