Fabry disease

A historical perspective, from dermatologic semiology to genetic correlation

Abstract

Objectives: 1) To highlight the core issues in the historical development of Fabry's disease. 2) To identify the areas of medicine that have contributed to current knowledge of the disease. 3) To participate in medical education in the context of the construction of knowledge.

Materials and methods: a review of the literature from 1898 to 2009 through Pubmed, Embase, Ovid, Science Direct, SpringerLink, Blackwell Synergy, MD Consult, ProQuest, HighWire, and the library and archive of the National University of Colombia.

Results: 2.181 articles concerning Fabry's disease were found. Articles in English and German were selected, laying emphasis on historical revisions, case reports or series of important cases, clinical trials, systematic reviews, and reviews in general. Of all the items selected, 66 were taken into account for our analysis, due to their historical interest and clinical application.

Conclusions: Fabry disease, although rare and little known, shows the course from clinical observation to genetic and pathophysiological settings, in a multi-context that continues to be a challenge for clinicians today. While initial descriptions are from Northern Europe, we can show the great contribution of American literature to the understanding of the molecular and therapeutic aspects of the disease. During the last two decades, Japanese investigators have identified new clinical presentations and chromosomal variations.