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

Détails

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Etat: Public
Version: Final published version
Licence: CC BY 4.0
ID Serval
serval:BIB_F18ECE2A85F7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Périodique
Orphanet journal of rare diseases
Auteur⸱e⸱s
Gariani K., Nascimento M., Superti-Furga A., Tran C.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Statut éditorial
Publié
Date de publication
18/08/2020
Peer-reviewed
Oui
Volume
15
Numéro
1
Pages
210
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: epublish
Résumé
Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged as a new and challenging reality. This purpose of this study of adults with IMD in an adult metabolic clinic at two academic hospitals (Lausanne and Geneva) was to help inform decisions on the future organization of health care for this group of patients.
All adult patients with a biochemical and/or genetic diagnosis of IMD followed at the clinics were included in the study. Electronic patient records were reviewed for clinical features, diagnostic studies, treatment and long-term outcome. Data of undiagnosed patients referred for suspected IMD were analyzed separately.
126 patients were included in the study. The most prevalent group of diseases was small molecules disorders with 82 (65%) patients, followed by energy defects disorders with 29 (23%) patients and complex molecules disorders with 15 (12%) patients. Overall, 64% of patients were diagnosed before, and 36% after the age 16 years. Among the 126 cases, 51% suffered from medical complications. 79% of the patients were receiving a specific treatment for their disease. Among the 138 undiagnosed patients referred for suspicion of IMD, investigations lead to a genetic diagnosis in 24 (17%) patients. 19 had confirmation of an IMD, 5 were found to have another genetic condition.
This retrospective study reveals significant features of adult IMD cohort. The disorders are heterogeneous, and there is no one-size-fits-all approach - treatment must be tailored to fit each specific disorder in each individual patient. Even patients who are followed at the dedicated clinic are not protected from metabolic decompensations and/or chronic organ-specific complications. While it is commonly assumed that patients with IMD are more stable once they become adults, our data show that the diseases continue to exact a lifelong toll. A coordinated monitoring of target organs by a multidisciplinary team is needed. To ensure that the success in diagnosis and treatment of individuals with IMD is sustained, there is a clear requirement for adequately staffed adult IMD clinics.
Mots-clé
Adult metabolic clinic, Complications, Inherited metabolic diseases, Treatment
Pubmed
Open Access
Oui
Création de la notice
07/09/2020 11:17
Dernière modification de la notice
15/01/2021 8:12
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