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| name = Takayasu's arteritis
| image = Takayasu Arteritis.jpg
| caption = Left anterior oblique [[Angiography|angiographic]] image of Takayasu's arteritis showing areas of [[stenosis]] in multiple [[great vessels]]
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| pronounce =
| field =
| synonyms = '''Takayasu
| symptoms =
| complications =
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'''Takayasu's arteritis''' ('''TA'''), also known as '''aortic arch syndrome''', '''nonspecific aortoarteritis''', and '''pulseless disease''',<ref name=Andrew2020>{{cite book |last1=James |first1=William D. |last2=Elston |first2=Dirk |last3=Treat |first3=James R. |last4=Rosenbach |first4=Misha A. |last5=Neuhaus |first5=Isaac |title=Andrews' Diseases of the Skin: Clinical Dermatology |date=2020 |publisher=Elsevier |location=Edinburgh|isbn=978-0-323-54753-6 |page=850 |edition=13th |chapter-url=https://books.google.com/books?id=UEaEDwAAQBAJ
|archive-date=2010-10-30 }}</ref> with massive [[intima]]l [[fibrosis]] and vascular narrowing, most commonly affecting young or middle- Those with the disease often notice symptoms between 15 and 30 years of age. In the [[Western world]], [[atherosclerosis]] is a more frequent cause of obstruction of the aortic arch vessels than Takayasu's arteritis. Takayasu's arteritis is similar to other forms of vasculitis, including [[giant cell arteritis]] which typically affects older individuals.<ref name=mk /> Due to obstruction of the main branches of the aorta, including the left [[common carotid artery]], the [[brachiocephalic artery]], and the left [[subclavian artery]], Takayasu's arteritis can present as pulseless upper extremities (arms, hands, and wrists with weak or absent pulses on the physical examination) which may be why it is also commonly referred to as the "pulseless disease." Involvement of renal arteries may lead to a presentation of renovascular hypertension.
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Some people develop an initial "inflammatory phase" characterized by systemic illness with signs and [[symptom]]s of [[malaise]], [[fever]], [[sleep hyperhidrosis|night sweats]], [[weight loss]], [[arthralgia|joint pain]], [[fatigue (physical)|fatigue]], and [[Syncope (medicine)|fainting]]. Fainting may result from [[subclavian steal syndrome]] or [[carotid sinus]] hypersensitivity.<ref name="Shikino">{{cite journal|last1=Shikino|first1=Kiyoshi|last2=Masuyama|first2=Takako|last3=Ikusaka|first3=Masatomi|title=FDG-PET of Takayasu's Arteritis|journal=Journal of General Internal Medicine|date=2014|volume=29|issue=7|pages=1072–1073|doi=10.1007/s11606-013-2695-7|issn=0884-8734|pmc=4061346|pmid=24408276}}</ref> There is also often [[anemia]] and marked elevation of the [[Erythrocyte sedimentation rate|ESR]] or [[C-reactive protein]] (nonspecific markers of inflammation). The initial "inflammatory phase" is often followed by a secondary "pulseless phase".<ref name=mk /> The "pulseless phase" is characterized by vascular insufficiency from intimal narrowing of the vessels manifesting as arm or leg [[claudication]], [[renal artery stenosis]] causing hypertension, and neurological manifestations due to decreased blood flow to the brain.<ref name=mk />
Of note is the function of renal artery stenosis in the causation of high blood pressure: Normally perfused kidneys produce a proportionate amount of a substance called [[renin]]. Stenosis of the renal arteries causes hypoperfusion (decreased blood flow) of the [[juxtaglomerular apparatus]], resulting in exaggerated secretion of renin, and high blood levels of [[aldosterone]], eventually leading to water and salt retention and high blood pressure. The neurological symptoms of the disease vary depending on the degree; the nature of the blood vessel obstruction; and can range from lightheadedness to seizures (in severe cases). One rare, important feature of the Takayasu's arteritis is [[human eye|ocular]] involvement in form of visual field defects, vision loss, or retinal hemorrhage.<ref name=kaplan /><ref>{{cite journal|title=Ocular manifestations of the aortic arch syndrome (pulseless disease; Takayasu's disease) (Translated from French)|vauthors=Milan B, Josip K |date=November 1967| issue=11 | volume=200 | pmid=6079381|pages=1168–79|journal=[[Annales d'
[[File:Takayasu LDH.jpg|thumb|600px|Blood flow pulse wave in the central retinal artery (red) and vein (blue), measured in the eye fundus of a patient with Takayasu arteritis by [[laser Doppler imaging]].]]
