by Imperial College London
Credit: Unsplash/CC0 Public Domain
A new report has highlighted the late diagnoses and undertreatment of a genetic condition which causes cholesterol levels to soar.
Familial hypercholesterolaemia (FH) is an inherited condition affecting as many as 1 in 300 people around the world, thus it may affect 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.
This puts them at greater risk of cardiovascular disease if they are not treated with cholesterol-lowering drugs, such as statins.
In the most accurate global snapshot to date 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 today in 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).
Dr. Antonio Vallejo-Vaz, from Imperial’s School of Public Health and lead author of the report, said: “As an inherited condition, FH is diagnosed too late, on average in the mid-40s in the FHSC adult population, meaning that many years elapse before patients are identified and treatment is started.
“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.”
Delayed diagnosis
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, 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) – the recommended goal for LDL-C levels in FH patients—and women were less likely to achieve these levels than men.
Professor Kausik Ray, from Imperial’s School of Public Health, and who leads the FHSC registry, said: “The challenges of FH were highlighted by the World Health Organization (WHO) Report on FH in 1998. However, progress in implementing the recommendations to address these challenges has been limited.
“First data from the FHSC provide a baseline for current FH care worldwide, critical to understanding the changes needed in public health policy in all WHO regions.”
“Over 20 years on from the WHO report, these first data from our global FHSC registry show that there is much to do in all world regions to improve FH care.
“Action is also needed to correct disparities in treatment between men and women. Findings from this unique registry are crucial for driving improvement in health policy for this common inherited condition across the globe, the mission of the FHSC.”
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.
The report authors call for renewed efforts for public health policy for screening for FH in order to identify affected family members and start lipid-lowering therapies earlier.
The research was funded through investigator-initiated research grants from Pfizer, Amgen, Merck Sharp & Dohme, Sanofi–Aventis, Daiichi Sankyo, and Regeneron.
This article is based on materials from the European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration.
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