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Atherosclerosis

MedGen UID:
505298
Concept ID:
CN002382
Finding
 
HPO: HP:0002621

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

Lysosomal acid lipase deficiency
MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Congenital Abnormality
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, even within the same family. 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. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss 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 type 2 diabetes in the majority by the third decade. Nearly all demonstrate associated dyslipidemia. Other endocrine abnormalities can include hypothyroidism, hypogonadotropic hypogonadism in boys, and polycystic ovaries in girls. More than 60% of individuals with Alström syndrome develop cardiac failure as a result of dilated or restrictive cardiomyopathy. About 50% of individuals have delay in early developmental milestones; intelligence is normal. Liver involvement includes elevation of transaminases, steatosis, hepatosplenomegaly, and steatohepatitis. Portal hypertension and cirrhosis can lead to hepatic encephalopathy and life-threatening esophageal varices. Pulmonary dysfunction and severe renal disease may also develop. End-stage renal disease (ESRD) can occur as early as the late teens.
Flynn-Aird syndrome
MedGen UID:
91009
Concept ID:
C0343108
Congenital Abnormality
Odontotrichomelic syndrome
MedGen UID:
98034
Concept ID:
C0406723
Congenital Abnormality
The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) noted that optic atrophy is not a consistent feature of this disorder.
Cockayne syndrome type C
MedGen UID:
196713
Concept ID:
C0751037
Disease or Syndrome
Cockayne syndrome is a rare disorder characterized by short stature and an appearance of premature aging. Features of this disorder include a failure to gain weight and grow at the expected rate (failure to thrive), abnormally small head size (microcephaly), and impaired development of the nervous system. Affected individuals have an extreme sensitivity to sunlight (photosensitivity), and even a small amount of sun exposure can cause a sunburn. Other possible signs and symptoms include hearing loss, eye abnormalities, severe tooth decay, bone abnormalities, and changes in the brain that can be seen on brain scans. Cockayne syndrome can be divided into subtypes, which are distinguished by the severity and age of onset of symptoms. Classical, or type I, Cockayne syndrome is characterized by an onset of symptoms in early childhood (usually after age 1 year). Type II Cockayne syndrome has much more severe symptoms that are apparent at birth (congenital). Type II Cockayne syndrome is sometimes called cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome type II. Type III Cockayne syndrome has the mildest symptoms of the three types and appears later in childhood.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
266127
Concept ID:
C1272305
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Lipodystrophy, familial partial, type 2
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; and FPLD6 (615980) is caused by mutation in the LIPe gene (151750) on chromosome 19q13.
Odontoma dysphagia syndrome
MedGen UID:
320249
Concept ID:
C1834013
Disease or Syndrome
Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia
MedGen UID:
372027
Concept ID:
C1835360
Disease or Syndrome
LIPOPROTEIN(a) DEFICIENCY, CONGENITAL
MedGen UID:
331958
Concept ID:
C1835362
Disease or Syndrome
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
MedGen UID:
332067
Concept ID:
C1835813
Disease or Syndrome
Coronary artery disease, susceptibility to
MedGen UID:
333498
Concept ID:
C1840169
Gene or Genome
Ehlers-Danlos-like syndrome due to tenascin-X deficiency
MedGen UID:
336244
Concept ID:
C1848029
Disease or Syndrome
Tenascin-X deficiency leads to a clinically distinct form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility. For further background information on EDS, see 130000.
Growth factors, combined defect of
MedGen UID:
341099
Concept ID:
C1856243
Disease or Syndrome
Feigenbaum Bergeron Richardson syndrome
MedGen UID:
349198
Concept ID:
C1859596
Disease or Syndrome
Hypercholesterolemia, autosomal recessive
MedGen UID:
400313
Concept ID:
C1863512
Disease or Syndrome
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.
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome

