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Multicenter Study
. 2017 Oct;176(10):1385-1391.
doi: 10.1007/s00431-017-2992-y. Epub 2017 Sep 4.

Fabry disease in children: a federal screening programme in Russia

Leyla Seymurovna Namazova-Baranova  1 , Alexander Alexandrovich Baranov  2 , Aleksander Alekseevich Pushkov  3 , Kirill Victorovich Savostyanov  3
Affiliations
Multicenter Study

Fabry disease in children: a federal screening programme in Russia

Leyla Seymurovna Namazova-Baranova et al. Eur J Pediatr. 2017 Oct.

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.

Keywords: Acroparesthesia; Alpha-galactosidase A; Children; Fabry disease; Limb pain; Screening.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Recurrent limb pain/acroparesthesia by location. a Unilateral. b Bilateral
Fig. 2
Fig. 2
Recurrent unilateral and bilateral limb pain/acroparesthesia by age group
See this image and copyright information in PMC

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