When Fabry disease is not diagnosed and treated, complications such as arrhythmias, strokes, and gastrointestinal problems can occur, resulting in patients being referred to different medical specialists. The onset of nephropathy typically results in a referral to a nephrologist. But even at that stage, it can take several weeks or even months for some Fabry patients to receive a confirmed diagnosis. It is essential for nephrologists to be informed about the clinical presentation and pathophysiology of Fabry disease so they can better manage the ailment.
Click here to read the article by Dr. Warnock.
Images courtesy of Genzyme.
