Hypercholesterolemia, Familial, 1

Alternative Names

  • FHCL1
  • FHC
  • FH
  • Hyperlipoproteinemia, Type II
  • Hyperlipoproteinemia, Type IIA
  • Hyper-Low-Density-Lipoproteinemia
  • Hypercholesterolemic Xanthomatosis, Familial
  • LDL Receptor Disorder
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

143890

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1q23.3,5p13-p12,7p14.3,8p21.2-p21.1,19p13.2

Description

Familial hypercholesterolemia 1 (FHCL1) is an autosomal dominant disorder characterized by markedly elevated levels of serum cholesterol bound to low density lipoprotein (LDL), resulting in hypercholesterolemia, xanthomas, and atherosclerosis of coronary arteries. FHCL1 is associated with mutations in the low density lipoprotein receptor gene, LDLR, which is a cell surface receptor that plays an important role in cholesterol homeostasis. Single nucleotide polymorphisms in other genes such as the APOA2 gene, EPHX2 gene, and GHR gene are known to act as modifiers of the FHCL1 phenotype.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
143890.1.1LebanonYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient A1 in public...
143890.1.2LebanonMaleYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient A2 in public...
143890.2.1LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient B1 in public...
143890.2.2LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient B2 in public...
143890.3.1LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient C1 in public...
143890.3.2LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient C2 in public...
143890.4.1LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient D1 in public...
143890.4.2LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient D2 in public...
143890.5LebanonUnknownYesYes HyperlipidemiaNM_000527.4:c.1171G>AHeterozygousAutosomal, DominantFahed et al., 2011 Patient E1 in public...
143890.6.1LebanonUnknownYesYes HyperlipidemiaNM_000527.4:c.1352T>CHomozygousAutosomal, DominantFahed et al., 2011 Patient F1 in public...
143890.6.2LebanonUnknownYesYes HyperlipidemiaNM_000527.4:c.1352T>C, "Lebanese Allele" NM_000527.4:c.2043C>AHeterozygous, HomozygousAutosomal, DominantFahed et al., 2011 Patient F2 in public...
143890.7.1LebanonMaleYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al., 2011 Patient G1 in public...
143890.7.2LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al., 2011 Patient G2 in public...
143890.7.3LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al., 2011 Patient G3 in public...
143890.8LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient I1 in public...
143890.9LebanonUnknownYesYes HyperlipidemiaNM_000527.4:c.980dupHomozygousAutosomal, DominantFahed et al., 2011 Patient J1 in public...
143890.10.1LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient K1 in public...
143890.10.2LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient K2 in public...
143890.11LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient L1 in public...
143890.12LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient M1 in public...
143890.13LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient N1 in public...
143890.14LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient O1 in public...
143890.15LebanonUnknownYesYes HyperlipidemiaNM_000527.4:c.980dupHomozygousAutosomal, DominantFahed et al., 2011 Patient P1 in public...
143890.16LebanonUnknownYesNo HyperlipidemiaNM_000527.4:c.980dupHomozygousAutosomal, DominantFahed et al., 2011 Patient Q1 in public...
143890.17LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient S1 in public...
143890.18.1LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient U1 in public...
143890.18.2LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al., 2011 Patient U2 in public...
143890.19LebanonUnknownYesNo Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>A, NM_000527.5:c.2177C>THeterozygousAutosomal, DominantFahed et al., 2011 Patient V1 in public...
143890.20LebanonUnknownYesYes Hyperlipidemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al., 2011 Patient W1 in public...
143890.21.1Saudi ArabiaMaleYesYes HypercholesterolemiaNM_000527.4:c.2447_2450dupAGAAHomozygousAutosomal, DominantLehrman et al. 1985
143890.21.2Saudi ArabiaFemaleYesYes HypercholesterolemiaNM_000527.4:c.2447_2450dupAGAAHomozygousAutosomal, DominantLehrman et al. 1985 Sister of 143890.21....
143890.21.3Saudi ArabiaMaleYes HypercholesterolemiaNM_000527.4:c.2447_2450dupAGAAHeterozygousAutosomal, DominantLehrman et al. 1985 Father of 143890.21....
