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Familial hypercholesterolemia(FH)

MedGen UID:
5688
Concept ID:
C0020445
Disease or Syndrome
Synonyms: FH; Fredrickson type IIa hyperlipoproteinemia; Hyper-beta-lipoproteinemia; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; HYPERBETALIPOPROTEINEMIA; Hyperbetalipoproteinemia; HYPERCHOLESTEROLEMIA, FAMILIAL; HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL; Hyperlipoproteinemia type 2; Hyperlipoproteinemia type II; Hyperlipoproteinemia Type II; Hyperlipoproteinemia Type IIa; HYPERLIPOPROTEINEMIA, TYPE II; LDL RECEPTOR DISORDER; LDLR-Related Familial Hypercholesterolemia, Autosomal Dominant
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Familial hypercholesterolemia (398036000); Essential familial hypercholesterolemia (398036000); Familial hyperbetalipoproteinemia (398036000); LDL receptor disorder (398036000); LDL - Low density lipoprotein receptor disorder (398036000); Low density lipoprotein catabolic defect (398036000); Hyperbetalipoproteinemia (190773008)
 
Genes: PPP1R17; LDLR; ITIH4; GHR; EPHX2; APOA2; ABCA1
Cytogenetic locations: 19p13.2; 1q23.3; 3p21.1; 5p13.1-12; 7p14.3; 8p21.2-21.1; 9q31.1
OMIM: 143890; 144400

Definition

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL). [from OMIM]

Additional description

From GHR
Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease. This condition occurs when excess cholesterol in the bloodstream is deposited in the walls of blood vessels, particularly in the arteries that supply blood to the heart (coronary arteries). The abnormal buildup of cholesterol forms clumps (plaque) that narrow and harden artery walls. As the clumps get bigger, they can clog the arteries and restrict the flow of blood to the heart. The buildup of plaque in coronary arteries causes a form of chest pain called angina and greatly increases a person's risk of having a heart attack. Inherited forms of hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in other tissues. If cholesterol accumulates in tendons, it causes characteristic growths called tendon xanthomas. These growths most often affect the Achilles tendons and tendons in the hands and fingers. Yellowish cholesterol deposits under the skin of the eyelids are known as xanthelasmata. Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.  http://ghr.nlm.nih.gov/condition/hypercholesterolemia

Clinical features

Xanthelasma
MedGen UID:
504731
Concept ID:
CN001046
Finding
The presence of xanthomata in the skin of the eyelid.
Corneal arcus
MedGen UID:
504718
Concept ID:
CN001017
Finding
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
Abnormality of the skin
MedGen UID:
504656
Concept ID:
CN000890
Finding
An abnormality of the `skin` (FMA:7163).
Xanthelasma
MedGen UID:
504731
Concept ID:
CN001046
Finding
The presence of xanthomata in the skin of the eyelid.
Hypertriglyceridemia
MedGen UID:
43788
Concept ID:
C0020557
Finding
A condition of elevated levels of TRIGLYCERIDES in the blood.
Hypercholesterolemia
MedGen UID:
312004
Concept ID:
C1522133
Laboratory or Test Result
A laboratory test result indicating an increased amount of cholesterol in the blood.

Professional guidelines

PubMed

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article

External

Identification and management of familial hypercholesterolaemia

Recent clinical studies

Etiology

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators
J Am Coll Cardiol 2014 May 20;63(19):1982-9. Epub 2014 Mar 13 doi: 10.1016/j.jacc.2014.01.063. [Epub ahead of print] PMID: 24632281
O'Brien EC, Roe MT, Fraulo ES, Peterson ED, Ballantyne CM, Genest J, Gidding SS, Hammond E, Hemphill LC, Hudgins LC, Kindt I, Moriarty PM, Ross J, Underberg JA, Watson K, Pickhardt D, Rader DJ, Wilemon K, Knowles JW
Am Heart J 2014 Mar;167(3):342-349.e17. Epub 2013 Dec 21 doi: 10.1016/j.ahj.2013.12.008. [Epub ahead of print] PMID: 24576518
van den Oord SC, Akkus Z, Roeters van Lennep JE, Bosch JG, van der Steen AF, Sijbrands EJ, Schinkel AF
Atherosclerosis 2013 Nov;231(1):107-13. Epub 2013 Sep 11 doi: 10.1016/j.atherosclerosis.2013.08.040. [Epub ahead of print] PMID: 24125419
Singh N, Goyal M, Kumar S, Roy KK
J Obstet Gynaecol Res 2013 Sep;39(9):1415-8. Epub 2013 Jul 15 doi: 10.1111/jog.12053. [Epub ahead of print] PMID: 23855314
Raal F, Scott R, Somaratne R, Bridges I, Li G, Wasserman SM, Stein EA
Circulation 2012 Nov 13;126(20):2408-17. Epub 2012 Nov 5 doi: 10.1161/CIRCULATIONAHA.112.144055. [Epub ahead of print] PMID: 23129602

