It is part of three Networks of Clinical Experience Units (XUEC) in Minority Diseases in adults existing in Catalonia. About 3,000 patients are treated with more than 200 rare pathologies.
This Sunday, February 28, the World Day for Rare Diseases is celebrated with the slogan in Catalonia "Together we make pineapple".
Since 2017, the Group of Minority Diseases (MM) of the Bellvitge University Hospital (HUB) has been consolidating itself as a benchmark in the care of some 3,000 patients with more than 200 rare diseases. The recognition as clinical experience units (UEC) of the Catalan Health Service in three large areas of the MM in recent months reinforces the care of these patients as one of the hospital's priorities.
According to the model of care for minority diseases in Catalonia, the UECs are integrated into a network (XUEC) with the aim of promoting coordination and the transfer of knowledge between professionals in both hospital and primary care. The designation as UEC is obtained according to the fulfillment of a series of requirements that refer to the equipment, professionals and procedures that the requesting center has.
So far, five calls for XUECs have been resolved, one of them exclusively for pediatric patients. In three of the adults, the Bellvitge University Hospital has been designated as part of an XUEC.
Minor neuromuscular diseases
The minority diseases treated by the UEC of the Bellvitge University Hospital include diseases of the nerves (Charcot-Marie-Tooth); neuromuscular junction (myasthenia gravis, Eaton-Lambert syndrome); diseases of the muscles and motor neurons (such as ALS or spinal muscular atrophy).
The common feature of these diseases is the fact that they are very limiting for patients, with complicated evolutions in certain cases and that they require a highly specialized and multidisciplinary approach. "Meeting these requirements would not be possible without an experienced healthcare network such as the XUEC, which allows us to control diseases in the same center, globally and in coordination with primary care and other centers, both in person and by implementing telemedicine" says Dr. Carlos Casasnovas, coordinator of the UEC in minority neuromuscular diseases at the hospital, which treats some 2,500 patients.
The XUEC for immune diseases in the area of primary immunodeficiencies mainly cares for patients with antibody deficiencies. Primary immunodeficiencies (PID) include more than 350 entities of genetic cause that condition an inadequate response of the immune system. "The improvement of the global knowledge of these diseases, complex from the care, diagnosis and therapeutic point of view, has meant that in recent years the number of patients treated in our center has increased", explains Dr. Xavier Solanich, from the Internal Medicine Service of the Bellvitge University Hospital and coordinator of the UEC.
In order to respond to the cross-sectional and collaborative care needed by the 150 patients who are treated by IDP at the Bellvitge University Hospital, the Functional Unit for Primary Immunodeficiencies of the Adult (UFIP) was created, which integrates professionals from different hospital services, as well as of primary care. It also works in coordination with the Bellvitge Biomedical Research Institute (IDIBELL).
Hereditary lysosomal diseases Lysosomal diseases constitute a group of about 50 hereditary metabolic pathologies caused by the malfunction of lysosomes, intracellular organelles essential in the processes of cell turnover. Currently, the Bellvitge University Hospital cares for 60 patients with the main lysosomal diseases: Fabry, Gaucher, Pompe and Niemann-Pick C.
"Our activity is focused on patients and their needs, on making it as easy and comfortable as possible for them, ensuring optimal accessibility, care, diagnosis, treatment and monitoring, while promoting research and collaborating with professionals in the territory who attend to them and the rest of the members of the XUEC ", according to Dr. Jordi Gascón, coordinator of this UEC.
An essential factor in the care of rare diseases, many of them of a chronic nature, is to guarantee a correct follow-up in the different stages of life. The Bellvitge University Hospital pays special attention to the care transit of the pediatric age, where many of these diseases have already been identified, to the adult. In this sense, the collaboration agreement with the San Juan de Dios Children's Hospital is framed, which allows patients to transition once they exceed the maximum age for pediatric care in the best conditions to guarantee continuity of care.
This experience in minority diseases has led to interest in rotating the different Units of this Group of Minority Diseases by medical residents from all over Spain.