Heterozygous familial hypercholesterolemia [HeFH]

This code identifies a genetic disorder characterized by significantly elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, leading to premature atherosclerotic cardiovascular disease. It results from a mutation in one of several genes responsible for clearing LDL-C from the bloodstream, most commonly the LDL receptor gene.

Assign this code when documentation explicitly states a diagnosis of heterozygous familial hypercholesterolemia. This diagnosis is typically confirmed through genetic testing or clinical criteria such as the Dutch Lipid Clinic Network (DLCN) criteria, along with a family history of early cardiovascular disease or hypercholesterolemia.

• Distinguish from homozygous familial hypercholesterolemia (HoFH), which has a separate and more severe code.
• Ensure documentation specifies "heterozygous" to support this specific code.
• Code any associated cardiovascular complications (e.g., coronary artery disease, myocardial infarction) as secondary diagnoses.