Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Abstract

Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments. We aimed to analyze the clinical characteristics of adult patients with IEMs who attend the most important Spanish hospitals caring for these conditions. A cohort study was conducted in 500 patients, categorized by metabolic subtype according to pathophysiological classification. The most prevalent group of IEMs was amino acid disorders, with 108 (21.6%) patients diagnosed with phenylketonuria. Lysosomal storage disorders were the second group, in which 32 (6.4%) and 25 (5%) patients had Fabry disease and Gaucher disease respectively. The great clinical heterogeneity, the significant delay in diagnosis after symptom onset, the existence of some degree of physical dependence in a great number of patients, the need for a multidisciplinary and coordinated approach, and the lack of specific drug treatment are common features in this group of conditions.

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

“…As expected, the most frequent disorder was PKU (including hyperphenylalaninemia), representing 23 (18.3%) cases. This frequency is close to the Report of the SSIEM adult Group (20.6%) and a study from Perez-Lopez et al (21.6%) where 500 cases of adult patients with IMD from Reference Centers in Spain were reviewed [12]. The high prevalence of PKU may also be due to the fact that it has been the first disorder included in newborn screening programs [23].…”

“…Firstly, patients with Fabry disease were not included in this study as they were followed at a parallel dedicated clinic. However, previous studies showed that Fabry disease was one of the most prevalent IMD in adults with diagnosis almost exclusively in adulthood [12,18]. This may affect the interpretation of the disease frequencies and age group at diagnosis in our cohort and its comparison with previous studies.…”

“…Little is known on long-term outcomes of childhood IMD as many of the "first survivors" are only now approaching middle age. Exploring the long-term outcomes of these patients is, nonetheless, important from the viewpoint of developing the optimal treatment strategy over a lifetime [12]. In order to meet this growing demand, programs with a higher level of formal training in adult IMD are underway in several countries [13] leading to adult metabolic physicians specializing in this new and expanding medical discipline [14].…”

Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

“…As expected, the most frequent disorder was PKU (including hyperphenylalaninemia), representing 23 (18.3%) cases. This frequency is close to the Report of the SSIEM adult Group (20.6%) and a study from Perez-Lopez et al (21.6%) where 500 cases of adult patients with IMD from Reference Centers in Spain were reviewed (12). The high prevalence of PKU may also be due to the fact that it has been the rst disorder included in newborn screening programs (23).…”

“…Little is known on long-term outcomes of childhood IMD as many of the " rst survivors" are only now approaching middle age. Exploring the long-term outcomes of these patients is, nonetheless, important from the viewpoint of developing the optimal treatment strategy over a lifetime (12). In order to meet this growing demand, programs with a higher level of formal training in adult IMD are underway in several countries (13) leading to adult metabolic physicians specializing in this new and expanding medical discipline (14).…”