Centro Hospitalar e Universitário de Coimbra, E.P.E.

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

Differentiated care in IEM began in the late 1980s in Paediatric Hospital-CHUC. Currently, a Metabolic Clinic for paediatric and adults patients, including neonates and pregnant women, is fully active. It is a National Neonatal Screening Programme and a Lysosomal Disease Treatment Centres. It is one of four Reference Centre for IMD ‘recognized by the Portuguese Ministry of Health.

Specialized multidisciplinary teams are dedicated to paediatric and adult IMD patients.
The multidisciplinary team activity is supported by all facilities of a tertiary Hospital Centre providing specialized care in all specialities, including permanent emergency and intensive care.

Patients have direct access to diagnostic and therapeutic up-to-date techniques.

The few lab parameters and the rare procedures that are not done in CHUC, namely some specific metabolites and molecular analysis, pre-implementation diagnosis and stem cells transplantation are provided through collaboration protocols with specialized laboratories and departments, even in an emergency basis. CHUC has `celebrated protocols with national laboratories with expertise in IMD whose professionals collaborate in patient ‘diagnostic and follow-up discussion.

Patients are mostly followed in the Outpatient Clinic. Facilitated access to caregivers is provided through phone and email, particularly in cases prone to metabolic decompensations. A transition protocol between paediatric and adult clinics is applied, with shared visits between 16 and 18 years of age.

Collaboration with patients associations has been developed in diverse ways, namely in meetings and publications.

Specialized consultant services are provided to other CHUC Departments and Physicians from the Centre Region of Portugal and many from other regions.

All the staff of our Reference Centre has a permanent position in CHUC, so that continuity of care is assured. `CHUG Metabolic Reference Centre develops contacts and cooperation with peers, both at national and international levels. We are involved in several investigation projects, patient registries and clinical trials. A PhD and several master’s degrees on IMD were fostered in our Centre.

We develop a significant and continuous activity in the area of IEM in the pre- and post-graduated formation of physicians and other health professionals. We promote an Annual Basic Metabolic Course (13th edition in 2015) and are responsible for the local organization of the Portuguese Society for Metabolic Diseases (SPDM) annual international symposium every three years, besides that of multiple thematic courses and meetings and frequent collaborations. Our group has been permanently represented in the SPDM directive board and we integrated the scientific committee of the 12 editions of the SPDM Symposium. Many are also SSIEM affiliates, including the Portuguese Corresponding Member.

Continuous formation of the staff is likewise assured. Nutritionists participate in SPDM, SSIEM dietician group.