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Hyperlipoproteinemia type IV

MedGen UID:
9365
Concept ID:
C0020480
Disease or Syndrome
Synonyms: Carbohydrate inducible hyperlipemia; Familial hypertriglyceridemia; Familial type IV hyperlipoproteinemia; Fredrickson type IV hyperlipoproteinemia; Hyperlipoproteinemia type 4
SNOMED CT: Endogenous hyperlipemia (129589009); Endogenous hyperlipidemia (129589009); Fredrickson type IV hyperlipoproteinemia (238085009); Fredrickson type IV lipidemia (238085009); Pure hyperglyceridemia (267433009); Familial hypertriglyceridemia (34528009)
 
OMIM®: 144600
Orphanet: ORPHA413

Definition

On a regular diet patients with type IV hyperlipoproteinemia demonstrate increased plasma VLDL. Plasma triglycerides are persistently increased, while plasma cholesterol and phospholipids are usually within normal limits. Precocious atherosclerosis, abnormal glucose tolerance, and atheroeruptive xanthoma may occur. The disorder is undoubtedly heterogeneous and the phenotype strongly influenced by environmental factors, particularly carbohydrate and ethanol consumption. [from OMIM]

Clinical features

From HPO
Precocious atherosclerosis
MedGen UID:
867292
Concept ID:
C4021654
Pathologic Function
Hypopituitarism
MedGen UID:
9386
Concept ID:
C0020635
Disease or Syndrome
A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.
Glucose intolerance
MedGen UID:
75760
Concept ID:
C0271650
Disease or Syndrome
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
Hypertriglyceridemia
MedGen UID:
167238
Concept ID:
C0813230
Finding
An abnormal increase in the level of triglycerides in the blood.
Increased VLDL cholesterol concentration
MedGen UID:
867364
Concept ID:
C4021729
Finding
An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
Atheroeruptive xanthoma
MedGen UID:
871319
Concept ID:
C4025807
Disease or Syndrome

Term Hierarchy

Follow this link to review classifications for Hyperlipoproteinemia type IV in Orphanet.

Professional guidelines

PubMed

Lim PS, Hung TS, Yeh CH, Yu MH
Blood Purif 1998;16(1):22-9. doi: 10.1159/000014309. PMID: 9513759
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JAMA 1977 Mar 21;237(12):1212-5. PMID: 190426
Millett F, Sielski J, Stoll H, Alston N, Gail S
PA J 1976 Summer;6(2):54-9. PMID: 10235781

Recent clinical studies

Etiology

Lahoz C, Mostaza JM
Clin Investig Arterioscler 2021 May;33 Suppl 2:37-42. doi: 10.1016/j.arteri.2020.12.014. PMID: 34006352
Bello-Chavolla OY, Kuri-García A, Ríos-Ríos M, Vargas-Vázquez A, Cortés-Arroyo JE, Tapia-González G, Cruz-Bautista I, Aguilar-Salinas CA
Rev Invest Clin 2018;70(5):224-236. doi: 10.24875/RIC.18002575. PMID: 30307446
Soubrier M, Dubost JJ, Thiéblot P, Ristori JM
Joint Bone Spine 2009 Jan;76(1):95-7. Epub 2008 Dec 6 doi: 10.1016/j.jbspin.2008.03.009. PMID: 19064332
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622
Stuyt PM, Stalenhoef AF, Demacker PN, Van 't Laar A
Atherosclerosis 1985 Apr;55(1):51-62. doi: 10.1016/0021-9150(85)90165-0. PMID: 3924065

Diagnosis

Elkins C, Fruh S, Jones L, Bydalek K
J Pediatr Health Care 2019 Jul-Aug;33(4):494-504. doi: 10.1016/j.pedhc.2019.02.009. PMID: 31227123
Bello-Chavolla OY, Kuri-García A, Ríos-Ríos M, Vargas-Vázquez A, Cortés-Arroyo JE, Tapia-González G, Cruz-Bautista I, Aguilar-Salinas CA
Rev Invest Clin 2018;70(5):224-236. doi: 10.24875/RIC.18002575. PMID: 30307446
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997
Gotto AM Jr, Jones PH, Scott LW
Dis Mon 1986 May;32(5):245-311. doi: 10.1016/s0011-5029(86)80011-6. PMID: 3519132
Parker F
J Am Acad Dermatol 1985 Jul;13(1):1-30. doi: 10.1016/s0190-9622(85)70139-9. PMID: 4031142

Therapy

Soubrier M, Dubost JJ, Thiéblot P, Ristori JM
Joint Bone Spine 2009 Jan;76(1):95-7. Epub 2008 Dec 6 doi: 10.1016/j.jbspin.2008.03.009. PMID: 19064332
Goldberg AC, Schonfeld G, Feldman EB, Ginsberg HN, Hunninghake DB, Insull W Jr, Knopp RH, Kwiterovich PO, Mellies MJ, Pickering J
Clin Ther 1989;11(1):69-83. PMID: 2655907
Seidehamel RJ
Cardiology 1989;76 Suppl 1:23-8; discussion 29-32. doi: 10.1159/000174544. PMID: 2653622
Parker F
J Am Acad Dermatol 1985 Jul;13(1):1-30. doi: 10.1016/s0190-9622(85)70139-9. PMID: 4031142
Stuyt PM, Stalenhoef AF, Demacker PN, Van 't Laar A
Atherosclerosis 1985 Apr;55(1):51-62. doi: 10.1016/0021-9150(85)90165-0. PMID: 3924065

Prognosis

Talmud PJ
Atherosclerosis 2007 Oct;194(2):287-92. Epub 2007 Jan 12 doi: 10.1016/j.atherosclerosis.2006.12.010. PMID: 17222847
Chait A, Brunzell JD
Adv Intern Med 1992;37:249-73. PMID: 1557997
Crepaldi G, Avogaro P, Descovich GC, Di Perri T, Postiglione A, Sirtori CR, Strano A, Ventura S, Musatti L
Atherosclerosis 1988 Mar;70(1-2):115-21. doi: 10.1016/0021-9150(88)90105-0. PMID: 3281679
Dinsmore RE, Lees RS
AJR Am J Roentgenol 1985 May;144(5):895-9. doi: 10.2214/ajr.144.5.895. PMID: 3872572
Sabesin SM, Bertram PD, Freeman MR
Adv Intern Med 1980;25:117-46. PMID: 6987838

Clinical prediction guides

Johansen CT, Hegele RA
Curr Opin Lipidol 2011 Aug;22(4):247-53. doi: 10.1097/MOL.0b013e3283471972. PMID: 21519249
Bai H, Liu R, Liu Y, Saku K, Liu BW
Acta Cardiol 2008 Jun;63(3):315-22. doi: 10.2143/AC.63.3.1020307. PMID: 18664021
Talmud PJ
Atherosclerosis 2007 Oct;194(2):287-92. Epub 2007 Jan 12 doi: 10.1016/j.atherosclerosis.2006.12.010. PMID: 17222847
Malle E, Sattler W, Prenner E, Leis HJ, Karàdi I, Knipping G, Romics L, Kostner GM
Atherosclerosis 1991 Apr;87(2-3):159-67. doi: 10.1016/0021-9150(91)90018-x. PMID: 1854362
Tercé F, Milne RW, Weech PK, Davignon J, Marcel YL
Arteriosclerosis 1985 Mar-Apr;5(2):201-11. doi: 10.1161/01.atv.5.2.201. PMID: 3977778

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