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RESEARCH PRODUCT

207 Diagnosis of Anderson-Fabry Disease in Childhood. What Should We Focus on?

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Background: Anderson-Fabry disease (FD) is an X-linked lysosomal storage disorder which also affects female carriers and has an early onset of symptoms in childhood in both genders. Signs and symptoms are frequently misunderstood and often diagnosis is made approximately 10–20 years after their onset. This has been clearly demonstrated by Fabry outcome survey (FOS) a European database on the natural history of FD and the effects of enzyme replacement therapy with agalsidase alfa (Replagal). Methods: Demographic data on 82 children (40 boys and 42 girls) below 18 years of age, with a median age at FOS entry of 12.9 (0.7–17.9) were analysed Results: Most frequently reported symptoms (60–80%) were neurological and gastrointestinal including altered temperature sensitivity, pain, acroparaesthesiae, dyshydrosis, abdominal pain and altered bowel habits. Over 40% had auditory (tinnitus, vertigo), and dermatological (angiokeratoma) symptoms. Median age at onset of symptoms was 6 years whilst median age at diagnosis was 10 years (figure). Conclusion: Data in FOS show that also the selected group of paediatric patients has a consistent delay of diagnosis. As ERT is licensed for use in FD and could potentially delay or prevent the onset of life-threatening complications of FD seen in adults, early diagnosis is important. Emphasis is therefore to have a heightened awareness of the clinical presentation of childhood FD, especially when they present with an unusual constellation of symptoms including pain, dyshydrosis, abdominal pain and tinnitus.