Lymphedema and erysipelas in patients with classic Fabry disease: a retrospective case series

Abstract

Aim: Fabry disease (FD, OMIM #301500) is a rare, X-linked, lysosomal disorder caused by pathogenic variants in GLA; the consequential lack of alpha-galactosidase A activity results in glycosphingolipid accumulation. Although many systemic manifestations of the disease have been documented, the association between FD and erysipelas has not been previously reported.

Methods: We describe 12 patients with Fabry disease and lymphedema of the lower limbs who experienced one or more episodes of erysipelas (with 67 episodes in total).

Results: All 12 patients (ten males and two females) had classic FD. One of the females had highly skewed X chromosome inactivation, silencing the wild-type GLA allele. Lymphedema of the lower legs (in 10 out of 11 patients with data) was notable in the patients who experienced erysipelas.

Conclusion: The characteristics of this case series suggest that clinicians should be aware of the risk of erysipelas in patients with FD-associated lower limb lymphedema and should seek to prevent or promptly treat skin wounds or infections in this setting.

Keywords

Fabry disease / erysipelas / lymphedema / dermatological manifestations

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