OBJECTIVES To determine the natural history of Anderson-Fabry disease (AFD) as a baseline for efficacy assessment of potentially therapeutic drugs. DESIGN The first large cross sectional study of a patient cohort from the AFD clinical and genetic register (UK), maintained for the last 15 years. MEASURES Prevalence, mortality, frequency of AFD manifestations, and impact of disease on patient...

Angiokeratoma corporis diffusum is a disorder which has tended to escape the attention of paediatricians, though the first symptoms and signs usually develop during childhood. Since the original independent descriptions in 1898 by Anderson and by Fabry, it has been recognized as a systemic disease rather than a dermatological curiosity. Recent work by Sweeley and Klionsky (1963, 1966) suggests ...