Case report of a patient with iliac occlusive disease due to pseudoxantoma elasticum and review of the bibliography

Abstract

Background: Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, the retina, and the cardiovascular system, and is also termed as elastorrhexia. The purpose of this case presentation is to report the case of a PXE patient with an atypical localization of atherosclerotic lesion (iliac arteries) and that this rare disease should always be included in the differential diagnosis of patients with premature atheromatosis.

Methods and results: A 58-year-old patient, suffering from PXE, came to our clinic to seek advice for his severe lower limb claudication. The image of the magnetic resonance angiography of his aorta, iliac arteries, and lower limb arteries demonstrated total occlusion of the left common iliac artery and preocclusive stenosis of the orifice on the right common iliac artery. The patient was treated successfully by angioplasty with kissing stent placement at the iliac arteries, and 6 months later, he is symptom-free, with ankle-brachial indexes of 1.0 and 1.05 on the left and right legs, respectively.

Conclusion: This case report presentation has a primary goal to show that the disease may cause atypical localizations of atherosclerosis (iliac arteries) and a secondary goal to demonstrate that endovascular treatment in these patients may be a safe and viable option. It is also a good opportunity for a brief review of the bibliography.