Repeat abdominal ultrasound evaluation of 100 patients with type I Gaucher disease treated with enzyme replacement therapy for up to 7 years.

Abstract

With the advent of enzyme replacement therapy for Gaucher disease, there was a need to assess response to treatment repeatedly over relatively short periods of time; hence abdominal ultrasound was used in our referral clinic because it was convenient, safe and inexpensive. In 100 treated patients monitored for 2-7 years, nearly all had reduction in hepatosplenomegaly. The per cent reduction was more dramatic in patients who started treatment when older than 16 years. This effect may be explained by a correlation between per cent reduction and degree of baseline organomegaly. Because children often initiate therapy sufficiently early to preclude developing massive organomegaly, the observed per cent reduction is commensurately less. For all patients treated for more than five years, plateau-ing in response was seen after the first three years of treatment. This study permits us to reconsider less frequent evaluations of organ volumes. Our findings also underscore the efficacy of enzyme replacement, but raise the question of the need for dose reduction as nearly normal organ volumes are achieved.