Familial hypercholesterolemia (FH), with a prevalence of 0.2%, is a common autosomal dominant disorder of lipoprotein metabolism. The hallmark of the disease is a severely elevated total and low-density lipoprotein (LDL) cholesterol level, which predisposes to premature cardiovascular disease. The molecular basis of FH is a vast array of more than 600 mutations in the LDL receptor gene. Each country seems to have its own specific panel of LDL receptor gene mutations, but many mutations are shared by different countries, an observation which can be explained in some cases by historical or demographic conditions. The disorder is severely underdiagnosed and undertreated in many countries, while identification and treatment of patients at a young age result in a considerable health benefit. For this reason a global case-finding programme, based on family investigation and sometimes assisted by genetic testing, was established.
In: Wilemon , K A , Patel , J , Aguilar-Salinas , C , Ahmed , C D , Alkhnifsawi , M , Almahmeed , W , Alonso , R , Al-Rasadi , K , Badimon , L , Bernal , L M , Bogsrud , M P , Braun , L T , Brunham , L , Catapano , A L , Čillíková , K , Corral , P , Cuevas , R , Defesche , J C , Descamps , O S , De Ferranti , S , Eiselé , J L , Elikir , G , Folco , E , Freiberger , T , Fuggetta , F , Gaspar , I M , Gesztes , Á G , Grošelj , U , Hamilton-Craig , I , Hanauer-Mader , G , Harada-Shiba , M , Hastings , G , Hovingh , G K , Izar , M C , Jamison , A , Karlsson , G N , Kayikçioǧlu , M , Koob , S , Koseki , M , Lane , S , Lima-Martinez , M M , López , G , Martinez , T L , Marais , D , Marion , L , Mata , P , Maurina , I , Maxwell , D , Mehta , R , Nordestgaard , B G & Global Familial Hypercholesterolemia Community 2020 , ' Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia : A Global Call to Action ' , JAMA Cardiology , vol. 5 , no. 2 , pp. 217-229 . https://doi.org/10.1001/jamacardio.2019.5173
Importance: Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. Observations: In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific ...