Background/Purpose: Childhood-onset Takayasu arteritis is a rare inflammatory vessel disease that predominantly affects the aorta and its major branches. Clinical presentation at disease onset can be highly variable and often times nonspecific in nature. This can present considerable diagnostic challenges for clinicians, contributing to delays in diagnosis and treatment. In the absence of overt clinical symptoms and lack of reliable biomarkers, the diagnosis relies heavily on advanced imaging techniques to guide diagnosis and inform treatment decisions. Though a rare entity,  we have diagnosed five pediatric patients with new onset  Takayasu arteritis at our institution over the span of nine months.

Methods: A retrospective review was performed of five pediatric patients diagnosed with Takayasu arteritis followed in our Pediatric Rheumatology clinic at Stanford Children’s Health from May 2019 to January 2020. Demographic, clinical, treatment and radiographic data at disease onset were collected and summarized using descriptive methods.

Results: We identified five patients (3F:2M) who met EULAR/PRINTO/PRES criteria for children-onset Takayasu arteritis. Median age at diagnosis was 15 years (range 12-16) and mean time to diagnosis was 99.4 days (range 45-203). Most patients presented with systemic constitutional symptoms at onset (i.e. fever of unknown origin, weight loss, fatigue). Chest, back and upper-limb pain was a common complaint shared by more than half of patients. Mucocutaneous manifestations, serositis, enthesitis and polyarthritis were identified in several patients at time of presentation. One patient presented in renal failure due to severe renal artery stenosis. Vital sign abnormalities were also common, with three patients presenting with elevated blood pressures requiring medical management. F-18 flurodeoxyglucose (FDG) positron-emission tomography in conjunction with magnetic resonance imaging (MRI) was used to establish diagnosis in all patients. All patients had a diffuse pattern of vessel involvement or type V accordingly to the angiographic classification of the International Takayasu Arteritis Conference in Tokyo (1994). Four patients had evidence of morphological vessel changes including wall thickening, luminal narrowing, stenosis, fusiform aneurysm and dilation. Though rare, pulmonary artery, temporal artery, intracranial or abdominal visceral involvement was appreciated in four out of five patients. All patients received systemic glucocorticoids, methotrexate, and infliximab for induction. One patient had a severe and refractory course, requiring treatment with tocilizumab and eventually cyclophosphamide.

Conclusion: Clinicians must maintain a high index of suspicion for Takayasu arteritis when confronted with nonspecific elevation of inflammatory markers in the setting of obscure clinical findings. If clinically suspected, dedicated vessel imaging may aid in the early identification disease, enabling clinicians to institute timely treatment to prevent irreversible damage to vessels and the major organs they supply.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/childhood-onset-takayasu-arteritis-a-single-center-case-series-of-atypical-and-varied-presentations/