Follow-up of Patients with Hereditary Metabolic Diseases during the 3 Years of the Pandemic in the Reference Center for Hereditary Metabolism Diseases of the Centro Hospitalar Universitário Lisboa Norte

Abstract

Introduction: The adult unit of the Reference Center for Hereditary Metabolism Diseases of the Centro Hospitalar Universitário Lisboa Norte was created in 2002. The team that supports this unit is made up of several specialists, including 2 Internal Medicine Doctors and 2 Nutritionists. The unit carries out its activity mainly in an outpatient clinic on Fridays. Between March 2020 and December 2022, the team adapted the support given to this unit, transforming some external appointments into non-face-to-face appointments in order to maintain contact with patients and reduce the deslocation to the CHULN.

Methods: The analysis reported below reflects the activity in face-to-face and non-face-to-face appointment of the medical team and nutrition team in the critical period.

Results/case report: A total of 220 patients were evaluated, 56.4% female and 43.6% male. Regarding the evaluated pathologies, these were divided into 3 groups: aminoacidopathies - 40%, organic aciduria - 6.5% and other metabolic diseases - 53.5%. During these three years a total of 580 nutrition appointments were scheduled, 457 face-to-face and 123 non-face-to-face. 32% of patients scheduled did not attend the appointments or it was not possible to make telephone contact. This percentage is divided into 90% face-to-face appointments and 10% nonface- to-face appointments. Regarding medical appointments, the total was 797, 667 of which were face-to-face and 130 non-face-to-face. 16.8% of absences were registered in face-to-face and non-face-to-face appointments. 98.5% of absences concern non-face-to-face appointments.

Conclusion: Despite the troubled period worldwide, support for these patients was always ensured, both by the Medical team and the Nutrition team. Despite the solutions found to keep patients safe, in this specific period, the % of absences from the outpatient clinic is quite high, and one of the main justifications presented by the patients is related to the fact that they are afraid to go to the hospital. With regard to absences recorded in non-face-to-face appointments, there were several situations in which patients reported not being able to answer the phone during their working hours.

Keywords: HMD; medical team; nutritional team; outpatient clinic; pandemic; patiente follow-up.