AA amyloidosis associated with Fabry disease

Background Fabry disease (FD) is the second most common lysosomal storage disorder, carrying a large morbidity and mortality. It has been recently reported that lysosomal storage disorders could cause inflammation and, subsequently, AA amyloidosis (AAA). Our aim was to describe AAA cases occurring in the course of FD. Patients and Methods We described two patients displaying both AAA and FD and an additional case from the literature. Results Three female patients originating from Europe (n = 2) and Algeria (n = 1) harboured heterozygousGLAmutations. The median age at AAA diagnosis was 61 years old. The diagnosis of Fabry was made before the diagnosis of AAA (n = 1) or concomitantly (n = 2). At AAA diagnosis, two patients displayed a nephrotic syndrome; all had inflammation. Conclusion Fabry disease can be associated with AAA, suggesting that an inflammatory component could exist in this genetic disease.