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Takayasu's arteritis ( TA), also known as Takayasu's disease, aortic arch syndrome, nonspecific aortoarteritis, and pulseless disease, (2025). 9780323547536, Elsevier. ISBN 9780323547536 is a rare, chronic form of large-vessel granulomatous vasculitisAmerican College of Physicians (ACP). Medical Knowledge Self-Assessment Program (MKSAP-15): Rheumatology. "Systemic Vasculitis." Pg. 65–67. 2009, ACP. that causes inflammation in the walls of major arteries. The disease affects the aorta (the main blood vessel leaving the heart) and its branches, as well as the pulmonary arteries.
Inflammation can lead to narrowing (stenosis), occlusion (complete blocking), or weakening and dilution (aneurysm) of affected arteries, restricting blood flow and leading to symptoms such as limb claudication, hypertension, and neurologic or visual disturbances.
Takayasu's arteritis most commonly affects young or middle-aged women, particularly those of descent, though it can occur in any population. Females are approximately 8–9 times more likely to be affected than males. Because of the involvement of the aortic arch branches, physical examination may reveal absent or weakened pulse in the arms, hence the term "pulseless disease."
In the Western world, atherosclerosis is a more common cause of large vessel obstruction particularly in older individuals, whereas Takayasu's arteritis is more frequently seen in younger patients and may resemble other vasculitides such as giant cell arteritis.
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 involvement in form of visual field defects, vision loss, or retinal hemorrhage. 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 . As with all aneurysms, the possibility of rupture and vascular bleeding is existent and requires monitoring. In view of the chronic process and good collateral development, Raynaud's phenomenon or digital gangrene are very rare in Takayasu arteritis.
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.
Chronic inflammation often results in irregular fibrosis of the vessel wall, particularly affecting the innermost layer, which may become significantly thickened.John Barone, M.D. USMLE Step 1 Lecture Notes. "Vascular Pathology." 2008, Kaplan Inc. pg 101. These changes -- including narrowing due to inflammation, granuloma, and fibrosis -- are commonly observed through imaging techniques such as magnetic resonance angiography (MRA), computed tomography angiography (CTA), or arterial angiography (DSA).
T lymphocytes, particularly CD4+ and CD8+ T cells, are thought to play a key role in the disease process. These cells may contribute to the formation of granulomas and trigger the release of tissue-degrading enzymes such as matrix metallproteinases (MMPs), which further damage the vessel wall. Inflammation can also lead to the loss of elastic fibers and smooth muscle cells, weakening the arterial wall and increasing the risk of aneurysm formation.
While the precise cause remains unknown, genetic predisposition may contribute to disease risk. Associations with certain human leukocyte antigen (HLA) types, such as HLA-B*52, have been reported, though the full genetic contribution is still being studied.
Another gene associated with this condition is MLX (Max-like protein X)Tamura N, Maejima Y, Matsumura T, Vega RB, Amiya E, Ito Y, Shiheido-Watanabe Y, Ashikaga T, Komuro I, Kelly DP, Hirao K, Isobe M (2018) Single-nucleotide polymorphism of the MLX gene is associated With Takayasu arteritis. Circ Genom Precis Med 11(10):e002296. doi: 10.1161/CIRCGEN.118.002296.
These possible complications highlight why early diagnosis, regular monitoring, and aggressive treatment are essential in managing Takayasu's arteritis.
Ultrasound can reveal arterial wall thickening -- referred to as the "macaroni sign" -- which is highly suggestive of the disease. FDG PET is particularly useful not only in identifying active inflammation in untreated individuals but also in detecting disease relapse in patients undergoing immunosuppressive therapy.
Contrast angiography remains the gold standard for visualizing vessel abnormalities. The earliest signs include localized narrowing or irregularity of the arterial lumen, which may progress to stenosis and occlusion. A characteristic finding is the presence of "skip lesions," where areas of narrowing or aneurysm alternate with segments of normal vessels. While angiography offers excellent anatomical detail and insight into vascular patency, it does not provide information about the degree of arterial wall inflammation.
The age of onset helps differentiate Takayasu's arteritis from other forms of large-vessel vasculitis. Takayasu's typically presents before age 40, while giant cell arteritis generally affects individuals over 60.
