Background: Data obtained from screened newborns and from persons at known risk for Fabry disease suggest that this condition is much more common in Germany than previously assumed. Its clinical manifestations are very diverse, and its differential diagnosis is correspondingly broad. Thus, there is often a delay before the diagnosis of Fabry disease is established.
Methods: Selective literature search with special attention to studies of large groups of patients with respect to clinical manifestations, diagnostic evaluation, and treatment.
Results: The number of patients carrying the diagnosis of Fabry disease in Germany lies far below what would be expected from published prevalence figures from other countries. Angiokeratoma, acroparesthesia, hypertrophic cardiomyopathy, impaired sweating and corneal opacification (cornea verticillata) are typical manifestations of Fabry disease; many patients also have other, nonspecific complaints, such as gastrointestinal disturbances. It has been clearly shown that women can manifest the entire range of clinical manifestations. Studies involving large groups of patients have improved our understanding of hearing impairment and tinnitus in Fabry disease. Therapeutic trials are currently in progress to determine whether enzyme substitution can delay the occurrence of life-threatening sequelae such as progressive renal failure and cerebrovascular events.
Conclusions: Fabry disease is still underdiagnosed. The average delay from the onset of symptoms to diagnosis is more than a decade. Treatment with human alpha-galactosidase A produced with genetic technology can improve most of the disease's manifestations.
Keywords: Fabry disease; diagnosis; enzyme substitution; lysosomal storage disease; molecular medicine.