THE PREVALENCE OF FABRY DISEASE IN MALES WITH RENAL SYMPTOMS OF UNKOWN CAUSE, VISITING THE OUTPATIENT CLINIC OF A LARGE TEACHING HOSPITAL

Fabry disease is an X-linked disorder caused by the deficiency of the lysosomal
enzyme alpha Galactosidase A (*-Gal a), resulting in accumulation of specific
glycosphingolipids in (vascular) endothelial cells. In childhood males suffer
from severe pains in hands and feet (acroparesthesias), hypo- or anhydrosis and
develop angiokeratoma at trunk and genitals. Later in life, they develop
vascular complications due to the ongoing endothelial glycolipid accumulation,
of which renal insufficiency often progressing to end stage renal failure
requiring dialysis is a main feature 1. The clinical picture of the disorder is
highly variable. In female carriers the clinical picture is even more
heterogeneous, albeit with a more protracted course. It is possible that due to
its variability in clinical expression, the above mentioned symptoms are not
always recognised as Fabry disease, resulting in underdiagnosis and
consequently underestimation of its prevalence. The prevalence of Fabry disease
in large dialysis registry programs, was shown to be 0,019% and 0,017%, in
Europe and the US, respectively 2 3. Reports on the prevalence of Fabry disease
in such registries depend on a correct diagnosis. In contrast, Utsumi et al.
diagnosed Fabry disease in 2 of 440 males (0,45%) with renal failure in Japan
4. In the Netherlands, screening of 508 male dialysis patients revealed only
one Fabry disease patient, who was already known with Fabry disease 5.

To date, screening of patients with moderate renal function disorders,
micro-albuminuria or proteinuria has not been performed.

To determine the prevalence of α-Galactosidase A deficiency in male patients
presenting with renal failure, proteinuria or micro-albuminuria of unknown
cause, at the outpatient clinic of the department of internal medicine of a
large teaching hospital.

Observational, prospective.

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