Diagnosis

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators
J Am Coll Cardiol 2014 May 20;63(19):1982-9. Epub 2014 Mar 13 doi: 10.1016/j.jacc.2014.01.063. [Epub ahead of print] PMID: 24632281
O'Brien EC, Roe MT, Fraulo ES, Peterson ED, Ballantyne CM, Genest J, Gidding SS, Hammond E, Hemphill LC, Hudgins LC, Kindt I, Moriarty PM, Ross J, Underberg JA, Watson K, Pickhardt D, Rader DJ, Wilemon K, Knowles JW
Am Heart J 2014 Mar;167(3):342-349.e17. Epub 2013 Dec 21 doi: 10.1016/j.ahj.2013.12.008. [Epub ahead of print] PMID: 24576518
Braamskamp MJ, Tsimikas S, Wiegman A, Kastelein JJ, Hutten BA
Atherosclerosis 2013 Aug;229(2):404-7. Epub 2013 Jun 14 doi: 10.1016/j.atherosclerosis.2013.05.023. [Epub ahead of print] PMID: 23880195
Hu M, Lan W, Lam CW, Mak YT, Pang CP, Tomlinson B
Int J Cardiol 2013 Aug 10;167(3):762-7. Epub 2012 Mar 30 doi: 10.1016/j.ijcard.2012.03.048. [Epub ahead of print] PMID: 22464486
Raal F, Scott R, Somaratne R, Bridges I, Li G, Wasserman SM, Stein EA
Circulation 2012 Nov 13;126(20):2408-17. Epub 2012 Nov 5 doi: 10.1161/CIRCULATIONAHA.112.144055. [Epub ahead of print] PMID: 23129602

Therapy

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators
J Am Coll Cardiol 2014 May 20;63(19):1982-9. Epub 2014 Mar 13 doi: 10.1016/j.jacc.2014.01.063. [Epub ahead of print] PMID: 24632281
Stein EA, Honarpour N, Wasserman SM, Xu F, Scott R, Raal FJ
Circulation 2013 Nov 5;128(19):2113-20. Epub 2013 Sep 6 doi: 10.1161/CIRCULATIONAHA.113.004678. [Epub ahead of print] PMID: 24014831
Singh N, Goyal M, Kumar S, Roy KK
J Obstet Gynaecol Res 2013 Sep;39(9):1415-8. Epub 2013 Jul 15 doi: 10.1111/jog.12053. [Epub ahead of print] PMID: 23855314
Sala-Vila A, Cofán M, Mateo-Gallego R, Cenarro A, Civeira F, Ros E
J Nutr Biochem 2013 Sep;24(9):1604-8. Epub 2013 Apr 22 doi: 10.1016/j.jnutbio.2013.01.011. [Epub ahead of print] PMID: 23618530
Raal F, Scott R, Somaratne R, Bridges I, Li G, Wasserman SM, Stein EA
Circulation 2012 Nov 13;126(20):2408-17. Epub 2012 Nov 5 doi: 10.1161/CIRCULATIONAHA.112.144055. [Epub ahead of print] PMID: 23129602