Recent clinical studies

Etiology

Gurses KM, Tokgozoglu L, Yalcin MU, Kocyigit D, Dural M, Canpinar H, Yorgun H, Sahiner ML, Kaya EB, Akin S, Gurlek A, Guc D, Aytemir K
Atherosclerosis 2014 Dec;237(2):784-9. Epub 2014 Oct 29 doi: 10.1016/j.atherosclerosis.2014.10.096. [Epub ahead of print] PMID: 25463121
Murray SW, Cooper RM, Appleby C, McCann C, Binukrishnan S, Radu MD, Stables RH
Atherosclerosis 2014 Nov;237(1):264-7. Epub 2014 Sep 30 doi: 10.1016/j.atherosclerosis.2014.09.018. [Epub ahead of print] PMID: 25282686
Kosaka T, Kokubo Y, Ono T, Sekine S, Kida M, Kikui M, Yamamoto M, Watanabe M, Amano A, Maeda Y, Miyamoto Y
Atherosclerosis 2014 Nov;237(1):123-8. Epub 2014 Sep 6 doi: 10.1016/j.atherosclerosis.2014.08.046. [Epub ahead of print] PMID: 25238219
Zheng TP, Yang F, Gao Y, Baskota A, Chen T, Tian HM, Ran XW
Atherosclerosis 2014 Aug;235(2):619-24. Epub 2014 Jun 8 doi: 10.1016/j.atherosclerosis.2014.05.956. [Epub ahead of print] PMID: 24968315
Shimizu Y, Sato S, Koyamatsu J, Yamanashi H, Tamai M, Kadota K, Arima K, Yamasaki H, Takamura N, Aoyagi K, Maeda T
Atherosclerosis 2014 Apr;233(2):525-9. Epub 2014 Jan 27 doi: 10.1016/j.atherosclerosis.2014.01.033. [Epub ahead of print] PMID: 24530789

Diagnosis

Murray SW, Cooper RM, Appleby C, McCann C, Binukrishnan S, Radu MD, Stables RH
Atherosclerosis 2014 Nov;237(1):264-7. Epub 2014 Sep 30 doi: 10.1016/j.atherosclerosis.2014.09.018. [Epub ahead of print] PMID: 25282686
Bhatt PM, Malgor R
Atherosclerosis 2014 Nov;237(1):155-62. Epub 2014 Sep 3 doi: 10.1016/j.atherosclerosis.2014.08.027. [Epub ahead of print] PMID: 25240110Free PMC Article
Hansel B, Carrié A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E
Atherosclerosis 2014 May;234(1):162-8. Epub 2014 Mar 11 doi: 10.1016/j.atherosclerosis.2014.02.030. [Epub ahead of print] PMID: 24657386
Gómez M, Vila J, Elosua R, Molina L, Bruguera J, Sala J, Masià R, Covas MI, Marrugat J, Fitó M
Atherosclerosis 2014 Jan;232(1):134-40. Epub 2013 Nov 7 doi: 10.1016/j.atherosclerosis.2013.10.026. [Epub ahead of print] PMID: 24401227
Kang SJ, Kim D, Park HE, Chung GE, Choi SH, Choi SY, Lee W, Kim JS, Cho SH
Atherosclerosis 2013 Oct;230(2):242-8. Epub 2013 Jul 20 doi: 10.1016/j.atherosclerosis.2013.06.021. [Epub ahead of print] PMID: 24075751

Therapy

Gurses KM, Tokgozoglu L, Yalcin MU, Kocyigit D, Dural M, Canpinar H, Yorgun H, Sahiner ML, Kaya EB, Akin S, Gurlek A, Guc D, Aytemir K
Atherosclerosis 2014 Dec;237(2):784-9. Epub 2014 Oct 29 doi: 10.1016/j.atherosclerosis.2014.10.096. [Epub ahead of print] PMID: 25463121
Murray SW, Cooper RM, Appleby C, McCann C, Binukrishnan S, Radu MD, Stables RH
Atherosclerosis 2014 Nov;237(1):264-7. Epub 2014 Sep 30 doi: 10.1016/j.atherosclerosis.2014.09.018. [Epub ahead of print] PMID: 25282686
Lei X, Basu D, Li Z, Zhang M, Rudic RD, Jiang XC, Jin W
Atherosclerosis 2014 Sep;236(1):121-30. Epub 2014 Jul 1 doi: 10.1016/j.atherosclerosis.2014.06.015. [Epub ahead of print] PMID: 25026302
Jahagirdar R, Zhang H, Azhar S, Tobin J, Attwell S, Yu R, Wu J, McLure KG, Hansen HC, Wagner GS, Young PR, Srivastava RA, Wong NC, Johansson J
Atherosclerosis 2014 Sep;236(1):91-100. Epub 2014 Jun 28 doi: 10.1016/j.atherosclerosis.2014.06.008. [Epub ahead of print] PMID: 25016363
Gómez M, Vila J, Elosua R, Molina L, Bruguera J, Sala J, Masià R, Covas MI, Marrugat J, Fitó M
Atherosclerosis 2014 Jan;232(1):134-40. Epub 2013 Nov 7 doi: 10.1016/j.atherosclerosis.2013.10.026. [Epub ahead of print] PMID: 24401227

