Erysipelas in patients with classic Fabry disease

Background: Fabry disease is a rare, X-linked, lysosomal disorder caused by pathogenic variants in GLA and consequent deficient activity of alpha-galactosidase A, resulting in glycosphingolipid storage. Although many systemic manifestations of the disease have been documented, the association between Fabry disease and erysipelas has not previously been reported. Objective: To describe a case series of thirteen patients with Fabry disease and erysipelas and identify potential predisposing factors in this population. Patients and Methods: We retrospectively studied a cohort of 223 French patients with a confirmed molecular and enzymatic diagnosis of Fabry disease. Results: Twelve of the 223 patients with Fabry disease had experienced one or more episodes of erysipelas for a total of 70. All 12 patients had classic Fabry disease. There were ten males and two females, one of whom had highly skewed X chromosome inactivation silencing the wild type GLA allele. Lymphedema of the lower legs (10/11), male gender (10/12), and clinically advanced classic Fabry disease (11/12) were the characteristics identified in patients who experienced erysipelas. No patient with the later-onset form of Fabry disease had any episode of erysipelas. Conclusion: Our findings suggest that clinicians should be aware of the risk of erysipelas in patients with Fabry disease and promptly prevent or treat any skin wound or infection in those with lower limbs lymphedema.