FH awareness week 2015 - What is FH? - Ελληνική Εταιρεία Αθηροσκλήρωσης

September 24 is FH-awareness day. All this week, in a series of newsletters, EAS will highlight the disease Familial Hypercholesterolaemia (FH), aiming to increase the knowledge of this common inherited disease in both Europe and USA, and focusing on the great need for early detection and treatment.

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% 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.

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% 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.

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.

Focus on FH

Programmes to find and treat subjects with FH should be initiated all over Europe. The tools are there to be used. The potential health benefits are huge, and the costs are low in relation to the number of lives saved. A European initiative headed by the European Atherosclerosis Society, called the FH-Studies Collaboration, is forming a network with almost all European countries to improve diagnosis and treatment of FH and to collaborate with governmental agencies in initiating local programmes. This also involves collaboration with national FH-patients organisations via a network of European patient organizations.

During FH awareness week we will highlight resources and materials available from EAS on Familial Hypercholesterolaemia (FH)

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.