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Atherosclerosis

MedGen UID:
13948
Concept ID:
C0004153
Disease or Syndrome
Synonym: Atheroscleroses
SNOMED CT: Atherosclerosis (38716007); Atheromatosis (38716007)
 
HPO: HP:0002621
Monarch Initiative: MONDO:0005311

Definition

A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. [from HPO]

Conditions with this feature

Tangier disease
MedGen UID:
52644
Concept ID:
C0039292
Disease or Syndrome
Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein (HDL) in the circulation resulting in tissue accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, hepatosplenomegaly, and peripheral neuropathy, which may be either relapsing-remitting or chronic progressive in nature. Rarer complications may include corneal opacities that typically do not affect vision, premature atherosclerotic coronary artery disease occurring in the sixth and seventh decades of life (not usually before age 40 years), and mild hematologic manifestations, such as mild thrombocytopenia, reticulocytosis, stomatocytosis, or hemolytic anemia. The clinical expression of Tangier disease is variable, with some affected individuals only showing biochemical perturbations.
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Disease or Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.
Familial partial lipodystrophy, Dunnigan type
MedGen UID:
354526
Concept ID:
C1720860
Disease or Syndrome
Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
MedGen UID:
332067
Concept ID:
C1835813
Disease or Syndrome
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.
Hypercholesterolemia, familial, 4
MedGen UID:
400313
Concept ID:
C1863512
Disease or Syndrome
Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).

Professional guidelines

PubMed

Virani SS, Newby LK, Arnold SV, Bittner V, Brewer LC, Demeter SH, Dixon DL, Fearon WF, Hess B, Johnson HM, Kazi DS, Kolte D, Kumbhani DJ, LoFaso J, Mahtta D, Mark DB, Minissian M, Navar AM, Patel AR, Piano MR, Rodriguez F, Talbot AW, Taqueti VR, Thomas RJ, van Diepen S, Wiggins B, Williams MS
Circulation 2023 Aug 29;148(9):e9-e119. Epub 2023 Jul 20 doi: 10.1161/CIR.0000000000001168. PMID: 37471501
Neeland IJ, Ross R, Després JP, Matsuzawa Y, Yamashita S, Shai I, Seidell J, Magni P, Santos RD, Arsenault B, Cuevas A, Hu FB, Griffin B, Zambon A, Barter P, Fruchart JC, Eckel RH; International Atherosclerosis Society; International Chair on Cardiometabolic Risk Working Group on Visceral Obesity
Lancet Diabetes Endocrinol 2019 Sep;7(9):715-725. Epub 2019 Jul 10 doi: 10.1016/S2213-8587(19)30084-1. PMID: 31301983
Arnett DK, Blumenthal RS, Albert MA, Buroker AB, Goldberger ZD, Hahn EJ, Himmelfarb CD, Khera A, Lloyd-Jones D, McEvoy JW, Michos ED, Miedema MD, Muñoz D, Smith SC Jr, Virani SS, Williams KA Sr, Yeboah J, Ziaeian B
Circulation 2019 Sep 10;140(11):e596-e646. Epub 2019 Mar 17 doi: 10.1161/CIR.0000000000000678. PMID: 30879355Free PMC Article

Recent clinical studies

Etiology

Jebari-Benslaiman S, Galicia-García U, Larrea-Sebal A, Olaetxea JR, Alloza I, Vandenbroeck K, Benito-Vicente A, Martín C
Int J Mol Sci 2022 Mar 20;23(6) doi: 10.3390/ijms23063346. PMID: 35328769Free PMC Article
Fan J, Watanabe T
Pathol Int 2022 Mar;72(3):151-160. Epub 2022 Jan 25 doi: 10.1111/pin.13202. PMID: 35076127
Libby P
Nature 2021 Apr;592(7855):524-533. Epub 2021 Apr 21 doi: 10.1038/s41586-021-03392-8. PMID: 33883728
Pedro-Botet J, Climent E, Benaiges D
Med Clin (Barc) 2020 Sep 25;155(6):256-262. Epub 2020 Jun 20 doi: 10.1016/j.medcli.2020.04.024. PMID: 32571617
Poznyak A, Grechko AV, Poggio P, Myasoedova VA, Alfieri V, Orekhov AN
Int J Mol Sci 2020 Mar 6;21(5) doi: 10.3390/ijms21051835. PMID: 32155866Free PMC Article

Diagnosis

Meng H, Ruan J, Yan Z, Chen Y, Liu J, Li X, Meng F
Int J Mol Sci 2022 Aug 11;23(16) doi: 10.3390/ijms23168939. PMID: 36012202Free PMC Article
He L, Zhang CL, Chen Q, Wang L, Huang Y
Pharmacol Ther 2022 Jul;235:108152. Epub 2022 Feb 2 doi: 10.1016/j.pharmthera.2022.108152. PMID: 35122834
Riccardi G, Giosuè A, Calabrese I, Vaccaro O
Cardiovasc Res 2022 Mar 25;118(5):1188-1204. doi: 10.1093/cvr/cvab173. PMID: 34229346
Marchio P, Guerra-Ojeda S, Vila JM, Aldasoro M, Victor VM, Mauricio MD
Oxid Med Cell Longev 2019;2019:8563845. Epub 2019 Jul 1 doi: 10.1155/2019/8563845. PMID: 31354915Free PMC Article
Nezu T, Hosomi N, Aoki S, Matsumoto M
J Atheroscler Thromb 2016;23(1):18-31. Epub 2015 Oct 13 doi: 10.5551/jat.31989. PMID: 26460381

