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Familial hypoalphalipoproteinemia(HDLC; FHA)

MedGen UID:
352844
Concept ID:
C1704429
Disease or Syndrome
Synonyms: Familial HDL deficiency; Hypoalphalipoproteinemia, primary
SNOMED CT: Familial hypoalphalipoproteinemia (15346004); Familial high density lipoprotein deficiency (15346004)
 
Related genes: APOA1, ABCA1
 
OMIM®: 604091

Definition

Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). Genetic Heterogeneity of Primary Hypoalphalipoproteinemia Primary hypoalphalipoproteinemia-2 (618463) and intermediate primary hypoalphalipoproteinemia-2 (619836) are caused by mutation in the APOA1 gene (107680) on chromosome 11q23. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Familial hypoalphalipoproteinemia in Orphanet.

Professional guidelines

PubMed

Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718Free PMC Article

Recent clinical studies

Etiology

Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718Free PMC Article
Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505
Frohlich J, Westerlund J, Sparks D, Pritchard PH
Clin Invest Med 1990 Aug;13(4):202-10. PMID: 2119926
Ordovas JM, Schaefer EJ, Salem D, Ward RH, Glueck CJ, Vergani C, Wilson PW, Karathanasis SK
N Engl J Med 1986 Mar 13;314(11):671-7. doi: 10.1056/NEJM198603133141102. PMID: 3081805
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Diagnosis

Kakko S, Kelloniemi J, von Rohr P, Hoeschele I, Tamminen M, Brousseau ME, Kesäniemi YA, Savolainen MJ
Atherosclerosis 2003 Feb;166(2):285-90. doi: 10.1016/s0021-9150(02)00232-0. PMID: 12535741
Schaefer EJ, Genest JJ Jr, Ordovas JM, Salem DN, Wilson PW
Atherosclerosis 1994 Aug;108 Suppl:S41-54. doi: 10.1016/0021-9150(94)90152-x. PMID: 7802728
Tamugur E, Oren B, Büyükgebiz A
J Pediatr Endocrinol 1993 Apr-Jun;6(2):185-90. PMID: 8348223
Frohlich J, Pritchard PH
Mol Cell Biochem 1992 Aug 18;113(2):141-9. doi: 10.1007/BF00231534. PMID: 1518505
Frohlich J, Westerlund J, Sparks D, Pritchard PH
Clin Invest Med 1990 Aug;13(4):202-10. PMID: 2119926

Therapy

Bonilha I, Luchiari B, Nadruz W, Sposito AC
Arch Endocrinol Metab 2023 Jan 18;67(1):3-18. doi: 10.20945/2359-3997000000585. PMID: 36651718Free PMC Article
Pollex RL, Hegele RA
Nat Clin Pract Cardiovasc Med 2007 Nov;4(11):600-9. doi: 10.1038/ncpcardio1005. PMID: 17957207
Schaefer EJ
Med Clin North Am 1994 Jan;78(1):21-39. doi: 10.1016/s0025-7125(16)30175-4. PMID: 8283932
Glueck CJ, Melser MA, Borecki IB, Third JL, Rao DC, Laskarzewski PM
Adv Exp Med Biol 1986;201:83-92. doi: 10.1007/978-1-4684-1262-8_8. PMID: 3541525
Ordovas JM, Schaefer EJ, Salem D, Ward RH, Glueck CJ, Vergani C, Wilson PW, Karathanasis SK
N Engl J Med 1986 Mar 13;314(11):671-7. doi: 10.1056/NEJM198603133141102. PMID: 3081805

Prognosis

Saleheen D
Biochem Biophys Res Commun 2005 Sep 9;334(4):971-2. doi: 10.1016/j.bbrc.2005.06.094. PMID: 16009332
Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalù AB, Cantafora A, Calandra S, Bertolini S
Atherosclerosis 2004 Feb;172(2):309-20. doi: 10.1016/j.atherosclerosis.2003.11.009. PMID: 15019541
Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denèfle P, Rosier M
Cytogenet Genome Res 2002;98(2-3):169-76. doi: 10.1159/000069811. PMID: 12697999
Ordovas JM, Schaefer EJ
Ann Biol Clin (Paris) 1988;46(1):24-9. PMID: 2898907
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

Clinical prediction guides

Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A, Fasano T, Alessandrini P, Bon GB, Siepi D, Mannarino E, Cattin L, Averna M, Cefalù AB, Cantafora A, Calandra S, Bertolini S
Atherosclerosis 2004 Feb;172(2):309-20. doi: 10.1016/j.atherosclerosis.2003.11.009. PMID: 15019541
Kort EN, Ballinger DG, Ding W, Hunt SC, Bowen BR, Abkevich V, Bulka K, Campbell B, Capener C, Gutin A, Harshman K, McDermott M, Thorne T, Wang H, Wardell B, Wong J, Hopkins PN, Skolnick M, Samuels M
Am J Hum Genet 2000 Jun;66(6):1845-56. Epub 2000 Apr 17 doi: 10.1086/302945. PMID: 10775531Free PMC Article
Genest J Jr, Bard JM, Fruchart JC, Ordovas JM, Schaefer EJ
Arterioscler Thromb 1993 Dec;13(12):1728-37. doi: 10.1161/01.atv.13.12.1728. PMID: 8241092
Rice T, Vogler GP, Laskarzewski PM, Perry TS, Rao DC
Hum Biol 1991 Aug;63(4):419-39. PMID: 1889794
Third JL, Montag J, Flynn M, Freidel J, Laskarzewski P, Glueck CJ
Metabolism 1984 Feb;33(2):136-46. doi: 10.1016/0026-0495(84)90126-4. PMID: 6694557

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