Anderson-Fabry disease: No histological signs of pathological accumulation in arterial and venous endothelium during pegunigalsidase alfa therapy

Abstrakt

A 43-year-old male patient with Anderson-Fabry disease (AFD) diagnosed in adulthood during a family screening (mutation c.734DEL61) was qualified for surgical removal (phlebectomy) of varicosities. This enzymatic defect results in pathological accumulation of glycolipids in lysosomes of the vascular endothelium and several cell types.