The creation of multidisciplinary teams would allow early diagnosis of the rare diseases.
round table of the Group of minority diseases of the last Congress national SEMI.
-the experts stress the importance of coordination of different medical specialties to avoid the delay in the diagnosis, is often several years
-Minority, or rare diseases affecting about 3 million Spaniards, are chronic diseases that often cause disability and have a major psychological and social impact for patients and their family environment
Madrid, December 2011.- during the last National Congress of the SEMI (Spanish society of internal medicine) held in Maspalomas (Las Palmas de Gran Canaria)the members of the Group of diseases minority have emphasized the importance of creating multidisciplinary teams in hospitals that are familiar with the global problem of each patient for an early recognition of symptoms of rare diseases. Most of these diseases appear at an early age, while others have their first symptoms in adolescence or adulthood. In addition, most often, these diseases do not affect only a body, but it affected several of them, which entails an enormous difficulty diagnostic and hence the urgent need for coordination between various medical disciplines.
Multidisciplinary teams should ideally be trained by the geneticist, neurologist, cardiologist, rehabilitator, physiotherapist, psychologist and social worker. Centres hospital small is difficult to the formation of this team which is why, in these cases, the axis formed by internist and pediatrician is essential ”, underlined Dr. Jorge Francisco Gómez Cerezo, Chief of service of internal medicine of Hospital Infanta SofÃa in San Sebastián de los Reyes during his speech at the round table of the Group of diseases minority. This table has also been composed by Dr. Juan of Dios GarcÃa DÃaz, responsible for the unit of clinical genetics and Council genetic of the Hospital Universitario Prince of Asturias in Alcalá de Henares; Dr. Javier Barbatus, Chief of section of medicine internal of the Hospital Universitario La Paz of Madrid; Dr. Jordi Pérez López, Coordinator of the Group and head of the unity of diseases minority within the service of internal medicine of the Hospital Vall d ’ Hebron Barcelona; and DRA. Carmen Dominguez, of the Center for research in Biochemistry and Molecular-nanomedicine biology of rare diseases at the Hospital Vall D ’ Hebron.
For his part, Dr. Juan de Dios Garcia Diaz pointed out that it is important that there should be close collaboration between the internista doctor (in charge of the study of patients with multisystem involvement) and clinical geneticist (as a consultant for character Cross and an expert on genetic Pathology)which both complement each other and share a perspective common. clinical geneticist has the added value of their experience and skill in the diagnosis of rare diseases guidance and the ability to perform an appropriate genetic counselling. It should take into account that is a doctor with training and specific dedication to serve patients and families with hereditary diseases, most of them classifiable within the Group of rare diseases. In addition to master well the genetic and molecular mechanisms of these diseases, it has accumulated experience in recognition of their symptoms and physical alterations, which is very important to avoid the delay in diagnosis.
On the other hand, know in depth the usefulness and availability of diagnostic tests for each pathology, as well as the correct interpretation of their results ”, said Dr. GarcÃa DÃaz. Finally, has concluded that genetics, in general, contributed decisively to understand the origin of many of these diseases and genetics clinic favors immediate application in the patients of the progress of knowledge and technology ”.
Today advances have enabled that it has generated a big change in terms of treatment and improvement of the quality of life of patients. According to Dr. Javier Barbatus, the most amazing fact has been the passage of the palliative treatment (TSE) enzyme replacement treatment on diseases for deposit in the Lysosomes, Gaucher disease, Fabry, Pompe, Hunter, etc. El TSE improves the quality of life, for example those suffering from Gaucherbecause it reduces bone pain and frequency of bone crises, and Fabry, by remission of the most debilitating symptoms prevents ”.
Group of minority diseases of the SEMI
The Group of diseases minority was created with the aim of responding to the emerging health need of minority or rare diseases that today are a health priority, according to Dr. Jordi Pérez López.
As a next step, the Group of diseases minority intends to organize a series of meetings and congresses, such as the day II’s minority diseases and the round table within the XXXIII Congress of internal medicine; In addition to convene one scholarship to promote research and establish a Spanish registration of minority diseases in internal medicine (REMIN). The main objective of this group is to promote knowledge, research, records and guidelines for the diagnosis and treatment for this type of pathology.
Minority or rare diseases are defined as those low-prevalence diseases because they tend to affect 1 in every 2,000 people, although as a whole affect about 3 million people in Spain. Furthermore, are chronic diseases with frequent psychological and social impact, on some occasionsthey can produce disability.
About Shire HGT
Human Genetic Therapies is the Division of the biopharmaceutical company Shire which investigated and developed treatments for genetic diseases low prevalence of rare diseases: Hunter syndrome, Gaucher disease, Fabry disease and Hereditary Angioedema. Its mission is to improve the quality of life of persons suffering from these diseases and their families and to provide innovative drugs to help them cope with their illness.
Shire focuses its activity in specific therapeutic areas to provide excellent service to patients, carers and health professionals.
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