Takayasu arteritis is a rare disorder characterized by the progressive inflammation of one or more of the larger arteries leading from the heart. The main artery of the heart (aorta) and the pulmonary (lung) artery, among others, may be affected. When this disorder causes progressive inflammation of many arteries, it is known as polyarteritis. One of the consequences of polyarteritis is the reduction of blood flow to any of several organs and/or arms and legs. Arteries in the head and arms may be affected, and this can result in the loss of the major pulse points in the body. Some people with Takayasu arteritis have irregular narrowing of portions of the large arteries (segmental stenosis) and abnormal backward flow of blood from the aorta into the left ventricle of the heart (aortic regurgitation). Other patients may have symptoms of ballooning and weakening (aneurysm) of the wall of a major vessel.
About half of the patients with Takayasu arteritis display a general feeling of weakness (malaise). In addition, patients may complain of muscle aches (myalgias), and joint pain (arthralgias). Progressive obstructive arterial disease and narrowing of the arteries (stenosis) may follow the initial phase of the disease. When the aorta and the major arteries in the neck (carotid arteries) are affected by Takayasu arteritis, the patient usually experiences lightheadedness, dizziness, and brief moments of unconsciousness (syncope). These symptoms are the result of a decrease in blood supply to the brain (cerebral ischemia). The pulses that are normally found in the neck and on the temples (carotid and superficial temporal pulses) may be absent. Most often, progression of the arteritis is slow so that there is sufficient time to develop adequate alternate circulation (collateral or secondary circulation).
People with Takayasu arteritis may develop impairment of heart and brain function due to the insufficient flow of blood to these organs. In some cases an artery may rupture due to weakness of the vessels’ wall (aneurysm), and/or difficulty speaking (aphasia) may occur. Other symptoms may include episodes of blindness, dim vision, and an abnormal sensitivity to light (photophobia). Involvement of the arteries in the neck (brachial involvement) may cause weakness in the arms and weakness and cramps in the legs (claudication), cool skin, and the absence of pulses in the wrists (radial). Blood pressure may be very difficult to measure.
Intermittent attacks of decreased blood flow to the hands and feet (Raynaud’s phenomenon) typically occur in people with Takayasu arteritis. Additional symptoms may include heart murmurs (systolic) and inflammation of the blood vessels that result in nodules under the skin that are red and tender (erythema nodosum). Sometimes people with Takayasu arteritis experience cloudiness of the lens of the eyes (cataracts) at an early age, and there may be progressive weakness in the muscles and soft tissues of the face.
The exact cause of Takayasu arteritis is not known. Certain laboratory findings, such as elevated levels of globulins and the presence in serum of unusual antibodies, suggest a defect in the immune system and a possible autoimmune association. Autoimmune disorders are caused when the body’s natural defenses (e.g., antibodies) against “foreign” or invading organisms begin to attack healthy tissue for unknown reasons.
It is thought that takayasu arteritis may also run in families and occurs with greater frequency in certain races. Studies have shown increased frequency of takayasu arteritis in Asians who have a particular antigen on chromosome 6 (HLA-Bw52). There appears to be an increase of this disorder in North Americans who carry a particular HLA (HLA-DR4). Infectious agents such as bacteria and viruses do not appear to play a role in the cause of this disorder. It may be that some people are genetically predisposed to this disease. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease.
Other studies have suggested that at least some cases of Takayasu arteritis may be inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.
Takayasu arteritis is a rare disorder that affects more females than males. Approximately 80 to 90 percent of the cases affect females. This disorder is common in Japan, and occurs throughout the Orient. Takayasu arteritis has been reported in India and South America. The symptoms of this disorder typically begin between 15 and 35 years of age although it can affect children as well. It is estimated that between 2 and 3 new cases per million are recorded in the USA population per year.
In addition to a complete medical history and careful physical examination, any of several imaging techniques are used to evaluate the condition of the blood vessels. These include:
X-ray examination to see the location and seriousness of any damage to the arteries; magnetic resonance imaging (MRI) in order to isolate and indicate vessel narrowing or aneurysms; computer axial tomography (CAT) scans to determine what damage, if any, has affected an organ of the body; and angiography, which permits the physician to see the interior of the artery to help determine the type of treatment.
When the diagnosis of Takayasu arteritis is suspected, treatment should begin quickly to avoid serious complications such as the blockage of arteries and/or blindness. Corticosteroid drugs usually control initial local and systemic symptoms. Prednisone and prednisolone, the preferred corticosteroids, work rapidly to reduce symptoms. However some patients are resistant to prednisone and its derivatives. The dosage of the corticosteroids is reduced over time but treatment may last for 2 years or longer to prevent recurrence. Takayasu arteritis must be carefully monitored through blood tests (sedimentation rate).
Reconstructive vascular surgery, including cardiac by-pass surgery, may be helpful in selected patients with Takayasu arteritis. The surgery may provide new pathways for the arterial circulation, bypassing those vessels that have narrowed. The blood thinning drug, heparin, may be given to those patients who experience episodes of decreased blood supply to various parts of the body (ischemia).
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
For information about clinical trials sponsored by private sources, contact:
The Office of Rare Diseases (ORD) of the National Institutes of Health is sponsoring a study that is intended to define new biological markers to assess the severity of disease in people with Takayasu arteritis. About 160 patients will be studied in 4 medical centers (Johns Hopkins, Boston University, Mayo Clinic, Cleveland Clinic). For information, contact the NIH Patient Recruitment Office listed above or go to www.clinicaltrials.gov. The identification number is: NCT00315471.
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