Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

ABSTRACT:

Introduction

Individuals with neuropathic pain, angiokeratoma (AK) and/or cornea verticillata (CV) may be tested for Fabry disease (FD). Classical FD is characterised by a specific pattern of these features. When a patient presents with a non-specific pattern, the pathogenicity of a variant in the α-galactosidase A (GLA) gene may be unclear. This uncertainty often leads to considerable distress and inappropriate counselling and treatment. We developed a clinical approach for these individuals with an uncertain diagnosis of FD.

Materials and methods

A document was presented to an FD expert panel with background information based on clinical experience and the literature, followed by an online survey and a written recommendation.

Results

The 13 experts agreed that the r

SUBMITTER: van der Tol L 

PROVIDER: S-EPMC4241201 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature