Abstract：
:Although Fabry disease (FD) is an X-linked lysosomal storage disorder, there is a high prevalence of affected heterozygous females who show symptoms and have an increased mortality associated with the disease. FD usually progresses slowly, and death can result from stroke, heart disease or renal failure. Diagnosis can be delayed in female patients who often present with more subtle features. The classic cutaneous phenotype of 'angiokeratoma corporis diffusum' is less common in female patients. We report the case of a woman with a family history of FD, who showed some of the less well-recognized features of FD, including the typical 'pseudo-acromegalic' facial appearance. She had a deletion at exon 1 of the α-galactosidase (GLA) gene, confirming the diagnosis of FD. As is the case in 30% of women with FD, her plasma and leucocyte α-galactosidase levels were at the lower end of the normal range. At presentation, she already had symptoms and signs of end-organ damage.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Hogarth V,Hughes D,Orteu CHdoi
10.1111/j.1365-2230.2012.04420.xsubject
Has Abstractpub_date
2013-03-01 00:00:00pages
137-9issue
2eissn
0307-6938issn
1365-2230journal_volume
38pub_type
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