Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

Abstract

Objective: Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal-dominant syndrome characterized by arterial aneurysms, tortuosity, and aortic dissections in combination with osteoarthritis. Our objective was to evaluate the AOS-related vascular consequences in the visceral and iliac arteries and raise awareness for this aggressive syndrome among vascular specialists.

Methods: All AOS patients were monitored regularly according to our clinical AOS protocol. The study included those with one or more visceral aneurysms or tortuosity, or both. Clinical and surgical data were obtained from record abstraction.

Results: The study included 17 AOS patients (47% men) aged 47±13 years. A total of 73 aneurysms were encountered, of which 46 were located in the abdomen. The common iliac artery was most commonly affected (37%), followed by the superior mesenteric artery (15%), celiac trunk (11%), and splenic artery (9%). Rapid aneurysm growth≤1 year was found in three arteries (gastric, hepatic, and vertebral artery). Furthermore, arterial tortuosity was noted in 94% of patients. Four patients underwent six elective (endo) vascular interventions for aneurysms in the iliac, hepatic, gastric, or splenic artery, without major perioperative or postoperative complications.

Conclusions: AOS predisposes patients to widespread visceral and iliac artery aneurysms and extreme arterial tortuosity. Early elective aneurysm repair should be considered because the risk of aneurysm rupture is estimated to be very high and elective (endo) vascular interventions were not complicated by fragility of arterial tissue. Given the aggressive behavior of AOS, it is of utmost importance that vascular specialists are aware of this new syndrome.