Takayasu arteritis

Takayasu arteritis is an uncommon inflammatory disease that primarily targets the aorta and other large arteries, causing them to narrow, close, or stretch like weak rubber tubing. Because the blood vessels that supply organs and limbs are involved, the condition can affect multiple body systems and may first be suspected when pulses are weak or blood pressure differs greatly between arms and legs. Although sometimes called “young female arteritis,” people of any sex can be affected, often during adolescence or early adulthood. Precise numbers vary by region, but experts estimate that the condition affects roughly 1 to 9 people in every 100,000. Severity and symptoms vary widely between individuals.

Takayasu arteritis often begins like a stubborn flu, with tiredness, low fever, weight loss, sore muscles, and poor appetite. As the inflamed arteries narrow or stretch, blood pressure can rise sharply, sometimes causing pounding headaches, chest pain, or even a heart attack. Poor flow to the brain may bring dizziness, blurry vision, seizures, and cognitive changes such as trouble concentrating, short lapses in memory, or sudden irritability, which can be unsettling for patients and families. When the renal arteries are involved, kidney function may slip and blood pressure rises further. Aching legs or arms during activity, cool or ulcerated skin, and a weak pulse in one limb are other clues that circulation is being compromised.

Researchers have long suspected an immune-mediated process behind Takayasu arteritis, but the precise genetic basis is still under investigation. Because some families with multiple affected siblings have been reported, the condition is currently classified as autosomal recessive, meaning a person must inherit two altered copies of a causative gene—one from each parent—to be at risk. In practical terms, parents who each carry one silent copy have a 25 percent chance with every pregnancy of having a child who develops the disease. The condition may be more common when parents share a common ancestor, because they are more likely to carry the same rare genetic change. Even within the same family, the severity and specific symptoms can vary considerably, a phenomenon known as variable expressivity. Genetic counseling can help relatives understand carrier testing options, recurrence risks, and family planning choices.

Currently, management focuses on controlling vessel inflammation, preventing complications such as high blood pressure or organ damage, and supporting overall health. Care is typically coordinated by a multidisciplinary team that may include rheumatologists, vascular surgeons, cardiologists, nephrologists, neurologists, and rehabilitation specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Follow-up often involves periodic imaging of the aorta and its branches, blood pressure monitoring in both arms and legs, kidney function tests, and discussions of lifestyle adjustments that reduce cardiovascular strain. Because treatment is tailored to the individual and may change over time, patients should discuss options with their healthcare team to determine which therapies, monitoring schedules, and lifestyle measures are most appropriate. Genetic counseling can further assist families in understanding inheritance and potential implications for relatives.

Outcomes depend on many factors, including how early the diagnosis is made, which arteries are affected, and how consistently inflammation can be controlled. Some people experience long periods of remission with minimal limitations, whereas others face recurrent flare-ups or progressive vessel damage despite therapy. With attentive monitoring, aggressive management of high blood pressure, and timely surgical or endovascular intervention when needed, many individuals can pursue education, work, and family life. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with large-vessel vasculitis and to engage with patient communities that share coping strategies and current information.

Takayasu arteritis is an active research area with numerous ongoing clinical trials exploring novel anti-inflammatory agents, biologic therapies, and improved imaging techniques. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team about eligibility.