Factors Affecting Fabry Disease Diagnosis in Relatives of an Identified Proband Open Access

Panepinto, Olivia Rose (2016)

Permanent URL: https://etd.library.emory.edu/concern/etds/c821gk227?locale=en
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Abstract

Fabry Disease is an X-linked lysosomal storage disorder resulting from mutations in the α-galactosidase gene (GLA) encoding the α-galactosidase A enzyme. In those affected, glycolipids accumulate in cells causing irreversible tissue damage. Symptoms of Fabry disease described in previous studies include extremity pain, unexplained fever, diminished sweating, decreased exercise tolerance, angiokeratoma, cornea verticillata, neuropathic pain, gastrointestinal issues, proteinuria, cardiac problems, and hearing loss. However, these symptoms are non-specific and occur in non-Fabry related conditions. In order to gain a better understanding of the Fabry disease symptom profile, we investigated the associations between self-reported symptoms and Fabry disease in genetic relatives of an identified Fabry disease proband (N=565). Family members of affected Fabry disease cases completed questionnaires about demographics, disease family history, symptom profile, and attached molecular and/or genetic test results of their affected family member. We examined associations between self-reported symptoms and a positive Fabry disease test. Testing positive for Fabry disease was associated with self-reporting corneal changes/whorls (OR: 6.30, 95% CI: 1.79, 22.1). Males with a first degree relative with Fabry and pain in their hands/feet were at a six fold increased odds of testing positive (OR: 6.37, 95% CI: 2.55, 15.91). Additionally, males experiencing decreased sweating (OR: 5.05, 95% CI: 1.78, 14.32) or angiokeratomas (OR: 6.4, 95% CI 2.3, 17.82) were at an increased odds for testing positive. These findings suggest that patients presenting with corneal changes, pain in hands/feet, decreased sweating or angiokeratomas may be useful in helping clinicians prioritize testing of relatives for Fabry disease.

Table of Contents

Table of Contents Background.........................................................................................................................................................................1 Methods.............................................................................................................................................................................7 Results..............................................................................................................................................................................11 Discussion..........................................................................................................................................................................14 Tables/Figures....................................................................................................................................................................19 Appendix............................................................................................................................................................................24 References.........................................................................................................................................................................26


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