Short answer · Medically reviewed summary · Last updated: 2026-05-08
Familial Hypercholesterolemia is clinically classified under ICD-10 code E78.01 (Familial hypercholesterolemia) and was historically categorized under ICD-9 code 272.0 (Pure hypercholesterolemia). These diagnostic codes are essential for healthcare providers to accurately document the condition and facilitate appropriate insurance coverage for lipid-lowering therapies. What is the clinical significance of these codes for Familial Hypercholesterolemia? The use of specific ICD-10 codes like E78.01 allows clinicians to distinguish Familial Hypercholesterolemia from common, lifestyle-related high cholesterol.
2 people with Familial Hypercholesterolemia have shared their first-person experience on this question at DiseaseMaps.
ICD10 code of Familial Hypercholesterolemia and ICD9 code
ICD-10 and ICD-9 codes for Familial Hypercholesterolemia, with classification details for clinicians, coders and patients.
Familial Hypercholesterolemia is clinically classified under ICD-10 code E78.01 (Familial hypercholesterolemia) and was historically categorized under ICD-9 code 272.0 (Pure hypercholesterolemia). These diagnostic codes are essential for healthcare providers to accurately document the condition and facilitate appropriate insurance coverage for lipid-lowering therapies.
What is the clinical significance of these codes for Familial Hypercholesterolemia?
The use of specific ICD-10 codes like E78.01 allows clinicians to distinguish Familial Hypercholesterolemia from common, lifestyle-related high cholesterol. Because Familial Hypercholesterolemia is a genetic condition that causes dangerously high levels of LDL cholesterol from birth, precise coding ensures that patients have access to specialized treatments, such as PCSK9 inhibitors, which might otherwise be restricted under generic hyperlipidemia codes.
How is Familial Hypercholesterolemia inherited?
Familial Hypercholesterolemia is typically inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent is affected. While the ICD-10 code provides the medical framework, clinical genetic testing is often required to confirm the specific mutation in genes such as LDLR, APOB, or PCSK9.
What are the diagnostic criteria for Familial Hypercholesterolemia?
Diagnosis is usually based on a combination of clinical scoring systems and biochemical testing. Key indicators include:
- Untreated LDL-C levels greater than 190 mg/dL in adults.
- Presence of tendon xanthomas (cholesterol deposits) in the patient or first-degree relatives.
- Premature cardiovascular disease occurring before age 55 in men or 60 in women.
- A documented family history of high cholesterol or early heart attacks.
Currently, 14 people with Familial Hypercholesterolemia have joined the DiseaseMaps.org community to share their experiences and navigate the complexities of long-term management.
Next steps
- Consult a lipidologist or cardiologist to discuss your specific ICD-10 documentation.
- Undergo cascade screening to identify other affected family members.
- Join the DiseaseMaps.org community to connect with others living with Familial Hypercholesterolemia.
- Explore clinical registries or trials via the Familial Hypercholesterolemia Foundation.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Familial Hypercholesterolemia
- Orphanet (ORPHA: 425): Familial Hypercholesterolemia
- OMIM (Online Mendelian Inheritance in Man): #143890
- The Familial Hypercholesterolemia Foundation (thefhfoundation.org)
Posted Jun 6, 2017 by Sarahcnill 2000
And ICD10 is 78.01
Before 2017 there was no code specifically for FH
Posted Sep 10, 2017 by Colleen 2000
