E78.011
Heterozygous familial hypercholesterolemia [HeFH]
Clinical Classification Guidelines
Medical Intelligence & Overview
Heterozygous familial hypercholesterolemia (HeFH) is a hereditary condition characterized by high levels of cholesterol in the blood. This genetic disorder affects the body’s ability to remove low-density lipoprotein (LDL) cholesterol, often leading to increased risk of heart disease at an earlier age. People with HeFH typically inherit the condition from one parent and may have a family history of high cholesterol or heart problems.
Causes & Symptoms
Clinical Causes: Inherited genetic mutation affecting LDL cholesterol receptors Autosomal dominant inheritance pattern, meaning only one defective gene from either parent can cause the disorder Family history of high cholesterol levels or early heart disease
Key Symptoms: Elevated total cholesterol and LDL cholesterol levels Xanthomas: cholesterol deposits under the skin, appearing as yellowish bumps often on tendons or skin around the eyelids Corneal arcus: a grayish ring around the cornea of the eye Early signs of cardiovascular disease, such as chest pain or artery blockage, may emerge in some cases
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves blood tests to measure cholesterol levels, family medical history assessments, and physical examinations for xanthomas or other signs. Genetic testing can confirm specific mutations linked to HeFH. Physicians may also use lipid profiles to assess the severity and guide management strategies.
Treatment Protocols: Treatment focuses on lowering LDL cholesterol levels to reduce cardiovascular risks. Common approaches include:
Clinical Advice & FAQs
Billing Guidance
Is E78.011 a billable ICD-10 code?
Yes, E78.011 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E78.011?
Clinical documentation must specify the nature of Heterozygous familial hypercholesterolemia [HeFH] and any associated comorbidities for accurate reporting.
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