Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa

Abstract

Fabry disease is a rare X-linked disorder that leads to widespread and progressive disease manifestations, with patients at risk of premature mortality as a result of renal, cardiovascular or cerebrovascular complications. In recent years there has been a growing awareness that the first signs and symptoms of Fabry disease may begin during childhood. Studies show that clinical manifestations such as pain, hypohidrosis, gastrointestinal disturbances, angiokeratomas, cornea verticillata and acroparaesthesiae may be common in childhood and that such manifestations may become apparent during the first few years of life. Despite the early onset of these signs and symptoms, however, diagnosis is often delayed. Interest is now focused on whether enzyme replacement therapy can slow or prevent the onset of these disease manifestations. Preliminary data from two studies suggest that treatment with agalsidase alfa is well tolerated in children and that it may have beneficial clinical effects; however, further research is needed to determine whether enzyme replacement therapy can prevent the development of disease manifestations. The manifestations of Fabry disease first become apparent during childhood. It is well known that disease-associated manifestations are progressive; however, it has yet to be determined whether specific treatment with enzyme replacement therapy can prevent the development of the associated severe and life-threatening complications.