Familial hypercholesterolemia, unspecified

This code represents a genetic disorder characterized by significantly elevated levels of low-density lipoprotein (LDL) cholesterol from birth, leading to premature atherosclerosis and an increased risk of cardiovascular disease. It is inherited and results from defects in genes responsible for cholesterol metabolism.

Use this code when documentation indicates a diagnosis of familial hypercholesterolemia without further specification of the type (e.g., heterozygous, homozygous). This diagnosis is typically supported by a family history of high cholesterol and early cardiovascular events, along with persistently high LDL cholesterol levels.

• Do not use this code if the specific type of familial hypercholesterolemia (e.g., heterozygous, homozygous) is documented; instead, use the more specific codes E78.010 or E78.011.
• This code should be assigned as a primary diagnosis when the familial hypercholesterolemia is the reason for the encounter, or as a secondary diagnosis when it is a co-morbidity.
• Always review the medical record for any associated cardiovascular conditions, such as coronary artery disease, and code them accordingly.