In a new study published in The Lancet, researchers highlighted the late diagnoses and undertreatment of a genetic condition that causes cholesterol levels to soar.
The study is from Imperial College London. One author is Antonio J. Vallejo-Vaz.
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 people, 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 study, the team 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 are falling behind that of men.
Their findings are the first to come from a global registry of more than 42,000 adult patients with FH from 56 countries.
The 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 the 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.
The team says 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 needs to be improved to detect those affected much earlier.
If you care about cholesterol and heart health, please read studies about why cholesterol-lowering drugs can cause muscle pain and findings of very high levels of ‘good’ cholesterol may be harmful.
For more information about heart health, please see recent studies about common cholesterol-lowering drugs linked to higher risks of diabetes, skin infections and results showing that this drug may increase “good” cholesterol in your body.
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