143890.21.4Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2447_2450dupAGAAHeterozygousAutosomal, DominantLehrman et al. 1985 Mother of 143890.21....
143890.22.01ArabMaleYes Premature coronary artery atherosclerosi...NM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Proband
143890.22.02ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Wife of 143890.22.01
143890.22.03ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.22.04ArabMaleYes Xanthelasma; HypercholesterolemiaNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.05ArabMaleYes Xanthelasma; HypercholesterolemiaNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.06ArabMaleYes AtherosclerosisNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.07ArabMaleYes AtherosclerosisNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.08ArabMaleYes AtherosclerosisNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.09ArabMaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.22.01
143890.22.10ArabFemaleYes AtherosclerosisNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.23.1ArabMaleYes Premature coronary artery atherosclerosi...NM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Proband
143890.23.2ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Wife of 143890.23.1
143890.23.3ArabFemaleYes Hypercholesterolemia; Diabetes mellitusNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.23.4ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.23.5ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.23.6ArabMaleYes Xanthelasma; HypercholesterolemiaNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.23.1
143890.23.7ArabFemaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Daughter of 143890.2...
143890.23.8ArabMaleYes HypercholesterolemiaNM_000527.4:c.1706-2A>THeterozygousAutosomal, DominantShawar et al. 2012 Son of 143890.23.1
143890.23.9ArabMaleYes Xanthelasma; HypercholesterolemiaNM_000527.4:c.1706-2A>THomozygousAutosomal, DominantShawar et al. 2012 Son of 143890.23.1
143890.24LebanonFemaleNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantLehrman et al, 1987
143890.25LebanonFemaleNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantLehrman et al, 1987
143890.26LebanonMaleNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantLehrman et al, 1987
143890.27SyriaFemaleNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantLehrman et al, 1987
143890.28PalestineUnknownNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AAutosomal, DominantOppenheim et al. 1991
143890.29PalestineUnknownNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AAutosomal, DominantOppenheim et al. 1991
143890.30PalestineUnknownNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AAutosomal, DominantOppenheim et al. 1991
143890.31PalestineUnknownNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AAutosomal, DominantOppenheim et al. 1991
143890.32PalestineUnknownNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AAutosomal, DominantOppenheim et al. 1991
143890.33.1Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016 Proband
143890.33.2Saudi ArabiaMaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Father of 143890.33....
143890.33.3Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Mother of 143890.33....
143890.33.4Saudi ArabiaMaleYes Increased LDL cholesterol concentrationNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Brother of 143890.33...
143890.33.5Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Sister of 143890.33....
143890.33.6Saudi ArabiaFemaleYes Increased LDL cholesterol concentrationNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Sister of 143890.33....
143890.34.1Saudi ArabiaFemaleYes Increased LDL cholesterol concentrationNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016 Proband
143890.34.2Saudi ArabiaFemaleYes Increased LDL cholesterol concentrationNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016 Sister of 143890.34....
143890.34.3Saudi ArabiaMaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Father of 143890.34....
143890.34.4Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Mother of 143890.34....
143890.35.1Saudi ArabiaMaleYes HypercholesterolemiaNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016 Proband
143890.35.2Saudi ArabiaFemaleYes HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016 Sister of 143890.35....
143890.36Saudi ArabiaFemaleNo HypercholesterolemiaNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016
143890.37Saudi ArabiaMaleNo HypercholesterolemiaNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016
143890.38Saudi ArabiaFemaleNo HypercholesterolemiaNM_000527.4:c.2027delHomozygousAutosomal, DominantAl-Allaf et al. 2016
