
September 24: bringing attention to on an inherited metabolic disorder
September 24 marks the global Familial Hypercholesterolaemia (FH) Awareness Day,¹ a critical initiative dedicated to raising awareness of a genetic disorder that remains frequently underdiagnosed in routine clinical practice. Characterised by a lifelong elevation of low-density lipoprotein cholesterol(bad cholesterol) present from birth, FH carries a heightened risk of myocardial infarction, coronary heart disease and sudden cardiac death, driven by this chronic hypercholesterolaemia.²,³
The Silent Epidemic: Underdiagnosed and Undertreated
Diagnosing FH remains a considerable challenge.4 Despite affecting approximately 1 in 200 to 250 individuals3. Translating to roughly 2 million adults and 500,000 children in Europe; only about 5% of these children are diagnosed in time.
The median age for diagnosis is 44 years and only 2% of the adults are diagnosed before the age of 18 years, when atherosclerotic cardiovascular disease has already been developed.²,⁴
Crucially, diagnosis is only half the battle: real world registries has shown fewer than 3% of patients currently achieve their recommended LDL-C target values.⁴ Because FH progresses without symptoms, this lifelong exposure silently drives premature heart disease if left untreated.⁴
Turning the tide: how readily FH can be identified
The reassuring reality is that FH can be identified through a simple blood test, combined with an evaluation of family history, and confirmed through genetic testing.5
Clinicians should be alert to the two principal clinical indicators of FH6:
- Elevated LDL-C levels that do not respond to diet and exercise alone.
- A family history of premature heart disease or early heart attacks.
Menarini Group’s commitment to cardiovascular health
At Menarini Group cardiovascular health is at the heart of what we do. Awareness days are a vital reminder of how early risk detection can rewrite the story for patients and their families.
This FH Awareness Day, we encourage everyone to look into their family health history. Talk to your doctor, check your cholesterol levels, and help raise awareness to ensure earlier diagnosis for this silent genetic condition.
IM-08-2026
Sources:
1. Family Heart Foundation. FH awareness day. Available at: https://familyheart.org/fh-awareness-day - Last accessed June 2026. 2. Albert W, et al. European Heart Journal, 2026; ehag382
3. Kalia I, et al. J Clin Transl Sci. 2023 Apr 5;7(1):e92.
4. Arnold N, Koenig W. Rev Cardiovasc Med. 2023 Aug 17;24(8):236. 5. Family Heart Foundation. Familial Hypercholesterolemia. Available at: https://familyheart.org/familial-hypercholesterolemia — Last accessed June 2026.
6. Family Heart Foundation. Diagnosing Familial Hypercholesterolemia. Available at: https://familyheart.org/diagnosing-familial-hypercholesterolemia — Last accessed June 2026.