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

Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited disorder of lipid metabolism in which mutations in two genes or alleles in the low-density lipoprotein receptor (LDL-R) pathway result in extremely high levels of circulating LDL cholesterol (LDL-C).1 Untreated LDL-C levels>10mmol/L are often indicative of HoFH and warrant evaluation.1 HoFH is the rare, homozygous form of FH. FH is the most common monogenic disorder in man.2 HoFH occurs when both parents carry FH mutations that combine in the child either as a two homozygous alleles (termed monogenic, biallelic semi-dominant hypercholesterolemia) or as a pair of heterozygous alleles (termed digenic, biallelic semi-dominant hypercholesterolemia).

Source: Journal of Clinical Lipidology - December 14, 2023 Category: Lipidology Authors: Dr Abdullah Al-Ashwal, Dr Mohammed Al Dubayee, Dr Afaf Alsagheir, Dr Mutaz Al-Sabah, Dr Ahmed Al-Sarraf, Dr Zuhier Awan, Dr Tawfeg Ben-Omran, Dr Saif Al-Yaarubi, Dr Angham Almutair, Dr Abdelhadi Habeb, Dr Faouzi Maatouk, Manal Alshareef, Dr Naji Kholaif, Tags: Review Article Source Type: research