[[Laser Doppler imaging]] by near-infrared [[digital holography]] can reveal characteristic blood flow waveforms in the central artery and vein of the retina in patients with vascular insufficiency who may exhibit a smooth systo-diastolic [[pulse]] in the [[central retinal artery]]. This technique enables non invasive functional [[microangiography]] by high-contrast measurement of endoluminal blood flow profiles in vessels in the posterior segment of the eye with a spatial resolution comparable to state-of-the-art [[indocyanine green]] angiography.{{cn|date=October 2020}}
==
[[File:Takayasu arteritis.JPG|thumb|Axial T1-weighted post-[[MRI contrast agent#Gadolinium
Although the [[etiology|cause]] of Takayasu arteritis is unknown, the condition is characterized by segmental and patchy [[granuloma]]tous [[inflammation]] of the aorta and its major derivative branches. This inflammation leads to arterial [[stenosis]], [[thrombosis]], and [[aneurysm]]s.<ref name=emedpedtakay /> There is irregular fibrosis of the blood vessels due to chronic vasculitis, leading to sometimes massive intimal fibrosis (fibrosis of the inner section of the blood vessels).<ref name=kaplan>John Barone, M.D. USMLE Step 1 Lecture Notes. "Vascular Pathology." 2008, Kaplan Inc. pg 101.</ref> Prominent narrowing due to inflammation, granuloma, and fibrosis is often seen in arterial studies such as [[magnetic resonance angiography]] (MRA), [[computed tomography angiography]] (CTA), or arterial [[angiography]] (DSA).{{cn|date=October 2020}}
===Genetics===
The genetic contribution to the pathogenesis of Takayasu's arteritis is supported by the genetic association with HLA-B∗52. A 2013 large collaborative study uncovered multiple additional susceptibility loci for this disease, increasing its number of genetic loci to five risk loci across the genome.<ref name=SARUHAN2013>{{cite journal|last1=Saruhan-Direskeneli|first1=Güher|last2=Hughes|first2=Travis |last3=Aksu|first3=Kenan|last4=Keser|first4=Gokhan |last5=Coit|first5=Patrick|last6=Aydin|first6=Sibel Z.|last7=Alibaz-Oner|first7=Fatma|last8=Kamalı|first8=Sevil|last9=Inanc |first9=Murat|last10=Carette|first10=Simon|last11=Hoffman|first11=Gary S.|last12=Akar|first12=Servet|last13=Onen|first13=Fatos |last14=Akkoc|first14=Nurullah|last15=Khalidi|first15=Nader A.|last16=Koening|first16=Curry|last17=Karadag |first17=Omer|last18=Kiraz|first18=Sedat |last19=Langford|first19=Carol A.|last20=McAlear|first20=Carol A.|last21=Ozbalkan|first21=Zeynep |last22=Ates|first22=Askin|last23=Karaaslan |first23=Yasar|last24=Maksimowicz-McKinnon|first24=Kathleen|last25=Monach |first25=Paul A.|last26=Ozer|first26=Hüseyin T.|last27=Seyahi|first27=Emire|last28=Fresko |first28=Izzet|last29=Cefle|first29=Ayse|last30=Seo |first30=Philip|last31=Warrington|first31=Kenneth J.|last32=Ozturk|first32=Mehmet A.|last33=Ytterberg|first33=Steven R.|last34=Cobankara|first34=Veli|last35=Onat |first35=A. Mesut|last36=Guthridge|first36=Joel M.|last37=James|first37=Judith A.|last38=Tunc|first38=Ercan|last39=Duzgun |first39=Nurşen|last40=Bıcakcıgil|first40=Muge |last41=Yentür|first41=Sibel P.|last42=Merkel|first42=Peter A.|last43=Direskeneli|first43=Haner|last44=Sawalha |first44=Amr H.|title=Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis|journal=American Journal of Human Genetics|date=Jul 2, 2013|pmid=23830517|volume=93|issue=2|pages=298–305|doi=10.1016/j.ajhg.2013.05.026|pmc=3738826}}</ref> About 200,000 genetic variants were genotyped in two ethnically divergent Takayasu's arteritis cohorts from Turkey and North America by using a custom-designed genotyping platform (Immunochip). Additional genetic variants and the classical HLA alleles were imputed and analyzed. The study identified and confirmed two independent susceptibility loci within the HLA region (r2 < 0.2): HLA-B/MICA (rs12524487, OR = 3.29, p = 5.57 × 10-16) and HLA-DQB1/HLA-DRB1 (rs113452171, OR = 2.34, p = 3.74 × 10-9; and rs189754752, OR = 2.47, p = 4.22 × 10-9). In addition, a genetic association was identified and confirmed between Takayasu's arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10-12). The risk allele at this locus results in increased mRNA expression of FCGR2A. In addition, a genetic association between IL12B and Takayasu arteritis was established (rs56167332, OR = 1.54, p = 2.18 × 10-8). A fifth genetic locus for the disease in an intergenic region on chromosome 21q22 downstream of PSMG1 was revealed (P=4.39X10-7).<ref name="SARUHAN2013"/> A recent genome-wide association study (GWAS) identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) ([[odds ratio]] [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and the intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). The genetic susceptibility locus in RPS9/LILRB3 lies within the leukocyte receptor complex gene cluster on chromosome 19q13.4, and the disease risk variant in this locus correlates with reduced expression of multiple genes including the inhibitory leukocyte immunoglobulin-like receptor gene LILRB3 (P = 2.29 × 10(-8)). In addition, this study identified additional candidate susceptibility genes with suggestive levels of association (P < 1 × 10(-5)) including PCSK5, LILRA3, PPM1G/NRBP1, and PTK2B.