Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Abstract

Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term complications including cognitive disability, speech problems, neurological and/or movement disorders and, in girls and women, ovarian dysfunction. Further, there remains uncertainty surrounding what constitutes a 'best practice' for treating this disorder. To explore the extent and implications of this uncertainty, we conducted a small but global survey of healthcare providers who follow patients with classic galactosemia, seeking to compare established protocols for diagnosis, intervention, and follow-up, as well as the outcomes and outcome frequencies seen in the patient populations cared for by these providers. We received 13 survey responses representing five continents and 11 countries. Respondents underscored disparities in approaches to diagnosis, management and follow-up care. Notably, we saw no clear relationship between differing approaches to care and long-term outcomes in the populations studied. Negative outcomes occurred in the majority of cases regardless of when treatment was initiated, how tightly galactose intake was restricted, or how closely patients were monitored. We document here what is, to our knowledge, the first global comparison of healthcare approaches to classic galactosemia. These data reinforce the idea that there is currently no one best practice for treating patients with classic galactosemia, and underscore the need for more extensive and statistically powerful comparative studies to reveal potential positive or negative impacts of differing approaches.

Fig. 1

Long-term outcomes among patient cohorts grouped by average age at diagnosis. White bars represent data from respondents whose patients with classic galactosemia were diagnosed predominantly before 14 days of life (Netherlands, UK, Italy, and US (Cincinnatti, OH and Boston, MA). Shaded bars represent data from respondents whose patients with classic galactosemia were diagnosed predominantly after day 14 of life (Croatia, Mexico, and Philippines). Other respondents were not included in this figure due to lack of information. Some outcome parameters were evaluated in only a very limited number of patients for some groups, and data are not presented for ovarian function among patients diagnosed after day 14 of life because there were <3 patients in this group. The numbers of patients included in Table 1 do not necessarily match those presented in Fig. 1 as not all patients were able to be evaluated for all long-term outcomes. Data graphed in Fig. 1 include only those patients for whom relevant outcome information was available