Living with Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
A rare condition with high LDL cholesterol that does not respond well to usual medicines, plus gallstones and artery disease.
Understanding Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
It causes high LDL cholesterol that resists treatment with statin medicines (HMG-CoA reductase inhibitors), high triglycerides, and slower removal of bile acids. Gallstones and artery disease in the heart and limbs often occur at a younger age. It often shows in adults.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hardening of the arteries (atherosclerosis)
- Heart artery plaque (coronary artery disease)
- Cholesterol gallstones
- Liver inflammation
- Obesity
- Slowed bile flow (cholestasis)
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.
- 3Consider genetic testing
Changes in CYP7A1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the CYP7A1 gene cause this condition. GARD doesn't list an inheritance pattern.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency.
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