Commentary: Pseudoxanthoma elasticum: An orphan disease with important implications for cardiothoracic surgeons

Abstract

Anderson and colleagues present an interesting case report on the successful treatment of a patient with pseudoxanthoma elasticum (PXE) who underwent minimally invasive aortic valve replacement for severe aortic stenosis. PXE, also called Gr€onblad-Strandberg syndrome, is an orphan disease and is characterized by ectopic mineralization and fragmented elastic fibers of the connective tissue of the skin, retina, and vascular walls. PXE is in most cases initially diagnosed during childhood or adolescence with its characteristic skin lesions; that is, small yellow papules on the nape and the sides of the neck and the flexural areas. Vascular sins of PXE usually become apparent years after the onset of skin and ocular lesions. In patients with PXE, the arterial media and intima are influenced by the dystrophic calcium/phosphate mineralization. The leading clinical manifestation of the arterial wall mineralization is intermittent claudication in upper and lower extremities, but any arterial vessel can be influenced by the characteristic changes. Cardiothoracic surgeons are used to dealing with patients who have extensive calcifications of the aorta and the aortic valve. What makes patients with PXE so special for treating physicians is the fact that special considerations need to be taken into account regarding postoperative anticoagulation strategies (Figure 1). As the authors correctly describe in their case report, anticoagulation with vitamin K antagonists should be avoided because