Childhood-Onset Takayasu Arteritis Too Often Overlooked

Takayasu arteritis (TA) is a rare, chronic, inflammatory large-vessel vasculitis of unknown cause. It most commonly affects women of childbearing age but can also present in children. The youngest reported patient was 6 months old when first presenting with the condition.¹ 

TA is particularly difficult to diagnose in children because symptoms are nonspecific and mimic more common conditions. In addition, no biomarker testing is available to facilitate the diagnosis, despite genetic associations having been found, and children are not always able to communicate their symptoms. Finally, the pattern of TA involvement varies among patients, which can be another confounding factor.

When diagnosis is delayed, children are at risk for the development of advanced vascular sequelae, increasing their risk for morbidity and mortality significantly. In contrast, when TA is recognized and treated promptly, there is a high likelihood of remission and good outcomes.

Rheumatology Advisor had the opportunity to discuss childhood-onset TA (c-TA) with Debashish Danda, MD, Professor & Head, Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, India. Dr. Danda and colleagues recently published an update on c-TA and described their experience with a cohort of 40 children with c-TA, one of the largest cohorts observed to date.²

How common is c-TA?

The true incidence is not known, but it has been estimated to affect between 1 and 2.6 per million persons annually. It appears to be more common in children of Asian descent, including Asian Indian populations.

What symptoms might be indicative of c-TA?

Symptoms can vary tremendously. In our cohort, we found that hypertension was the most common symptom. Patients might also have headaches, fever, constitutional symptoms, breathlessness, weight loss, and vomiting. Patients with more advanced c-TA might have more pronounced symptoms and present with organ-specific sequelae, such as congestive heart failure and ischemic stroke. Another common sign of c-TA is the absence of extremity pulses. In our cohort, 62.5% of patients had this manifestation.

How can the diagnosis of c-TA be improved?

It is important to consider c-TA in any child who presents with hypertension, absence/asymmetry of pulse and/or blood pressure recordings between limbs, prolonged fever, unexplained weight loss, and/or unexplained vomiting. In such cases, prompt angiography, which remains the gold standard in diagnosis, should be undertaken.

 Magnetic resonance angiography and high-resolution ultrasonography are being used increasingly and can be considered in place of conventional angiography when a less invasive method and less radiation exposure are desired, as is ideal for children.

What treatments are available for c-TA?

Corticosteroids are the mainstay of treatment and have been shown to be effective as monotherapy in early disease, and when combining corticosteroids with steroid-sparing immunosuppressants like mycophenolate mofetil and azathioprine results in less long-term relapse with steroid tapering. In rapidly progressive, active disease, tocilizumab is a good stopgap steroid-sparing step. 

This is especially important before initiating vascular interventions like stenting for fibrotic stenosis because such procedures can induce rapid progression of disease and stent closure if disease is not well controlled. 

Patients with aggressively progressive fibrosing disease should undergo percutaneous transluminal coronary angioplasty with stenting. When conventional treatments fail, prompt treatment with a biologic like tocilizumab can help prevent end-organ damage.

Anything else you want to note about your cohort of 40 children with TA?

Those patients who received mycophenolate and tocilizumab seem to be doing well.

References

1. Eke F, Balfe JW, Hardy BE. Three patients with arteritis. Arch Dis Child. 1984;59(9):877-883.

2. Mathew AJ, Goel R, Kumar S, Danda D. Childhood-onset Takayasu arteritis: an update. Int J Rheum Dis. 2016;19(2):116-126.