Genetically linked high cholesterol often diagnosed too late

Oct. 13, 2021

People with a genetic condition that is linked to high cholesterol are often diagnosed late and undertreated, causing cholesterol levels to soar, a new study learned.

Familial hypercholesterolaemia (FH) is an inherited condition affecting as many as 1 in 300 people around the world, or more than 25 million people around the world. It can affect otherwise healthy individuals, irrespective of their lifestyle, causing them to have higher than normal levels of LDL cholesterol from birth.

In a global snapshot of FH and how it is managed, investigators led by researchers at Imperial College London have highlighted how the condition is being diagnosed too late in life, that greater use of intensive cholesterol-lowering drugs is needed, and that the diagnosis and treatment for women is falling behind that of men.

Their findings, published The Lancet, are the first to come from a global registry of more than 42,000 adult patients with FH from 56 countries, developed by the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC).

Antonio Vallejo-Vaz, from Imperial’s School of Public Health and lead author of the report, said, "Late diagnosis also potentially misses out on opportunities to address other cardiovascular risk factors which become more prevalent with increasing age. Identification of FH must be improved to detect those affected much earlier.”

Among their findings, researchers found that FH diagnosis is usually delayed, with less than half of adult patients (about 40%) under 40 years of age when diagnosed.

The registry shows that among approximately 30,000 adults for whom there is data, the median age of diagnosis was 44.4 years old, with one in six already having heart disease at entry to the registry.

Among those patients on lipid-lowering therapy (59.9% of registry), most were on a statin (81%).

However, few were on the highest doses of statins (which may deliver the greatest benefit for FH) and only about one in five were on a combination of lipid-lowering therapies.

Compared with men, women were less likely to receive the highest doses of statins or combination therapy, despite having higher LDL-C levels from age 50 years.

Overall, less than 3% of patients on treatment attained LDL-C levels below 1.8 mmol/L (<70 mg/dL), which is the recommended goal for LDL-C levels in FH patients, and women were less likely to achieve these levels than men.

According to the researchers, the FHSC report reinforces the value of early screening of family members when a person is diagnosed with FH (called an index case). Compared with index cases, individuals identified by family screening tended to be younger, had lower untreated LDL-C levels (by about 1.55 mmol/L or 60 mg/dL), and were less likely to have other cardiovascular risk factors such as high blood pressure or diabetes, or clinical coronary artery disease.

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