Familial hypercholesterolaemia registry in the MENA region

Genovefa Kolovou, Gerald F. Watts

Research output: Contribution to journalEditorial

Abstract

Although, the first case of familial hypercholesterolaemia (FH) was reported nearly 150 years ago by Charles Hilton Fagge [1], who described patient with cutaneous and tendon xanthomas and classified the disorder as a dermatological condition, diagnosing and treating this disorder is still in progress. The significant function of low density lipoprotein (LDL) receptors (LDLR) in cholesterol homeostasis, was demonstrated in 1974 by Michael Brown and Joseph Goldstein [2] and in 1985 the discovery of the LDLR gene, encoding the LDLR was announced [3]. Moreover, it was found, that LDLR gene mutations cause severe FH. Later, it was established that at least 1,800 mutations of the LDLR gene and of few other genes can cause FH [4]. The long-time marked elevation of plasma LDL cholesterol (LDL-C) concentration leads to premature and severe cardiovascular (CV) disease, including death, particularly, in individuals with homozygous FH (HoFH) [5]. Thus, early diagnosis and treatment of FH is vital, since the risk of premature atherosclerotic CV disease (ASCVD) is estimated to be 6 to 20-fold higher (depending on the severity of the mutation and the coexistence of other genetic and clinical risk factors) in untreated FH patients compared with control subjects [6].

Original languageEnglish
Number of pages1
JournalCurrent Vascular Pharmacology
Volume18
Issue number1
DOIs
Publication statusPublished - 2020

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