Takayasu's arteritis

Takayasu's arteritis

Left anterior oblique angiographic image of

Takayasu's arteritis showing areas of stenosis in
multiple great vessels
Classification and external resources
ICD-10

M31.4

ICD-9

446.7

OMIM

207600

DiseasesDB 12879
MedlinePlus 001250
eMedicine

med/2232 ped/1956neuro/361 radio/51

MeSH

D013625

Takayasu's disease (also known as "aortic arch syndrome", "nonspecific aortoarteritis" and the
"pulseless disease"[1]:841) is a form of large vesselgranulomatous vasculitis[2] with
massive intimal fibrosis and vascular narrowing, affecting often young or middle-aged women
of Asian descent. It mainly affects the aorta (the main blood vessel leaving the heart) and its
branches, as well as the pulmonary arteries. Females are about 89 times more likely to be
affected than males.[2][3] 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.[2] Due to obstruction of the
main branches of the aorta, including the left common carotid artery, the brachiocephalic artery,
and the leftsubclavian 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 presentation as renovascular hypertension.
Contents
[hide]

1 Sign and symptoms

2 Pathophysiology

3 Diagnosis

4 Treatments

5 History

6 References

7 External links

Sign and symptoms[edit]

Some people develop an initial "inflammatory phase" characterized by systemic illness with
signs and symptoms of malaise,fever, night sweats, weight loss, joint pain, fatigue, and fainting.
Fainting may result from subclavian steal syndrome orcarotid sinus hypersensitivity.[4] There is
also often anemia and marked elevation of the ESR or C-reactive protein(nonspecific markers of
inflammation). The initial "inflammatory phase" is often followed by a secondary "pulseless
phase".[2] 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.[2] Of note
is the function of renal artery stenosis in causation of high blood pressure: Normally perfused

kidneys produce proportionate amount of a substance called renin. Stenosis of the renal arteries
causes hypo-perfusion (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, and the nature of the blood vessel obstruction and can range from
lightheadedness, to seizures in severe cases. One rare but important feature of the Takayasu's
arteritis is ocularinvolvement in form of visual field defects, vision loss, or retinal hemorrhage.[5]
[6]
Some individuals with Takayasu's arteritis may present with only late vascular changes,
without a preceding systemic illness. In the late stage, weakness of the arterial walls may give
rise to localized aneurysms. As with all aneurysms, possibility of rupture and vascular bleeding is
existent and requires monitoring. In view of chronic process and good collateral
development, Raynaud's phenomenon or digital gangrene are very rare in Takayasu arteritis.
Pathophysiology[edit]

Axial T1-weighted post-gadolinium MRI in a patient with Takayasu arteritis showing thickened,
enhancing aortic wall, consistent with large vessel vasculitis
Although its cause is unknown, the condition is characterized by segmental and
patchy granulomatous inflammation of the aorta and its major derivative branches. This
inflammation leads to arterial stenosis, thrombosis, and aneurysms.[3] There is also 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).[5] 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).
The genetic contribution to the pathogenesis of Takayasu's arteritis is supported by the genetic
association with HLA-B52. A recent large collaborative study uncovered multiple additional
susceptibility loci for this disease, increasing the number of genetic loci for this disease to five
risk loci across the genome.[7] 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 in 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 on chromosome 21q22 downstream of PSMG1 was also revealed (P=4.39X10-7).[7]
Diagnosis[edit]
Diagnosis is done with aortic arteriography or magnetic resonance angiography (MRA).
Treatments[edit]
This section does not cite any references or sources. Please help improve this
section by adding citations to reliable sources. Unsourced material may be
challenged and removed. (January 2015)
Most people with Takayasus arteritis respond to steroids such as prednisone. The usual starting
dose is approximately 1 milligram per kilogram of body weight per day (for most people, this is
approximately 60 milligrams a day). Because of the significant side effects of long-term high
dose prednisone use, the starting dose is tapered over several weeks to a dose that
the physician feels is tolerable for the patient. Promising results are achieved
with mycophenolate and tocilizumab. If treatment is not kept to a high standard then long term
damage or death can occur. Stress is a major factor that should be avoided at all costs; if this is
not taken into account the surge of adrenaline can have a damaging effect on the heart.
Surgical options may need to be explored for those who do not respond to steroids. Re-perfusion
of tissue can be achieved by large vessel reconstructive surgery such as bypass grafting. Grafting
autologous tissue has the highest rates of success. Stenting often obviates the need for surgery.
Percutaneous transluminal coronary angioplasty (PTCA) is not as effective in the long term but
has fewer risks.
History[edit]
The first case of Takayasus arteritis was described in 1908 by Japanese ophthalmologist Mikito
Takayasu at the Annual Meeting of the Japan Ophthalmology Society.[8][9] Takayasu described a
peculiar "wreathlike" appearance of the blood vessels in the back of the eye (retina).
Two Japanese physicians at the same meeting (Drs. Onishi and Kagoshima) also reported similar
eye findings in individuals whose wrist pulses were absent. It is now known that the blood vessel

malformations that occur in the retina are an 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].
References[edit]
1. Jump up^ James, William D.; Berger, Timothy G.; et al. (2006).Andrews'
Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-72162921-0.
2. ^ Jump up to:a b c d e American College of Physicians (ACP). Medical Knowledge
Self-Assessment Program (MKSAP-15): Rheumatology. "Systemic Vasculitis."
Pg. 6567. 2009, ACP.[1]
3. ^ Jump up to:a b Takayasu Arteritis - Pediatrics at eMedicine
4. Jump up^ Shikino Kiyoshi, Takako Masuyama and Masatomi Ikusaka. FDGPET of Takayasu Arteritis. JGIM 2014.
5. ^ Jump up to:a b John Barone, M.D. USMLE Step 1 Lecture Notes. "Vascular
Pathology." 2008, Kaplan Inc. pg 101.
6. Jump up^ Milan B, Josip K. (November 1967). "Ocular manifestations of the
aortic arch syndrome (pulseless disease; Takayasu's disease) (Translated from
French)". Annales d'oculistique200 (11): 116879. PMID 6079381.
7. ^ Jump up to:a b Saruhan-Direskeneli, G; Hughes, T; Aksu, K; Keser, G; Coit, P;
Aydin, SZ; Alibaz-Oner, F; Kamal, S; Inanc, M; Carette, S; Hoffman, GS; Akar,
S; Onen, F; Akkoc, N; Khalidi, NA; Koening, C; Karadag, O; Kiraz, S; Langford,
CA; McAlear, CA; Ozbalkan, Z; Ates, A; Karaaslan, Y; Maksimowicz-McKinnon,
K; Monach, PA; Ozer, HT; Seyahi, E; Fresko, I; Cefle, A; Seo, P; Warrington, KJ;
Ozturk, MA; Ytterberg, SR; Cobankara, V; Onat, AM; Guthridge, JM; James, JA;
Tunc, E; Duzgun, N; Bcakcgil, M; Yentr, SP; Merkel, PA; Direskeneli, H;
Sawalha, AH (Jul 2, 2013)."Identification of Multiple Genetic Susceptibility Loci
in Takayasu Arteritis". American journal of human genetics93 (2): 298
305. doi:10.1016/j.ajhg.2013.05.026.PMC 3738826. PMID 23830517.
8. Jump up^ synd/2722 at Who Named It?
9. Jump up^ M. Takayasu. A case with peculiar changes of the central retinal
vessels. Acta Societatis ophthalmologicae Japonicae, Tokyo 1908, 12: 554.