Familial Hypercholesterolemia: Still an Enigma

Department

Internal Medicine

Additional Department

Cardiology

Document Type

Article

Publication Title

JACC. Case Reports

Abstract

BACKGROUND: Familial hypercholesterolemia (FH) is a genetic condition characterized by high levels of low-density lipoprotein (LDL) and early atherosclerotic cardiovascular disease.

CASE SUMMARY: Our patient was a 61-year-old woman who had been referred to a cardiologist for LDL levels > 200 mg/dL for more than a decade. She tested positive for a pathogenic LDLR mutation and was diagnosed with FH. She then underwent risk stratification with coronary computed tomography angiography and ultrasound of the carotid arteries, both of which showed no atherosclerotic disease. She continues to do well off statins.

DISCUSSION: Coronary artery calcifications can be seen as early as 11 to 23 years of age in patients with FH. Our patient did not have any evidence of atherosclerotic disease, nor did she have a family history of cardiovascular disease, and it was thought that she may have a protective factor affecting LDL metabolism.

TAKE-HOME MESSAGE: Patients with heterozygous FH can have absence of atherosclerosis despite lifelong severely elevated LDL levels.

First Page

104755

DOI

10.1016/j.jaccas.2025.104755

Volume

30

Issue

25

Publication Date

8-27-2025

PubMed ID

40883070

Link to Full Text

Share

COinS