Prognosis

Gurses KM, Tokgozoglu L, Yalcin MU, Kocyigit D, Dural M, Canpinar H, Yorgun H, Sahiner ML, Kaya EB, Akin S, Gurlek A, Guc D, Aytemir K
Atherosclerosis 2014 Dec;237(2):784-9. Epub 2014 Oct 29 doi: 10.1016/j.atherosclerosis.2014.10.096. [Epub ahead of print] PMID: 25463121
Vrijenhoek JE, Haitjema S, de Borst GJ, de Vries JP, Vaartjes I, Moll FL, Pasterkamp G, den Ruijter HM
Atherosclerosis 2014 Dec;237(2):521-7. Epub 2014 Oct 18 doi: 10.1016/j.atherosclerosis.2014.10.010. [Epub ahead of print] PMID: 25463084
Zheng TP, Yang F, Gao Y, Baskota A, Chen T, Tian HM, Ran XW
Atherosclerosis 2014 Aug;235(2):619-24. Epub 2014 Jun 8 doi: 10.1016/j.atherosclerosis.2014.05.956. [Epub ahead of print] PMID: 24968315
Goldberg S, Gardener H, Tiozzo E, Ying Kuen C, Elkind MS, Sacco RL, Rundek T
Atherosclerosis 2014 Aug;235(2):273-80. Epub 2014 Apr 30 doi: 10.1016/j.atherosclerosis.2014.04.019. [Epub ahead of print] PMID: 24887016Free PMC Article
Gómez M, Vila J, Elosua R, Molina L, Bruguera J, Sala J, Masià R, Covas MI, Marrugat J, Fitó M
Atherosclerosis 2014 Jan;232(1):134-40. Epub 2013 Nov 7 doi: 10.1016/j.atherosclerosis.2013.10.026. [Epub ahead of print] PMID: 24401227

Clinical prediction guides

Gurses KM, Tokgozoglu L, Yalcin MU, Kocyigit D, Dural M, Canpinar H, Yorgun H, Sahiner ML, Kaya EB, Akin S, Gurlek A, Guc D, Aytemir K
Atherosclerosis 2014 Dec;237(2):784-9. Epub 2014 Oct 29 doi: 10.1016/j.atherosclerosis.2014.10.096. [Epub ahead of print] PMID: 25463121
Jahagirdar R, Zhang H, Azhar S, Tobin J, Attwell S, Yu R, Wu J, McLure KG, Hansen HC, Wagner GS, Young PR, Srivastava RA, Wong NC, Johansson J
Atherosclerosis 2014 Sep;236(1):91-100. Epub 2014 Jun 28 doi: 10.1016/j.atherosclerosis.2014.06.008. [Epub ahead of print] PMID: 25016363
Zheng TP, Yang F, Gao Y, Baskota A, Chen T, Tian HM, Ran XW
Atherosclerosis 2014 Aug;235(2):619-24. Epub 2014 Jun 8 doi: 10.1016/j.atherosclerosis.2014.05.956. [Epub ahead of print] PMID: 24968315
Hansel B, Carrié A, Brun-Druc N, Leclert G, Chantepie S, Coiffard AS, Kahn JF, Chapman MJ, Bruckert E
Atherosclerosis 2014 May;234(1):162-8. Epub 2014 Mar 11 doi: 10.1016/j.atherosclerosis.2014.02.030. [Epub ahead of print] PMID: 24657386
Shendre A, Irvin MR, Aouizerat BE, Wiener HW, Vazquez AI, Anastos K, Lazar J, Liu C, Karim R, Limdi NA, Cohen MH, Golub ET, Zhi D, Kaplan RC, Shrestha S
Atherosclerosis 2014 Apr;233(2):666-72. Epub 2014 Jan 30 doi: 10.1016/j.atherosclerosis.2014.01.035. [Epub ahead of print] PMID: 24561552Free PMC Article

Recent systematic reviews

He C, Yang Z, Lu NH
J Atheroscler Thromb 2014;21(12):1229-42. Epub 2014 Oct 24 [Epub ahead of print] PMID: 25342566
Tam LS, Kitas GD, González-Gay MA
Rheumatology (Oxford) 2014 Jun;53(6):1108-19. doi: 10.1093/rheumatology/ket454. [Epub ahead of print] PMID: 24501245
Wu G, Li H, Zhou M, Fang Q, Bao Y, Xu A, Jia W
Diabetes Metab Res Rev 2014 Sep;30(6):447-56. doi: 10.1002/dmrr.2493. PMID: 24214285
Mani S, Untereiner A, Wu L, Wang R
Antioxid Redox Signal 2014 Feb 10;20(5):805-17. Epub 2013 May 21 doi: 10.1089/ars.2013.5324. [Epub ahead of print] PMID: 23582095
Björkbacka H, Fredrikson GN, Nilsson J
Atherosclerosis 2013 Mar;227(1):9-17. Epub 2012 Nov 6 doi: 10.1016/j.atherosclerosis.2012.10.074. [Epub ahead of print] PMID: 23177975

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