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KMID : 0918520170170030092
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Journal of the Korean Society of Inherited Metabolic Disease
2017 Volume.17 No. 3 p.92 ~ p.95
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Improved Acroparesthesia During Enzyme Replacement Therapy in a Patient Lately Diagnosed with Fabry Disease
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Yang A-Ram
Kim Jin-Sup
Cho Sung-Yoon
Jin Dong-Kyu
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Abstract
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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by an α-galactosidase A (GLA, MIM 300644) enzyme deficiency due to pathogenic variants in the α-galactosidase A gene (GLA). The disease leads to accumulation of globotriaosylceramide (Gb3) and related glycophospholipids affecting nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems present with various clinical manifestations including acroparesthesia, renal failure and heart failure. Here, we report a Chinese male diagnosed with Fabry disease in his late 4th decades showing improvement of acroparesthesia during enzyme eplacement therapy (ERT). A 48-year-old Chinese man who presented with chronic recurrent severe burning pain in his fingers and toes since the age of 10, with worse involvement of the former visited to our clinic for further evaluation. His medical history included a transient ischemic attack aged 40 and diagnosed with stage 4-5 chronic kidney disease aged 47. In the family history, the patient’s brother was found to be have Fabry disease 1 month before his visit. Except for his brother, all other members of the family are healthy. Based on his medical history and family history, he was strongly suspicious for Fabry disease. He was found to have a galactose-alpha-1,3-galactose level 4.96 (Reference range, 42.5-67.9) suggestive of Fabry disease. The followed sequencing of GLA coding region in our patient revealed hemizyosity for the mutation c.988C>T (Q330X) in Exon 7. Since ERT start, he showed significant improvement in his symptoms of burning sensation of fingers and toes. On the contrary, due to deteriorating kidney function even with ERT, he is considered for kidney transplantation. Despite of diagnostic delay until late 4th decades, ERT showed a potential improvement of croparesthesia in our patient. However, late start of ERT can lead to poor outcome in multiorgan function. Therefore, early diagnosis with high index of suspicion followed by continuous ERT with regular monitoring have an impact on quality of life in Fabry disease.
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KEYWORD
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Fabry disease, Acroparesthesia, Alpha galactosidase
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