Abstract
We describe a 55 year old male diagnosed with cardiomyopathy due to Fabry disease. Biochemical testing of blood spot and plasma showed low-normal alpha-galactosidase A (α-Gal A) levels. Genetic testing revealed somatic mosaicism for GLA c.901C>T, p.(Arg301Ter). Usually, males with Fabry disease due to loss of function variants in GLA show symptoms of the multisystemic features of the condition early in life, and have very low levels of the α-Gal A enzyme. This demonstrates that the diagnosis of Fabry disease in males with cardiomyopathy should still be considered even in the context of a normal plasma enzyme assay.
Highlights
Fabry disease is a rare X-linked lysosomal storage disorder (MIM 301500)
We describe the diagnosis of Fabry disease due to a somatic pathogenic variant in GLA in a man with low, but normal levels of alpha-galactosidase
The diagnosis in the affected individual is vital, both in terms of effective treatment and determining the level of risk to his close relatives. He commenced enzyme replacement therapy (ERT) following the genetic diagnosis which would not have been available to him based on his enzyme assay results, with improvement to his cardiac function 18 months since commencing therapy
Summary
Fabry disease is a rare X-linked lysosomal storage disorder (MIM 301500). It is an inborn error of glycosphingolipid metabolism, resulting from a deficiency or total absence of the alpha-galactosidase A (α-Gal A) enzyme [1]. Image (b), short axis view acquired in the late phase followsignificant left administration ventricular hypertrophy. The demonstrates non-ischaemic enhancement and fibrosis the basal lateral and steady-state free procession imaging sequence in end-diastole demonstrating significant left venbasal inferolateral wall segments.
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