Homozygous familial hypercholesterolemia [HoFH]

This code identifies a severe, inherited disorder characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) from birth. It results from inheriting two abnormal copies of genes involved in LDL-C metabolism, leading to aggressive and premature cardiovascular disease.

Use this code when documentation explicitly states a diagnosis of homozygous familial hypercholesterolemia. This typically involves genetic testing confirmation or a clinical diagnosis based on severely elevated LDL-C levels (often >500 mg/dL) and a family history consistent with HoFH.

• Ensure the documentation specifies "homozygous" to differentiate from heterozygous familial hypercholesterolemia (E78.01).
• Do not use this code for general hypercholesterolemia or other forms of dyslipidemia without clear documentation of HoFH.
• Consider co-reporting codes for associated cardiovascular complications, such as atherosclerosis or myocardial infarction, if present.