143890.40Saudi ArabiaFemaleNo HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016
143890.41Saudi ArabiaMaleNo HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016
143890.42Saudi ArabiaMaleNo HypercholesterolemiaNM_000527.4:c.2027delHeterozygousAutosomal, DominantAl-Allaf et al. 2016
143890.43.1SyriaUnknownYesYes Hypercholesterolemia; Tendon xanthomato...NM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997
143890.43.2SyriaUnknownYesYes Hypercholesterolemia; Tendon xanthomato...NM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997 Belongs to the same ...
143890.43.3SyriaUnknownYesYes Hypercholesterolemia; Tendon xanthomat...NM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997 Belongs to the same ...
143890.43.4SyriaUnknownYesYes HypercholesterolemiaNM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997 Belongs to the same ...
143890.43.5SyriaUnknownYesYes HypercholesterolemiaNM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997 Belongs to the same ...
143890.43.6SyriaUnknownYesYes HypercholesterolemiaNM_000527.4:c.1999T>CHomozygousAutosomal, DominantVergopoulos et al. 1997 Belongs to the same ...
143890.44.01TunisiaMaleYesNo Diabetes mellitus; Corneal arcus; Pr...NM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 The variant was foun...
143890.44.02TunisiaFemaleYesNoNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 Wife and first cousi...
143890.44.03TunisiaFemaleYesNoNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 First cousin of 1438...
143890.44.04TunisiaMaleYesNo Diabetes mellitusNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 Husband and First co...
143890.44.05TunisiaFemaleYesYes Hypercholesterolemia; Tendon Xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.44.06TunisiaMaleYesYes Hypercholesterolemia; Tendon xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Son of 143890.44.01
143890.44.07TunisiaFemaleYesYes Hypercholesterolemia; Tendon xanthom...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.44.08TunisiaFemaleYesYes Hypercholesterolemia; Tendon xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.44.09TunisiaMaleYesYes Hypercholesterolemia; Tuberous xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Son of 143890.44.03
143890.44.10TunisiaMaleYesYes Hypercholesterolemia; Tuberous xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Son of 143890.44.03
143890.44.11TunisiaMaleYesNoNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 First cousin once re...
143890.44.12TunisiaFemaleYesNo ObesityNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 First cousin once re...
143890.44.13TunisiaFemaleYesYesNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.44.14TunisiaMaleYesYes Hypercholesterolemia; Tuberous Xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Son of 143890.44.11
143890.44.15TunisiaMaleYesYes Hypercholesterolemia; Tuberous xanthoma...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Son of 143890.44.11
143890.44.16TunisiaFemaleYesYesNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.44.17TunisiaFemaleYesYes Increased LDL cholesterol concentrationNM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.45.1TunisiaFemaleYesNo ObesityNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001
143890.45.2TunisiaMaleYesNo Obesity; Peripheral arterial stenosisNM_000527.5:c.1477_1479delinsAGAGACAHeterozygousAutosomal, DominantSlimane et al. 2001 Married to first cou...
143890.45.3TunisiaFemaleYesNo Hypercholesterolemia; Tuberous xanthomaNM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001 Daughter of 143890.4...
143890.46TunisiaFemaleNoNo Hypercholesterolemia; Tendon xanthomato...NM_000527.5:c.1477_1479delinsAGAGACAHomozygousAutosomal, DominantSlimane et al. 2001
143890.47BahrainMaleNo HypercholesterolemiaNM_000527.4:c.2439G>AHomozygousAutosomal, DominantLehrman et al. 1985
143890.48LebanonUnknown Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantCallis et al, 1998
143890.48.1OmanFemaleYesYes Corneal arcus; Xanthelasma; Tendon xan...NM_000527.4:c.272delHomozygousAutosomal, DominantAl-Hinai et al. 2013; Al-Rasadi et al, 2014 Proband
143890.48.2OmanMaleYes Premature coronary artery atherosclerosi...NM_000527.4:c.272delHomozygousAutosomal, DominantAl-Hinai et al. 2013; Al-Rasadi et al, 2014 Father of 143890.48....
143890.48.3OmanFemaleYesYes HypercholesterolemiaNM_000527.4:c.272delHomozygousAutosomal, DominantAl-Hinai et al. 2013; Al-Rasadi et al, 2014 Sister of 143890.48....
143890.48.4OmanFemaleYesYes HypercholesterolemiaNM_000527.4:c.272delHomozygousAutosomal, DominantAl-Hinai et al. 2013; Al-Rasadi et al, 2014 Sister of 143890.48....
143890.49LebanonUnknown Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantCallis et al, 1998