Laboratory tests are often used to rule out other autoimmune diseases. Takayasu's arteritis is not associated with anti-neutrophil cytoplasmic antibodies (ANCA), rheumatoid factor (RF), antinuclear antibodies (ANA), or anticardiolipin antibodies.
There is no single definitive test for Takayasu's arteritis. Diagnosis is typically made through a combination of clinical assessment -- including symptoms, physical examinations, and medical history -- along with laboratory and imaging studies. Biopsy, often used in other types of vasculitis to confirm diagnosis, is generally not feasible in Takayasu's because it affects large vessels like the aorta, which are inaccessible unless vascular surgery is already being performed.
Blood test may support the diagnosis by indicating inflammation. Elevated erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels are common but not specific; these markers may be normal in up to 50% of patients. Additional tests may evaluate for anemia or help rule out other conditions.
Although conventional angiography is rarely required today, it may be performed in selected cases to obtain high-resolution images. This involves inserting a catheter into a major artery or vein, injecting contrast dye, and taking X-rays to assess blood flow. Patients with Takayasu's typically exhibit multiple areas of stenosis.
Ultrasound, particularly Doppler ultrasound, offers high-resolution images of superficial arteries, such as those in the neck and shoulder. It may detect early arterial wall changes before other imaging modalities can.
Positron emission tomography (PET) scans, sometimes combined with CT or MRI, are useful for detecting vascular inflammation. A radiotracer is administered prior to the scan to highlight areas of reduced blood flow or increased metabolic activity, providing functional insight into disease activity.
The disease may remain active even in the absence of symptoms, and irreversible vascular damage may already be present at the time of diagnosis. In cases where there are no symptoms or complications, treatment may not be necessary, or therapy may be tapered under medical supervision.
If corticosteroids are insufficient or poorly tolerated, additional immunosuppressive agents may be used. These include:
These agents suppress immune activity and may help maintain disease remission. However, they carry an increased risk of infection.
For patients who do not respond to standard immunosuppressants, biological therapies targeting specific immune pathways may be considered. These include:
Biologics are typically used off-label and require further study. Their most common side effect is increased infection risk.
Surgical options include:
While surgery can alleviate symptoms such as hypertension and chest pain, restenosis may occur, necessitating repeat procedures.
Following Takayasu's presentation, Dr. Yoshiakira Onishi of Kyushu University described a similar case involving absent radial pulses. These findings linked ocular vascular changes with large-vessel pathology, a key feature of the disease. Although Dr. Takayasu is widely credited with the first description of the condition, earlier reports may represent cases of what is now known as Takayasu arteritis. These include descriptions by Giovanni Battista Morgagni in the 18th century and Rokushu Yamamoto in 1830, who noted progressive arterial occlusion in a patient over 11 years. In 1856, Savory reported a young woman with upper-extremity pulselessness and vision loss, though subsequent analysis suggested her symptoms may have resulted from another condition.
In 1921, Dr. Minoru Nakajima proposed the term Takayasu disease after reviewing prior case reports and identifying four characteristic features: (i) bilateral ocular involvement in young women; (ii) arteriovenous anastomosis and retinal microaneurysms; (iii) vision impairment with cataracts; (iv) impalpable radial pulses. This led to increased clinical awareness and recognition of similar cases in Japan.
Over the following decades, various alternate names were suggested. In 1946, Frovig introduced the term aortic arch syndrome. In 1948, Drs. Kentaro Shimizu and Keiji Sano proposed the term pulseless disease, and in 1951, they published the first report of the disease outside of Japan, summarizing 25 cases. The first Western (occidental) case was published by Caccamise and Whitman in 1952, and the term Takayasu arteritis entered international medical literature in 1962, through a report by Judge et al.
In Japan, different acronyms and terminologies were also produced. Drs. Maekawa and Kakei called it occlusive coagulant aortic syndrome, and Dr. Nasu referred to it as obstructive productive arteritis. In 1965, Riehl et al. analyzed the disease pathologically and immunologically, proposing that it be classified as an autoimmune disorder. The American College of Rheumatology (ACR) included Takayasu arteritis in its 1990 classification criteria, leading to widespread global recognition of the disease under that name.
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