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Review
. 2024 Mar-Apr;18(2):e132-e141.
doi: 10.1016/j.jacl.2023.12.003. Epub 2023 Dec 15.

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa

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Free article
Review

Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa

Abdullah Al-Ashwal et al. J Clin Lipidol. 2024 Mar-Apr.
Free article

Abstract

Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH. Therefore, in the interests of both economics and preservation of life, disease prevention via genetic screening and counselling is rapidly becoming a key element in the overall management of HoFH. Guidelines are available to assist diagnosis and treatment of HoFH; however, while advancements have been made in the management of the disease, there has been little systematic attention paid to prevention. Additionally, the Middle East/North Africa (MENA) region has a higher prevalence of HoFH than most other regions - chiefly due to consanguinity. This has led to the establishment of regional lipid clinics and awareness programs that have thrown education and awareness of HoFH into sharp focus. Incorporation of principles of prevention, education, awareness, and data from real-world use of existing therapeutics will significantly enhance the effectiveness of future guidelines for the management of HoFH, particularly in the MENA region.

Keywords: Clinical practice guidelines; Homozygous familial hypercholesterolemia; Middle East; North Africa.

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Conflict of interest statement

Declaration of competing interest Dr Abdullah Al-Ashwal has received honoraria for speaking and advisory board engagements from Amryt. Dr Afaf Alsagheir has received honoraria for speaking and advisory board engagements from Amryt, Merck, Nono Nordisk, Biomarin and Kyowa Kirin. Dr Mohammed Al Dubayee has received honoraria for speaking and advisory board engagements from Amryt and Novo Nordisk. Dr Mutaz Al-Khnifsawi has received honoraria for speaking and advisory board engagements from Amryt. Dr Ahmed Al-Sarraf has no conflicts to declare. Dr Zuhier Awan has received honoraria for speaking and advisory board engagements from Amryt and Amgen. Dr Tawfeg Ben-Omran has no conflicts to declare. Dr Saif Al-Yaarubi has received honoraria for speaking and advisory board engagements from Amryt, Merck, Novo Nordisk, and Kyowa Kirin. Dr Angham Almutair has no conflicts to declare. Dr Abdelhadi Habeb has received honoraria for speaking and advisory board engagements from Amryt and Kyowa Kirin. Dr Faouzi Maatouk has no conflicts to declare. Dr Manal Alshareef has no conflicts to declare. Dr Naji Kholaif has received honoraria for speaking and advisory board engagements from Amryt, Novartis and Amgen. Prof Dirk Blom reports research grants from Amryt, Amgen, AstraZeneca, Sanofi, and Regeneron; lecture fees and personal fees from Amryt, Amgen, Sanofi-Aventis, Servier and Novartis; and has participated in advisory boards for Amryt (Chair of the LOWER study steering committee) and Servier.

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