143890.50.1LebanonMaleYesNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantHsia et al, 1996 Proband
143890.50.2LebanonMaleYesNo Hypercholesterolemia"Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantHsia et al, 1996 Son of 143890.50.1
143890.51LebanonUnknown Hypercholesterolemia; Aortic valve sten...NM_000527.4:c.1352T>CHomozygousAutosomal, DominantFahed et al, 2017
143890.52LebanonFemaleYesYes Increased LDL cholesterol concentration"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al. 2016
143890.53.1LebanonFemaleYesNo Hypercholesterolemia; severe"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, RecessiveFahed et al. 2012
143890.53.2LebanonMaleYesNo Hypercholesterolemia; severe"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, RecessiveFahed et al. 2012 Sibling of 143890.53...
143890.54.1LebanonFemaleYesNo Hypercholesterolemia; severe"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, RecessiveFahed et al. 2012
143890.54.2LebanonMaleYesNo Hypercholesterolemia; severe"Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, RecessiveFahed et al. 2012 Sibling of 143890.54...
143890.55United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.532G>A, NM_000527.5:c.728G>ACompound heterozygousAutosomal, DominantRimbert et al. 2021 'Patient 53' in the ...
143890.56United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1284C>GHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 99' in the ...
143890.57United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1429G>AHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 218' in the...
143890.58United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.4:c.-135C>GHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 352' in the...
143890.59United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.979C>THeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 391' in the...
143890.60United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1429G>A, NM_174936.4:c.323T>GCompound heterozygousAutosomal, DominantRimbert et al. 2021 'Patient 423' in the...
143890.61United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1294C>GHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 622' in the...
143890.62United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1610delHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 634' in the...
143890.63United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1555C>THeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 689' in the...
143890.64United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.505_511delHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 720' in the...
143890.65United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1381G>AHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 750' in the...
143890.66United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.1555C>THeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 808' in the...
143890.67United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.4:c.-120C>THeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 813' in the...
143890.68United Arab EmiratesUnknown Increased LDL cholesterol concentrationNM_000527.5:c.378C>AHeterozygousAutosomal, DominantRimbert et al. 2021 'Patient 851' in the...
143890.43.G.1SyriaUnknownYesYes HypercholesterolemiaNM_000527.4:c.1999T>CHeterozygousAutosomal, DominantVergopoulos et al. 1997 Group with unknown n...
143890.G.1LebanonUnknown Hypercholesterolemia; Abnormal heart v..."Lebanese Allele" NM_000527.4:c.2043C>AHomozygousAutosomal, DominantFahed et al, 2017 Group of 17 patients...
143890.G.2LebanonUnknown Hypercholesterolemia; Abnormal heart va..."Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al, 2017 Group of 5 patients ...
143890.G.4.1LebanonUnknown Hypercholesterolemia; Increased LDL chol..."Lebanese Allele" NM_000527.4:c.2043C>A, NM_174936.4:c.45_47GCT[9], NM_174936.4:c.45_47GCT[10]HeterozygousAutosomal, DominantAbifadel et al. 2009 Mutations identified...
143890.G.4.2LebanonUnknown Hypercholesterolemia; Increased LDL chol...NM_000527.5:c.761A>C, NM_000527.5:c.1066G>T, NM_000527.5:c.1073G>A, NM_000527.5:c.1329G>A, NM_000527.5:c.2476C>T, NM_000527.5:c.1352T>GHeterozygousAutosomal, DominantAbifadel et al. 2009 Mutations identified...
143890.G.5.1LebanonUnknownYes Increased LDL cholesterol concentrationNM_000527.4:c.1171G>AHeterozygousAutosomal, DominantFahed et al. 2016 Group of 3 patients
143890.G.5.2LebanonUnknownYes Increased LDL cholesterol concentration;..."Lebanese Allele" NM_000527.4:c.2043C>AHeterozygousAutosomal, DominantFahed et al. 2016 Group of 5 patients