Therapy

Malick WA, Goonewardena SN, Koenig W, Rosenson RS
J Am Coll Cardiol 2023 Apr 25;81(16):1633-1645. doi: 10.1016/j.jacc.2023.02.033. PMID: 37076218
Deroissart J, Porsch F, Koller T, Binder CJ
Handb Exp Pharmacol 2022;270:359-404. doi: 10.1007/164_2021_505. PMID: 34251531
Soehnlein O, Libby P
Nat Rev Drug Discov 2021 Aug;20(8):589-610. Epub 2021 May 11 doi: 10.1038/s41573-021-00198-1. PMID: 33976384Free PMC Article
Libby P, Everett BM
Arterioscler Thromb Vasc Biol 2019 Apr;39(4):538-545. doi: 10.1161/ATVBAHA.118.310958. PMID: 30816799Free PMC Article
Hopkins AL, Lamm MG, Funk JL, Ritenbaugh C
Fitoterapia 2013 Mar;85:84-94. Epub 2013 Jan 17 doi: 10.1016/j.fitote.2013.01.003. PMID: 23333908Free PMC Article

Prognosis

Tromp J, Paniagua SMA, Lau ES, Allen NB, Blaha MJ, Gansevoort RT, Hillege HL, Lee DE, Levy D, Vasan RS, van der Harst P, van Gilst WH, Larson MG, Shah SJ, de Boer RA, Lam CSP, Ho JE
BMJ 2021 Mar 23;372:n461. doi: 10.1136/bmj.n461. PMID: 33758001Free PMC Article
Ouchi Y, Sasaki J, Arai H, Yokote K, Harada K, Katayama Y, Urabe T, Uchida Y, Hayashi M, Yokota N, Nishida H, Otonari T, Arai T, Sakuma I, Sakabe K, Yamamoto M, Kobayashi T, Oikawa S, Yamashita S, Rakugi H, Imai T, Tanaka S, Ohashi Y, Kuwabara M, Ito H
Circulation 2019 Sep 17;140(12):992-1003. Epub 2019 Aug 22 doi: 10.1161/CIRCULATIONAHA.118.039415. PMID: 31434507
Kim H, Caulfield LE, Garcia-Larsen V, Steffen LM, Coresh J, Rebholz CM
J Am Heart Assoc 2019 Aug 20;8(16):e012865. Epub 2019 Aug 7 doi: 10.1161/JAHA.119.012865. PMID: 31387433Free PMC Article
Ambale-Venkatesh B, Yang X, Wu CO, Liu K, Hundley WG, McClelland R, Gomes AS, Folsom AR, Shea S, Guallar E, Bluemke DA, Lima JAC
Circ Res 2017 Oct 13;121(9):1092-1101. Epub 2017 Aug 9 doi: 10.1161/CIRCRESAHA.117.311312. PMID: 28794054Free PMC Article
Renga B, Scavizzi F
Acta Cardiol 2017 Feb;72(1):2-8. doi: 10.1080/00015385.2017.1281560. PMID: 28597734

Clinical prediction guides

Arbab-Zadeh A
J Cardiovasc Comput Tomogr 2021 Jul-Aug;15(4):331-332. Epub 2021 Feb 25 doi: 10.1016/j.jcct.2021.02.003. PMID: 33676865
Alexander Y, Osto E, Schmidt-Trucksäss A, Shechter M, Trifunovic D, Duncker DJ, Aboyans V, Bäck M, Badimon L, Cosentino F, De Carlo M, Dorobantu M, Harrison DG, Guzik TJ, Hoefer I, Morris PD, Norata GD, Suades R, Taddei S, Vilahur G, Waltenberger J, Weber C, Wilkinson F, Bochaton-Piallat ML, Evans PC
Cardiovasc Res 2021 Jan 1;117(1):29-42. doi: 10.1093/cvr/cvaa085. PMID: 32282914Free PMC Article
Ambale-Venkatesh B, Yang X, Wu CO, Liu K, Hundley WG, McClelland R, Gomes AS, Folsom AR, Shea S, Guallar E, Bluemke DA, Lima JAC
Circ Res 2017 Oct 13;121(9):1092-1101. Epub 2017 Aug 9 doi: 10.1161/CIRCRESAHA.117.311312. PMID: 28794054Free PMC Article
O'Neal WT, Venkatesh S, Broughton ST, Griffin WF, Soliman EZ
Vasc Health Risk Manag 2016;12:297-303. Epub 2016 Jul 18 doi: 10.2147/VHRM.S75537. PMID: 27486329Free PMC Article
Homma Y
J Atheroscler Thromb 2004;11(5):265-70. doi: 10.5551/jat.11.265. PMID: 15557708

Recent systematic reviews

Zhang Y, Xin L, Xiang M, Shang C, Wang Y, Wang Y, Cui X, Lu Y
Biomed Pharmacother 2022 Jan;145:112423. Epub 2021 Nov 17 doi: 10.1016/j.biopha.2021.112423. PMID: 34800783
Nair AR, Pillai AJ, Nair N
Curr Cardiol Rev 2021;17(4):e230421187681. doi: 10.2174/1573403X16666201106141811. PMID: 33155924Free PMC Article
Song P, Fang Z, Wang H, Cai Y, Rahimi K, Zhu Y, Fowkes FGR, Fowkes FJI, Rudan I
Lancet Glob Health 2020 May;8(5):e721-e729. doi: 10.1016/S2214-109X(20)30117-0. PMID: 32353319
Xu S, Kamato D, Little PJ, Nakagawa S, Pelisek J, Jin ZG
Pharmacol Ther 2019 Apr;196:15-43. Epub 2018 Nov 13 doi: 10.1016/j.pharmthera.2018.11.003. PMID: 30439455Free PMC Article
Einarson TR, Acs A, Ludwig C, Panton UH
Cardiovasc Diabetol 2018 Jun 8;17(1):83. doi: 10.1186/s12933-018-0728-6. PMID: 29884191Free PMC Article

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