Hypercholesterolemia Familial 1 C0745103
An inherited disorder causing extremely high cholesterol from birth due to a faulty gene. Without treatment, it significantly raises the risk of early cardiovascular disease. Lifelong medication and monitoring are essential.
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
Angina pectoris
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Tendinous xanthomas
(dermatologic)Aortic stenosis
(cardiovascular)Peripheral arterial disease
(cardiovascular)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
HMG-CoA reductase inhibitors (Statins)
First-line pharmacotherapy for lowering LDL cholesterol by inhibiting hepatic cholesterol synthesis. Statins reduce cardiovascular risk in familial hypercholesterolemia patients and are typically continued indefinitely.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
LDL Apheresis
Extracorporeal procedure that selectively removes LDL particles from blood circulation. Used in homozygous FH patients who respond inadequately to maximal drug therapy.
Additional treatment options
Therapeutic Dietary Changes
Structured low-cholesterol, low-saturated fat diet emphasizing plant sterols, soluble fiber, and omega-3 fatty acids. Dietary modifications complement pharmacotherapy and support overall cardiovascular health.
dietaryLipid Profile and Cardiac Monitoring
Regular monitoring of lipid panels, liver function tests, and cardiovascular imaging to assess treatment efficacy and detect subclinical atherosclerosis early.
monitoringWhen 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 Familial 1 C0745103?
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 Familial 1 C0745103. 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