Concurrent Takayasu Arteritis and Vascular Ehlers–Danlos Syndrome: A Case Report

Abstract

Takayasu arteritis (TAK) is a rare primary systemic inflammatory vasculopathy. It is classified as a large-vessel vasculitis and is known to cause inflammatory aneurysms and vascular stenosis. Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant condition known to cause multiple aneurysms and arterial dissection at a young age owing to a mutation in the gene for type III collagen, COL3A1. Here, we present a case of TAK associated with vEDS with the development of multi-organ infarction of the brain, kidney, and spleen owing to multiple arterial aneurysms and stenosis of the internal carotid artery. The patient was successfully treated using anti-inflammatory agents, glucocorticoids, and tocilizumab with the addition of interventional radiology. In our case, a high inflammatory response led to vasculitis being the main cause of the disease with concurrent vEDS. When patients develop multiple aneurysms, stenosis, and dissections leading to multiple organ infarctions, a systemic differential diagnosis to consider concurrent vasculitis syndrome and non-inflammatory vasculopathy, including hereditary disorders, is important even with time constraints.

Management of Spontaneous Crystalline Lens Luxation in a Patient Diagnosed with Takayasu’s Disease

“…COL5A1 or COL5A2 genes, which normally code for collagen chains α1(V) and α2 (V), are mutated and an abnormal coding results in structurally and functionally defective type V collagen [ 16 ]. Hashimoto et al [ 17 ] reported a case of TA associated with EDS, causing multiple aneurysms and arterial dissection at a young age owing to a mutation in the gene for type III collagen, COL3A1, without any ocular signs or symptoms.…”