Jacksonville, FL – Thursday, January 29, 2026 – Approximately one in 311 people worldwide lives with familial hypercholesterolemia (FH), a surprisingly common genetic condition that dramatically elevates the risk of early heart disease, yet remains largely undiagnosed.
FH, characterized by lifelong high levels of low-density lipoprotein cholesterol (LDL-C), often goes unnoticed, leaving individuals vulnerable to preventable heart attacks and strokes. Today, experts released updated guidance aimed at changing that. The recommendations, more than a decade in the making, reflect significant advances in genetic testing, imaging techniques, and available therapies.
“Familial hypercholesterolemia is one of the most common and hazardous genetic conditions we see, yet it remains profoundly underdiagnosed and undertreated,” said Zahid Ahmad, MD, lead author of the updated guidance. “with the tools we have today, premature cardiovascular events in people with FH are largely preventable –
What are the optimal LDL-C levels for someone with familial hypercholesterolemia? The updated guidance provides updated LDL-C treatment targets for both preventing initial heart problems and preventing further issues in those who’ve already experienced a cardiovascular event, acknowledging the high lifetime risk associated with FH.
anne C. Goldberg, MD, Chief Science Officer of the institution issuing the guidance, emphasized the lifelong nature of FH. “this document underscores a simple but urgent message: familial hypercholesterolemia is a lifelong condition that requires lifelong attention,” she said. “Early diagnosis – ideally beginning in childhood – combined with sustained LDL-cholesterol lowering can dramatically reduce morbidity and mortality.”
Clinicians are now encouraged to rely on a more holistic assessment, incorporating clinical judgment, family history, LDL-C levels over time, and appropriate imaging to determine the best course of treatment. The guidance highlights that a personalized approach is crucial for effectively managing FH.
By providing clinicians with these updated, evidence-based recommendations, the goal is to improve detection rates, optimize treatment plans, and ultimately lessen the substantial burden of cardiovascular disease linked to familial hypercholesterolemia.
The full consensus document, “Update on Familial Hypercholesterolemia: an Expert Clinical Consensus,” is available open access in the Journal of Clinical Lipidology here.
A CME-accredited podcast featuring several authors discussing the key updates and clinical implications is available here.