<ref>{{cite journal|vauthors=Renauer PA, Saruhan-Direskeneli G, Coit P, Adler A, Aksu K, Keser G, Alibaz-Oner F, Aydin SZ, Kamali S, Inanc M, Carette S, Cuthbertson D, Hoffman GS, Akar S, Onen F, Akkoc N, Khalidi NA, Koening C, Karadag O, Kiraz S, Langford CA, Maksimowicz-McKinnon K, McAlear CA, Ozbalkan Z, Ates A, Karaaslan Y, Duzgun N, Monach PA, Ozer HT, Erken E, Ozturk MA, Yazici A, Cefle A, Onat AM, Kisacik B, Pagnoux C, Kasifoglu T, Seyahi E, Fresko I, Seo P, Sreih AG, Warrington KJ, Ytterberg SR, Cobankara V, Cunninghame-Graham DS, Vyse TJ, Pamuk ON, Tunc SE, Dalkilic E, Bicakcigil M, Yentur SP, Wren JD, Merkel PA, Direskeneli H, Sawalha AH |title=Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study |journal=[[Arthritis & Rheumatology]] |date=27 April 2015 |volume=67|issue=5|pages=1361–8 |doi=10.1002/art.39035|pmid=25604533 |pmc=4414813}}</ref>
Another gene associated with this condition is ''[[MLX (gene)|MLX]]'' (Max-like protein X)
==Diagnosis==
Diagnosis is based on the demonstration of vascular lesions in large and middle-sized vessels on angiography, [[CT scan]], [[magnetic resonance angiography]] or [[Positron emission tomography|FDG PET]].<ref name="Vasculitis in Clinical Medicine">RA Watts et al., "Vasculitis in Clinical Medicine, 2010"</ref> Seeing abnormal diffuse arterial wall thickening, the 'macaroni sign', with [[Medical ultrasound|ultrasound]] is highly suggestive of the condition.<ref name="RussoKatsicas2018">{{cite journal|last1=Russo|first1=Ricardo A. G.|last2=Katsicas|first2=María M.|title=Takayasu Arteritis|journal=Frontiers in Pediatrics|volume=6|year=2018|page=265 |issn=2296-2360|doi=10.3389/fped.2018.00265|pmid=30338248 |pmc=6165863|doi-access=free}}</ref> FDG PET can help in diagnosis of active inflammation not just in patients with active Takayasu arteritis prior to treatment but also in addition in relapsing patients receiving immunosuppressive agents.<ref name="Shikino" /><ref>{{cite journal|last1=Tezuka|first1=Daisuke|last2=Haraguchi |first2=Go |last3=Ishihara|first3=Takashi|last4=Ohigashi |first4=Hirokazu|last5=Inagaki|first5=Hiroshi |last6=Suzuki|first6=Jun-ichi|last7=Hirao|first7=Kenzo|last8=Isobe |first8=Mitsuaki|title=Role of FDG PET-CT in Takayasu Arteritis|journal=JACC: Cardiovascular Imaging |date=April 2012|volume=5|issue=4|pages=422–429|doi=10.1016/j.jcmg.2012.01.013|pmid=22498333|doi-access=free}}</ref>
Contrast angiography has been the gold standard. The earliest detectable lesion is a local narrowing or irregularity of the lumen. This may develop into stenosis and occlusion. The characteristic finding is the presence of "skip lesions," where stenosis or aneurysms alternate with normal vessels. Angiography provides information on vessel anatomy and patency but does not provide information on the degree of inflammation in the wall.<ref name="Vasculitis in Clinical Medicine" />
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==Treatments==
Most people with
Promising results are achieved with [[mycophenolate]] and [[tocilizumab]].<ref>Singh, Ambrish et al., Efficacy and safety of tocilizumab in treatment of Takayasu arteritis: A systematic review of randomized controlled trials. Mod Rheumatol. 2020;31:1-20 [[doi:
Patients who do not respond to steroids may require revascularization, either via [[vascular bypass]] or [[Angioplasty|angioplasty and stenting]]. Outcomes following revascularization vary depending on the severity of the underlying disease.
==History==
The first case of
It is now known that the blood vessel malformations that occur in the retina are an [[Angiogenesis|angiogenic]] response to the arterial narrowings in the neck and that the absence of pulses noted in some people occurs because of narrowings of the blood vessels to the arms. The eye findings described by Takayasu are rarely seen in patients from [[North America]] and British Columbia.{{Citation needed|date=February 2012}}
==
{{reflist}}
==Further reading==
* {{cite journal|last1=Vinayakumar|first1=Desabandhu |last2=Sulaiman|first2=Sherief|last3=Bastian |first3=Cicy|last4=Rajasekharan|first4=Sandeep |title=Transradial retrograde percutaneous transluminal angioplasty with stenting of long segment occlusion of subclavian artery|journal=Journal of Cardiology Cases |date=April 2017|volume=15|issue=4|pages=119–121|doi=10.1016/j.jccase.2016.12.002 |pmid=30279756|pmc=6135029 | ref=none}}
==
{{Medical resources
| ICD10 = {{ICD10|M|31|4|m|30}}
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