Within our network, we think locally, act globally. FHSC supports national coordinating centers in their efforts to implement tailored treatment strategies aligned with their country’s unique requirements, all with the goal of lessening the global burden associated with FH. It’s worth noting that each year, we present updates and new findings from these initiatives. During FH Week, we aim to spotlight the successful activities and publications that emerge from these ongoing activities.
Here you can find out more about FH-related national activities and recent developments:
Australia
What has been done recently?
a. Australian FH Summit, held annually (last year in Sydney, this year in Melbourne)
b. Australian and New Zealand Paediatric FH network working group (with representation in every state and territory)
c. National web-based FH registry with >45 sites across Australian and now with over 3000 participants
d. Official setup of an Australian national patient-led organisation: https://fhaustralia.org.au/
e. Successful projects and grants:
– Implementation of newborn genetic testing (TAG-NBS)
– Enhancing genetic cascade testing by general practice (EDIFICE)
– Enhancing detection and treatment of children with FH (FH in KIDS)
Publications:
a. Watts GF, Gidding SS, Hegele RA, Raal FJ, Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nature Reviews Cardiology. 2023 Dec;20(12):845-69.
b. Watts GF, Jones LK, Sarkies MN, Pang J, Gidding SS, Libby P, Santos RD. International Atherosclerosis Society Roadmap for Familial Hypercholesterolaemia. Global Heart. 2024;19(1).
c. Lan NS, Bajaj A, Watts GF, Cuchel M. Recent advances in the management and implementation of care for familial hypercholesterolaemia. Pharmacological research. 2023 Jul 17:106857.
d. Sarkies MN, Testa L, Best S, Moullin JC, Sullivan D, Bishop W, Kostner K, Clifton P, Hare D, Brett T, Hutchinson K. Barriers to and facilitators of implementing guidelines for detecting familial hypercholesterolaemia in Australia. Heart, Lung and Circulation. 2023 Nov 1;32(11):1347-53.
e. Page MM, Hardikar W, Alex G, Bates S, Srinivasan S, Stormon M, Hall K, Evans HM, Johnston P, Chen J, Wigg A. Long-term outcomes of liver transplantation for homozygous familial hypercholesterolaemia in Australia and New Zealand. Atherosclerosis. 2023 Dec 1;387:117305.
f. Watts GF, Tamehri Zadeh SS, Chan DC. ANGPTL3 as a therapeutic target for treating homozygous familial hypercholesterolaemia: a shot in the arm for evinacumab. European Heart Journal. 2024 Jun 10:ehae321.
g. Zadeh SS, Chan DC, Mata P, Watts GF. Coronary artery event-free or resilient familial hypercholesterolemia: what’s in a name?. Current Opinion in Endocrinology, Diabetes and Obesity. 2024:10-97.
h. Marquina C, Morton JI, Lloyd M, Abushanab D, Baek Y, Abebe T, Livori A, Dahal P, Watts GF, Ademi Z. Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review. PharmacoEconomics. 2024 Apr;42(4):373-92.
Greece
Established by the Hellenic Atherosclerosis Society (HAS) in 2016, the Hellenic Familial Hypercholesterolemia (HELLAS-FH) Registry is an innovative project advancing the understanding and management of Familial Hypercholesterolemia (FH) in Greece. Over 3,600 patients have been registered to date, with the number of contributing sites increasing to 25.
Recognizing the critical importance of follow-up data for monitoring disease progression and treatment efficacy, a dedicated person has recently been appointed to assist sites with uploading follow-up data to the FHSC website. This initiative addresses high workloads at some sites, ensuring timely and accurate data submission. Notably, over 1,000 registered patients have complete follow-up data available.
The HELLAS-FH registry not only prioritizes patient care but also contributes to research and clinical trials. In the past year, three additional publications have explored the association of FH with various factors including older age [Biomedicines. 2024, 12(1), 231], obesity [J Clin Lipidol. 2024 May-Jun;18(3)] and the presence of physical signs [J Cardiovasc Med (Hagerstown) 2024 May 1;25(5):370-378].
Efforts to enhance FH awareness and disseminate information to the public are underway, including the establishment of an informative website (www.hellasfh.gr) and the creation of social media pages on platforms such as Facebook (Hellas FH) and X (@hellasfh).
Publications:
Familial Hypercholesterolemia in the Elderly: An Analysis of Clinical Profile and Atherosclerotic Cardiovascular Disease Burden from the HELLAS-FH Registry Biomedicines. 2024, 12(1), 231.
Obesity and atherosclerotic cardiovascular disease in adults with heterozygous familial hypercholesterolemia: an analysis from HELLAS-FH registry
J Clin Lipidol. 2024 May-Jun;18(3):e394-e402.
Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia-The HELLAS FH Registry. J Cardiovasc Med (Hagerstown) 2024 May 1;25(5):370-378.
Hungary
The Hungarian Atherosclerosis Society created the website in 2016. The website provides information about FH for the average persons and detailed information for healthcare professionals. Part of the website is the FH registry, to which GPs can connect with a personalized user ID and enter their patients who fall into the probable, possible or definite FH category based on the Dutch criteria and send them to the regional lipid centers. In the regional lipid centers are the final diagnosis and initiation of appropriate therapy. So far, 450 patients have been registered. Two of the patients were homozygous, LDL and apoB mutations were detected in one patient, and the LDL receptor compound mutation was detected in three patients. The other patients are heterozygous. Patients receive maximally tolerated statin treatment if they do not reach the target value with this three-month treatment, statin+ezetimibe combination is used. If the target value is not reached even with this combination treatment, PCSK9 inhibitor treatment is provided in subsidized form for secondary prevention in patients whose LDL is above 1.8 mmol/l The organization of FH patients is the “SzívSN” National Patient Association, which, with its programs, supports the health-conscious behavior of FH patients and the effectiveness of lipid-lowering therapy. For those homozygous FH patients who do not reach the target value despite the previously mentioned treatment options, LDL apheresis is available in two centers.
