Homozygous familial hypercholesterolemia in Lebanon: A genotype/phenotype correlation

Fahed, Akl C.; Safa, Raya; Haddad, F.; Bitar, Fadi; Andary, Rabih R.; Arabi, Mariam; Azar, Sami T.; Nemer, Georges

doi:10.1016/j.ymgme.2010.11.006

Cited by 45 publications

(25 citation statements)

References 30 publications

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“…Danish and Norwegian data suggest an even higher prevalence rate of between 1 in 200 and 1 in 300 (9,10). In some populations HeFH prevalence is extremely high as a result of founder effects (increased frequency of a genetic abnormality in an isolated population) (11)(12)(13)(14)(15).…”

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confidence: 99%

Familial Hypercholesterolemia

Klose¹,

Laufs

März

et al. 2014

Deutsches Ärzteblatt International

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confidence: 99%

Familial Hypercholesterolemia

Klose¹,

Laufs

März

et al. 2014

Deutsches Ärzteblatt International

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“…The classical HoFH prevalence is 1:1 000 000, 1 with higher rates in genetically isolated populations, such as French Canadians, Afrikaners from South Africa, or Christian Lebanese people. [10][11][12][13] However, recent publications showed that the true prevalence may be higher, with estimated HoFH prevalences of 1:160 000 in Denmark, 14 1:300 000 in the Netherlands, 15 and 1:800 000 in Germany. 16 Additionally, a recent document from the Spanish Atherosclerosis Society refers to 44 genetically confirmed cases in Spain.…”

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confidence: 99%

Homozygous Familial Hypercholesterolemia in Spain

Sánchez-Hernández¹,

Civeira²,

Stef³

et al. 2016

Circ Cardiovasc Genet

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Recent genetic studies of FH highlight the great variability of the clinical phenotypes in HoFH and heterozygous FH (HeFH), the poor genotype-phenotype correlation, and the large clinical overlap between HoFH and HeFH. 15,[18][19][20] These findings can be explained based on the variations in the number of genes involved, the specific pathogenic mutations, and Background-Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1

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“…In some geographic areas owing to a founder effect, the prevalence is higher: one in 30,000 in South Africa, one in 275,000 in Quebec, one in 100,000 in Lebanon and one in 171,167 in a Japan district [6][7][8][9]. Recent studies suggest a frequency as high as one in 200 for HeFH and this implies that it may be an underestimation of diagnosis in the general population, and the prevalence of HoFH may be higher than p reviously thought [10,11].…”

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confidence: 99%