Prognosis

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators
J Am Coll Cardiol 2014 May 20;63(19):1982-9. Epub 2014 Mar 13 doi: 10.1016/j.jacc.2014.01.063. [Epub ahead of print] PMID: 24632281
Kusters DM, Wiegman A, Kastelein JJ, Hutten BA
Circ Res 2014 Jan 17;114(2):307-10. Epub 2013 Nov 5 doi: 10.1161/CIRCRESAHA.114.301430. [Epub ahead of print] PMID: 24192652
Alharbi KK, Kashour TS, Al-Hussaini W, Al-Nbaheen MS, Mohamed S, Hasanato RM, Tamimi W, Al-Naami MY, Khan IA
Lipids Health Dis 2013 Dec 1;12:177. doi: 10.1186/1476-511X-12-177. [Epub ahead of print] PMID: 24289455
Braamskamp MJ, Tsimikas S, Wiegman A, Kastelein JJ, Hutten BA
Atherosclerosis 2013 Aug;229(2):404-7. Epub 2013 Jun 14 doi: 10.1016/j.atherosclerosis.2013.05.023. [Epub ahead of print] PMID: 23880195
Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE
Clin Chim Acta 2013 Jun 5;421:219-25. Epub 2013 Mar 25 doi: 10.1016/j.cca.2013.03.017. [Epub ahead of print] PMID: 23535506Free PMC Article

Clinical prediction guides

Alonso R, Andres E, Mata N, Fuentes-Jiménez F, Badimón L, López-Miranda J, Padró T, Muñiz O, Díaz-Díaz JL, Mauri M, Ordovás JM, Mata P; SAFEHEART Investigators
J Am Coll Cardiol 2014 May 20;63(19):1982-9. Epub 2014 Mar 13 doi: 10.1016/j.jacc.2014.01.063. [Epub ahead of print] PMID: 24632281
Kusters DM, Wiegman A, Kastelein JJ, Hutten BA
Circ Res 2014 Jan 17;114(2):307-10. Epub 2013 Nov 5 doi: 10.1161/CIRCRESAHA.114.301430. [Epub ahead of print] PMID: 24192652
Alharbi KK, Kashour TS, Al-Hussaini W, Al-Nbaheen MS, Mohamed S, Hasanato RM, Tamimi W, Al-Naami MY, Khan IA
Lipids Health Dis 2013 Dec 1;12:177. doi: 10.1186/1476-511X-12-177. [Epub ahead of print] PMID: 24289455
Braamskamp MJ, Tsimikas S, Wiegman A, Kastelein JJ, Hutten BA
Atherosclerosis 2013 Aug;229(2):404-7. Epub 2013 Jun 14 doi: 10.1016/j.atherosclerosis.2013.05.023. [Epub ahead of print] PMID: 23880195
McCrindle BW
Curr Opin Lipidol 2012 Dec;23(6):525-31. doi: 10.1097/MOL.0b013e3283587522. PMID: 22914663

Recent systematic reviews

Ademi Z, Watts GF, Juniper A, Liew D
Int J Cardiol 2013 Sep 10;167(6):2391-6. Epub 2013 Mar 13 doi: 10.1016/j.ijcard.2013.01.280. [Epub ahead of print] PMID: 23490080
Robinson JG, Goldberg AC; National Lipid Association Expert Panel on Familial Hypercholesterolemia
J Clin Lipidol 2011 Jun;5(3 Suppl):S18-29. Epub 2011 Apr 3 doi: 10.1016/j.jacl.2011.03.451. [Epub ahead of print] PMID: 21600526
Goldberg AC, Hopkins PN, Toth PP, Ballantyne CM, Rader DJ, Robinson JG, Daniels SR, Gidding SS, de Ferranti SD, Ito MK, McGowan MP, Moriarty PM, Cromwell WC, Ross JL, Ziajka PE; National Lipid Association Expert Panel on Familial Hypercholesterolemia
J Clin Lipidol 2011 Jun;5(3 Suppl):S1-8. Epub 2011 Apr 12 doi: 10.1016/j.jacl.2011.04.003. [Epub ahead of print] PMID: 21600525
Davidson MH
J Clin Lipidol 2011 Mar-Apr;5(2):76-81. Epub 2011 Jan 31 doi: 10.1016/j.jacl.2011.01.005. [Epub ahead of print] PMID: 21392720
Vuorio A, Kuoppala J, Kovanen PT, Humphries SE, Strandberg T, Tonstad S, Gylling H
Cochrane Database Syst Rev 2010 Jul 7;(7):CD006401. doi: 10.1002/14651858.CD006401.pub2. PMID: 20614444

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