Italy
To date, 59 lipid clinics nationwide participate in the Italian Familial Hypercholesterolaemia Registry (LIPIGEN). The LIPIGEN registry has collected data from more than 11,000 subjects with a clinical and/or genetic diagnosis of FH. Three out of four subjects underwent genetic testing, with confirmation of the presence of at least one pathogenic or probably pathogenic variant in the candidate genes in 68% of cases.
Currently, the Italian LIPIGEN (Lipid Transport Disorders Italian Genetic Network) FH registry includes data from over 11,000 individuals collected from 59 centres across the country.
To explore specific aspects of the disease, specialized subgroups have been established: the LIPIGEN Paediatric Group and the LIPIGEN Homozygous Familial Hypercholesterolemia Group. The former has recently focused on follow-up data from paediatric patients. Analysis of these data has provided insights into the treatment strategies in children with FH. The median time from diagnosis to treatment initiation was 12 months, with a median age of 13 years at the start of treatment. The time to treatment initiation decreased with increasing age and higher LDL-C levels. Notably, for comparable LDL-C levels, genetic confirmation of the disease was associated with earlier treatment initiation. Among patients who started treatment, approximately 60% were prescribed statins (mainly pravastatin and atorvastatin).
The LIPIGEN Homozygous FH Group has enabled a comprehensive analysis of the clinical history of 139 HoFH patients. The data showed that the efficacy of lipid-lowering therapies has improved significantly in the last years. By the last follow-up visit, 16% of patients were receiving quadruple therapy, leading to a 58% reduction in LDL-C levels. Moreover, the annual rate of major cardiovascular events during the 5-year follow-up was significantly lower compared to the period before the baseline visit, indicating better cardiovascular outcomes for HoFH patients upon treatment.
D’Erasmo L, Bini S, Casula M, Gazzotti M, Bertolini S, Calandra S, Tarugi P, Averna M, Iannuzzo G, Fortunato G, Catapano AL, Arca M; LIPIGEN HoFH group. Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry. Eur J Prev Cardiol. 2024 Jun 3;31(8):1038-1047
Mexico
For 2024-2025 the FH Mexican Registry has been performing different activities from which we would like to highlight the following. As every year we have joined the FH Week, designing continuous education for patients and healthcare professionals; this year will not be an exception. Furthermore, as part of our commitment in diagnosing our population who live with FH, we have been working in developing an informatics tool which allow us to identify possible FH patients, through our Institutional Central Laboratory which allows us to follow-up on them, to verify their potential FH diagnosis and begin appropriate therapy at the earliest convenience. Results obtained from this project will be published in 2025. To date, we have a representative of the FH Mexican Registry in almost every state of our country, generating consciousness about FH in Mexico and expanding our registry’s scope for the benefit of our patients.
South Africa
South Africa is known to have a high prevalence of familial hypercholesterolaemia (FH) in many of its communities but the state and private health care services have no plan to ensure that all people with FH are diagnosed. Attempts to improve attention to lipid disorders through approaching the minister of health and health science faculties have not met with success. When FH is diagnosed, treatment often does not achieve the recommended target concentrations for LDL cholesterol. Although there is an increasing trend for supporting atorva- or rosuvastatin and ezetimibe, very few people with FH are receiving newer forms of treatment (alirocumab, evolocumab). LASSA is performing a study to do a clinical and laboratory assessment of referred patients with hypercholesterolaemia >12 mmol/L without severe hypertriglyceridaemia as such parameters would identify the highest risk as well as incomplete responses to the available treatment. The intention is to establish how successful the provision of PCSK9-modulating drugs will be.
Vietnam
The Vietnam Atherosclerosis Society (VAS) successfully held its second congress in Nha Trang City on August 9-10, 2024, attracting over 800 delegates. This significant event featured members of the VINAFH program, including Prof. Doan-Loi Do, Assoc. Prof. Thanh-Huong Truong, Dr. Mai-Ngoc Thi Nguyen, Dr. Ngoc-Thanh, Dr. Thanh-Tung Le, and Dr. Hong-An Le, who showcased a booth dedicated to raising awareness about familial hypercholesterolemia (FH). The congress included joint sessions on dyslipidemia and FH, discussing its current status in Vietnam alongside global experiences. Esteemed experts from the European Atherosclerosis Society (EAS) and the International Atherosclerosis Society (IAS), such as Prof. Borge Nordegrand, Prof. Dirk Blom, and Prof. Mariko Harada-Shiba, shared valuable insights. Additionally, the event unveiled the 2024 VNHA/VAS Guidelines for the Treatment of Dyslipidemias, developed by the Vietnam National Heart Association (VNHA) and VAS. These guidelines highlighted the importance of screening, diagnosis, and treatment for FH to prevent cardiovascular diseases. These initiatives have significantly raised awareness and interest in FH across Vietnam, paving the way for improved patient care and outcomes.
Publication: Quang-Binh TRUONG, Thanh-Huong TRUONG, Van-Minh HUYNH, Van-Phuoc DANG, et al. 2024 VNHA/VAS Guidelines for the Treatment of Dyslipidaemias: The Task Force of the Vietnam National Heart Association (VNHA) and Vietnam Atherosclerosis Society (VAS). Available for access:
https://vnha.org.vn/docs/index.html?x=1&hoinghi=31
https://vas.org.vn/detail/25550/roi-loan-lippid-mau-full.html
https://vas.org.vn/detail/25551/roi-loan-lippid-mau-tom-tat.html
