Familial Hypercholesterolemia

• Common name(s): Familial Hypercholesterolemia (FH)
• Medical terms: Hyperlipidemia, Type IIa

Summary

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, particularly low-density lipoprotein (LDL), which can lead to an increased risk of heart disease.

Causes

• Genetics: Mutations in the LDLR gene that encodes the LDL receptor, responsible for removing LDL cholesterol from the bloodstream.

Risk Factors

• Family history: Having a parent with FH significantly increases risk.
• Genetic predisposition: Inherited as an autosomal dominant trait.

Symptoms

• Elevated cholesterol levels: Often without symptoms.
• Physical signs: Xanthomas (cholesterol deposits in the skin) and corneal arcus (cholesterol deposit around the cornea).

Diagnosis

• Blood tests: To measure levels of LDL cholesterol.
• Genetic testing: To identify mutations in the LDLR gene.

Treatment Options

• Medications: Statins to lower cholesterol levels, bile acid sequestrants, and cholesterol absorption inhibitors.
• LDL apheresis: A procedure to remove LDL cholesterol from the blood.
• Lifestyle changes: Diet and exercise to help manage cholesterol levels.

Prognosis and Follow-Up

• Outcomes: With treatment, risk of heart disease can be reduced significantly.
• Follow-Up: Regular monitoring of cholesterol levels and heart health is important.

Complications

• Heart disease: Increased risk of coronary artery disease, heart attack, and stroke if untreated.

Lifestyle & Prevention

• Diet: A low-fat, high-fiber diet can help manage cholesterol.
• Exercise: Regular physical activity aids in lowering LDL levels.
• Preventive measures: Screen family members as early detection can improve management.

When to Seek Professional Help

• If diagnosed with high cholesterol levels at an early age.
• Presence of xanthomas or chest pain, indicating potential heart complications.

Additional Resources

• American Heart Association: heart.org
• FH Foundation: thefhfoundation.org

Tips for Medical Coders

• Ensure the use of the correct code E78.01 for familial hypercholesterolemia.
• Verify family history and genetic testing results to support coding.
• Avoid coding errors by distinguishing FH from secondary hyperlipidemia conditions.