Trigger points of palliative care assessment in inherited metabolic diseases.

The interaction between palliative care (PC) and inherited metabolic diseases (IMDs) is an area of increasing clinical importance. However, the integration of PC in this field remains limited due to several factors, including a lack of understanding of the specialty, reluctance to refer, limited resources and the absence of specific eligibility criteria for IMD patients. This article proposes a novel framework of trigger points to guide timely PC referral in the IMD field. Based on a review of the literature and the pathophysiological characteristics of IMDs, three pairs of illness trajectories were established. The first pair addresses intoxication disorders, comprising Group 1 (organic acidurias, urea cycle disorders and some aminoacidopathies) and Group 2 (metabolite repair defects, amino acids synthesis defects and the fatty acids synthesis defects. The second pair focuses on energy disorders, including Group 1 (fatty acid oxidation dirsorders [FAOD] and membrane transport disorders [MCT/GLUT]) and Group 2 (select mitochondrial disorders). The last pair covers complex molecules disorders, with Group 1 (storage disorders and congenital disroders of glycosylation [CDGs] and Group 2 (cellular processing and trafficking defects). The proposed trigger points for PC referral include the time of diagnosis, periods of prognostic uncertainty, challenges and burdens associated with dietary and treatment management, metabolic crises, the emergence of multimorbidity, adaptation to a “new normal”, and the consideration of new therapies or end-of-life care. This framework provides an opportunity for clinicians to establish a partnership with patients and their families to enhance care by focusing on the patient as the central figure of their illness trajectory.