Case reports

Clinical stability of Fabry disease in 54 months’ enzyme replacement therapy – follow-up of the first Polish study

Stanisława Bazan-Socha, Tomasz Miszalski-Jamka, Paweł Petkow-Dimitrow, Jacek Musiał
Published online: May 01, 2007
We present outcomes of 54 months’ agalsidase b enzyme replacement therapy of two 48- and 46-year-old brothers with Fabry disease. The diagnosis was confirmed in 1997, and at that moment serious damage of internal organs was observed. During enzyme replacement therapy in both brothers the following changes were observed: amelioration of gastrointestinal symptoms, gain of body weight and reduction of cardiac hypertrophy in ECG. In the older brother we observed: improvement in coronary blood flow, absence of angina pectoris, dyspnea, partial remission of headache and acroparaesthesia. Reduction of proteinuria, stabilization of creatinine clearance and appearance of perspiration were also noticed. In the younger brother, with a milder form of disease, we observed: improvement of hearing and vertigo, headache reduction, as well as stabilization of kidney function (although proteinuria was slightly increased). Unfortunately, acroparaesthesia and muscle pains in the legs became more severe. Enzyme replacement therapy in Fabry disease, even started in late adulthood, is effective by stabilizing organ functions and markedly improving quality of life.

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