Abstract
Our objective was to examine the prevalence of Fabry disease in Russian children with chronic pain in the distal limbs. This non-interventional, multi-centre study included children 2–18 years of age with chronic recurrent unilateral or bilateral pain, burning, or acroparesthesia in the hands or feet. The presence of Fabry disease was defined by abnormal alpha-galactosidase A activity in males or alpha-galactosidase gene (GLA) mutation in females. Among 214 patients (110 males), 84.1% had bilateral limb pain and 31.8% had unilateral limb pain recorded at some time point; 61 (28.5%) patients had a positive family history possibly associated with Fabry disease. Alpha-galactosidase A activity was within the normal range in all 109 of the male patients tested. One female patient had a GLA mutation (C937G > T) and alpha-galactosidase A activity within the normal range.Conclusion: We did not find definitive evidence of Fabry disease in these children with a history of chronic recurrent unilateral or bilateral limb pain or acroparesthesia. The presence of chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that key early signs and symptoms of Fabry disease are not specific to the disease.What is Known:• Signs and symptoms of Fabry disease are seen in children < 10 years of age; pain in the distal limbs is a common early symptom.What is New:• Fabry disease was not diagnosed in this population of Russian children with a history of chronic limb pain.• The presence of acroparesthesia or chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that these early symptoms of Fabry disease are not specific to the disease.
Highlights
Fabry disease (OMIM 301500) is an X-linked lysosomal storage disease associated with a functional deficiency of the lysosomal enzyme alpha-galactosidase A that results in substantial morbidity and premature mortality [16, 17, 26, 28]
The presence of chronic limb pain does not appear to be highly predictive of a diagnosis of Fabry disease in Russian children and adolescents, suggesting that key early signs and symptoms of Fabry disease are not specific to the disease
Signs and symptoms of Fabry disease are seen in children < 10 years of age; pain in the distal limbs is a common early symptom
Summary
Fabry disease (OMIM 301500) is an X-linked lysosomal storage disease associated with a functional deficiency of the lysosomal enzyme alpha-galactosidase A that results in substantial morbidity and premature mortality [16, 17, 26, 28]. Eur J Pediatr (2017) 176:1385–1391 and symptoms of Fabry disease can occur in children of both sexes under 10 years of age [26–28]. Classic Fabry disease is seen in hemizygous males with minimal functional alpha-galactosidase A activity. Affected males display the classic phenotype, with the development of characteristic signs and symptoms, including angiokeratomas, acroparesthesia, and hypohydrosis, beginning in childhood and followed by progressive renal, cardiac, and cerebrovascular disease as globotriaosylceramide accumulates in lysosomes throughout the body [4]. Other forms of Fabry disease include asymptomatic to severe disease in heterozygous females and later-onset phenotypes associated with renal, cardiac, and cerebrovascular complications in males with various non-classic mutations [4]
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