Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease.

We present a patient diagnosed with Fabry disease at age 11, with rapid progression of new angiokeratomas in typical regions before beginning treatment with ERT. To date, our patient has been treated with ERT for 10 years. During the treatment period, new angiokeratomas have not arisen nor have existing ones enlarged during puberty, adolescence, and early adulthood. Furthermore, partial regression of the angiokeratomas has occurred in association with regression of left ventricular hypertrophy and anhidrosis. Overall, this case suggests that long-term ERT could stop the progression of angiokeratomas and induce their partial regression but does not produce complete resolution. Importantly, regression of angiokeratomas might be a marker of systemic target-organ efficacy of ERT.
PMID: 32566958 [PubMed - in process]

Source: Acta Dermatovenerologica Alpina, Panonica, et Adriatica - June 23, 2020 Category: Dermatology Tags: Acta Dermatovenerol Alp Pannonica Adriat Source Type: research