Hypercholesterolemia Autosomal Dominant 3 C1863551
A genetic condition causing severely high LDL cholesterol due to a dominant gene mutation. It often runs in families and increases early heart disease risk. Treatment requires lifelong cholesterol-lowering medication and heart-healthy diet.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Premature cardiovascular disease
Elevated LDL cholesterol
(cardiovascular)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Tendon xanthomas
(integumentary)Corneal arcus
(ophthalmic)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
High-Intensity Statin Therapy
HMG-CoA reductase inhibitors as first-line therapy to significantly reduce LDL cholesterol levels and cardiovascular risk in familial hypercholesterolemia.
LDL-Lowering Diet
Comprehensive heart-healthy diet emphasizing low saturated fat, low cholesterol, high fiber intake with plant sterols/stanols for additional LDL reduction.
Additional treatment options
LDL Apheresis
Weekly or biweekly extracorporeal LDL removal for patients with severe FH who fail to reach targets with maximum pharmacotherapy.
procedurePCSK9 Inhibitor Therapy
Monoclonal antibodies that dramatically lower LDL by increasing LDL receptor recycling when added to statin therapy.
medicationAerobic Exercise Program
Regular moderate-to-vigorous physical activity to improve lipid profiles, endothelial function, and overall cardiovascular health.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Hypercholesterolemia Autosomal Dominant 3 C1863551?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Hypercholesterolemia Autosomal Dominant 3 C1863551. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy