Living with Sitosterolemia
A genetic condition in which plant fats build up in the blood and tissues, sometimes causing fatty skin bumps and joint pain.
Understanding Sitosterolemia
Sitosterol is one of the plant sterols, and its blood level can be 30 to 100 times normal. Cholesterol may also be raised, especially in some children. Signs can start early in life after plant-sterol foods are eaten, though some people have no symptoms. Fatty deposits can narrow the arteries from childhood. Yellowish growths (xanthomas) can appear on the skin and tendons, and joint stiffness and pain can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellow fatty bumps on the skin (xanthomas)
- Joint pain
- Early artery narrowing (atherosclerosis)
- Anemia from red blood cell breakdown
- Enlarged spleen
- Large, low platelets (macrothrombocytopenia)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Foundation of the National Lipid Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Foundation of the National Lipid Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation of the National Lipid Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition, but it doesn't list a gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: phytosterolemia; stsl
Patient organizations
- Foundation of the National Lipid AssociationSitosterolemia · United States
- Sitosterolemia FoundationSitosterolemia · United States
You are more than your diagnosis
Perspectives from people navigating life with Sitosterolemia.
Explore research for Sitosterolemia
Explore actively recruiting Sitosterolemia studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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