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In reply

We appreciate the comments by Ries and Schiffmann regarding our editorial.¹ They are correct in stating that the use of surrogate markers in Fabry disease (FD) may produce some controversy.

In respect to angiokeratomas (AK) as a possible biomarker for disease progression as well as effect of treatment in FD, several aspects have to be taken into consideration. These include the following:

1. Identification of AK may sometimes be difficult, especially among nondermatologists²;
   
2. Angiokeratoma is not an exclusive feature of FD. Angiokeratoma can also be found in fucosidosis, sialidosis, -N-acetylgalactosaminidase deficiency (Kanzaki disease, Schindler disease), adult-onset GM1-gangliosidosis, aspartylglycosaminuria, and -mannosidosis and in the idiopathic type³;
   
3. Angiokeratomas obviously manifest more often in male than female patients⁴;
   
4. Several cases of FD without AK have been reported, especially in the cardiac variant⁵;
   
5. Data in regard to the natural course of AK in FD is limited⁶;
   
6. Data in . . . [Full Text of this Article]

RELATED ARTICLE

Fabry Disease: Angiokeratoma, Biomarker, and the Effect of Enzyme Replacement Therapy on Kidney Function
Markus Ries and Raphael Schiffmann
Arch Dermatol. 2005;141(7):904-905.
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