Familial Hypercholesterolaemia (FH) is the most common of all severe familial disorders and its hallmark is high LDL-cholesterol in plasma. The disease is carried by one out of 200-300 persons in Europe – that is to say a total of about 2 million people in Europe carry FH. The disease is present from early childhood, but is carried without symptoms until the third or fourth decade in life, when heart disease will appear. If untreated, 50 percent of men will have had their first heart attack before the age of 50 years, and women before 55 years. To carry FH is to carry a ticking bomb that, if untreated, will cause cardiac disease or death.
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FH is underdiagnosed
Only in a few countries in Europe has FH been systematically sought for, and diagnosed. In most European countries only a few percent of FH patients are treated. The tool to find the patients is available and is easily applicable to everyday clinical practice. When one subject is diagnosed, a systematic search in their relatives will identify new patients carrying the disease. On an average 50 percent of first-degree relatives carry the disease, as it is inherited. Experience from, for example, the Netherlands, shows that this approach is effective in identifying subjects carrying FH.
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Heart disease can be prevented
If diagnosed early, treatment is available that will give back to subjects with FH a normal life expectancy. If diagnosed later in life, a dramatic improvement of disease and life expectancy can be obtained. The basic treatment with potent statins and ezetimibe will bring many patients’ cholesterol levels down to, or close to, the goals set in the guidelines. New drugs, called PCSK9 inhibitors, promise to give relief to even more patients with FH. At present, one of these is approved in Europe, others are undergoing approval.
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September 24 is FH-awareness day! What is your cholesterol?
Know your number!
Elisabeth K. Vesterbekkmo, PhD Candidate at CERG
Consensus papers:
Since 2013, the EAS Consenus Panel has published three Consensus Position papers in the area – on FH, HoFH, and Paediatric FH. Links to the papers themselves, and related commentary articles are given below.
Cardiac Exercise Research Group 