Other Reports

Bahrain

Al-Mahroos and McKeigue (1998) studied the prevalence of diabetes and associated risk factors in the population of Bahrain. in 2,128 Bahrainis aged 40-69 years. Age-standardized prevalence of diabetes was 25% in Jaafari Arabs, 48% in Sunni Arabs, and 23% in Iranians. Mean plasma cholesterol was 0.5 mmol/l higher in diabetic than in normoglycemic participants, 0.5 mmol/l higher in Sunni than in Jaafari Arabs, and, excluding diabetic individuals, 0.2 mmol/l higher in those with a positive family history of diabetes than in those with a negative family history. The authors concluded that the high rates of diabetes in Bahrain and other Arabian Peninsula populations appear to be part of a familial syndrome that includes raised plasma cholesterol levels. Risk is related to ethnic origin but not to parental consanguinity.

Shawar et al. (2012b) studied the prevalence of hypercholesterolemia among 166 apparently healthy non-smoker university students (aged between 16-30 years) in Bahrain. The population consisted of 85 Saudis and 81 Bahrainis. A total of 44 students (19 males, 25 females) were found to have hypercholesterolemia. Eight of these students reported a family history of cardiac events, while five of them were obese with a BMI >30.

Kuwait

Olusi et al. (1997) carried out a study on a hospital outpatient population of 1076 subjects with a mean age of 38.9 years and a male to female ratio close to one, to determine the prevalence of hypercholesterolemia in Kuwait. The prevalence of hypercholesterolemia was found to constitute 15.8% of the cohort, 16% in males, and 15.7% in females. Moreover, the prevalence of hypercholesterolemia in middle-aged (40-49 years) Kuwaiti males was found to comprise 22.2% of the cohort proposing an increased risk of coronary heart disease in one of every five Kuwaiti middle-aged males. Furthermore, Olusi et al. found an extremely high prevalence rate (43.2%) of hypercholesterolemia in females aged 50-59 years and 31.2% in females aged 60-69 years.

Selvan et al. (2007) described the clinical features and family history of an 11-year old Kuwaiti boy with homozygous familial hypercholesterolemia. The patient presented with a history of recurrent episodes of chest pain and multiple xanthomas. Upon examination, he was found to have clinical features of moderate aortic stenosis and aortic regurgitation. ECG showed ST depression in the anterior and inferior leads, and thickened aortic valve with moderate regurgitation. Angiogram showed 70% stenosis of the left main coronary artery and ostial stenosis of the right coronary artery. Lipid profile was grossly abnormal. Pedigree analysis of his family revealed an interesting history. Both this father and paternal grandmother, who died at the age of 50-years following a myocardial infarction, were hypercholesterolemic. Of his siblings, two of either sex, had died after suffering from recurrent chest pain and multiple xanthomas, while three others had multiple xanthomas and hypercholesterolemia and were under treatment. Two other siblings were normal. The patient was managed with beta-receptor agonists, vasodilators, anti-thrombotics, cholesterol lowering drugs, and analgesics. However, he succumbed on the fourth day to severe coronary heart disease, emphasizing the need for early diagnosis of familial cases of hypercholesterolemia.

Lebanon

Edwards et al. (1978) studied fasting serum cholesterol and triglyceride levels in 131 randomly selected adult members of a Lebanese Community of Western New York. Mean cholesterol levels (males, 217 mg%; females 234 mg%) were higher than those reported from the Lebanon but similar to those reported in most other populations. Mean triglyceride levels (males, 153 mg%; females, 115 mg%) were higher than those reported in most other populations. Twenty-three subjects were hyperlipidemic on the basis of age and frequency distribution adjusted serum lipid levels above the 90th percentile. Clinical and family studies carried out on 13 of these 23 hyperlipidemic subjects suggested that 77% had monogenic hyperlipidemia and 23% primary non-monogenic hyperlipidemia. A high frequency of familial hypercholesterolemia (minimum estimate 0.7%) was found, in keeping with the high frequency of the disorder in Lebanon.

Nestel et al. 1984 described two Lebanese cousins with homozygous familial hypercholesterolemia (unidentified subtype) and apoprotein E3 deficiency; dysbetalipoproteinemia was identified in one of the patients. apoE Isoform study revealed E3/E2 in one boy and E2/E2 in the other. 

United Arab Emirates

Agarwal et al. (1995) conducted a study to determine if elevated cholesterol is a problem in the United Arab Emirates in order to be able to evaluate the contribution of cholesterol as a risk factor for atherosclerosis in this environment. In 834 patients, there were 19 nationalities represented which were pooled into 7 groups (5 Arab and 2 non Arab) according to their ethnic origins. The prevalence of hypercholesterolemia varied from 47.2-53% in the Arab Nationals. The mean cholesterol levels of the Arab subgroups were similar and showed no difference, statistically. Similarly, within the Arab subgroups, the median cholesterol levels were no different.

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