World Rare Disease Day was established in 2008 by the European Organization for Rare Diseases (EURORDIS) and has since been celebrated on the last day of February, with the aim of raising public awareness and strengthening the health system regarding rare disease prevention and prevention. their treatment. The main goal is the immediate access of patients with rare diseases to holistic health care and the improvement of their quality of life. Improving the provision of health care for Rare Diseases is a major challenge, due to the relative lack of epidemiological and scientific data.
A disease is considered rare when it affects 5 in 10,000 people in the general population. More than 8,000 diseases have been recorded as rare to date. It is estimated that about 10% of the general population will be infected at some point during their lifetime. That is, about 30 million people in the European Union and about 1 million Greeks are or will be affected by a rare disease.
Rare diseases are characterized by low incidence and high heterogeneity. Most of them are genetic diseases, congenital malformations, rare forms of childhood cancer, as well as hematological, autoimmune, dermatological, endocrinological, cardiological, respiratory, gastrointestinal, metabolic, neurological and neuromuscular, orthomuscular, orthomuscular. Usually due to the informal clinical picture the diagnosis is delayed and these rare diseases can be life threatening or lead to chronic dysfunctions. The cooperation of many specialties is required and only with an interdisciplinary approach can they be diagnosed and treated in time.
The main features of rare diseases according to the website of the European Agency for Rare Diseases are the following:
Rare diseases are serious to very serious, chronic, often degenerative and life-threatening.
• The first appearance of symptoms occurs in childhood in 50% of rare diseases.
• They cause disabilities: the quality of life of people with rare diseases is degraded due to lack of autonomy.
• They cause great mental pain: the psychological burden caused by illness increases due to despair, lack of hope for cure, lack of help in everyday life.
• They are incurable diseases, most without effective treatment. In some cases it is possible to treat their symptoms in order to improve their quality of life and survival.
• It is very difficult in terms of treatment management: families face great difficulties in finding appropriate treatment.
The National and Kapodistrian University of Athens, according to Rector Thanos Dimopoulos, taking an extremely important step in upgrading the provided health services, which promote documented health care, patient-centered care and patient participation in the management of the disease and the management of the disease. Health, in 2020 proceeded to the establishment-establishment of 18 Centers of Expertise of Rare and Complex Diseases, while the establishment of others follows.
The Rare Disease Expertise Centers of the Medical School of the National and Kapodistrian University of Athens are the following:
Center for Expertise of Rare Systemic Autoinflammatory and Autoimmune Diseases, Clinic of Pathological Physiology (“LAIKO” Hospital)
Center for Rare Diseases of the Connective Tissue and Musculoskeletal Diseases, Clinic of Pathological Physiology (“LAIKO” Hospital)
Center for Rare Diseases of the Connective Tissue and Musculoskeletal Diseases, Primary Teaching Pathology Clinic and Special Nosology, Autoimmune Rheumatic Diseases Unit (“LAIKO” Hospital)
Rare Endocrinology Diseases Expertise Center, AD Pathology Clinic, Endocrinology Unit (“LAIKO” Hospital)
Center for Rare Endocrine Diseases of Adults, Rare Disorders of Calcium and Phosphorus Metabolism, AD Pathology Clinic, Endocrinology Unit (“LAIKO” Hospital)
Rare Neuroendocrine Neoplasms Expertise Center, Primary Teaching Pathology Clinic and Special Nosology, Endocrinology Unit (“LAIKO” Hospital)
Center for Expertise of Rare Auto-Inflammatory and Autoimmune Diseases, Primary Teaching Pathology Clinic and Special Nosology, Autoimmune Rheumatic Diseases Unit (“LAIKO” Hospital)
Center for Expertise of Rare Autoimmune and Auto-Inflammatory Diseases, AD Neurological Clinic (“AEGINITIO” Hospital)
Rare Epileptic Diseases Expertise Center, AD Neurological Clinic (“AEGINITIO” Hospital)
Rare Neurological Diseases Expertise Center, AD Neurological Clinic (“AEGINITIO” Hospital
Rare Neuromuscular Diseases Expertise Center, AD Neurological Clinic (“AEGINITIO” Hospital)
Center for Expertise of Rare Hematological Diseases of Children and Adults, 2nd Clinic of Venereal Diseases and Skin Diseases (“ATTIKON” Hospital)
Center for Expertise of Rare Endocrinological Diseases of Children, Primary Pediatric Clinic, Unit of Endocrinology, Metabolism and Diabetes (“Hagia Sophia” Hospital)
Center for the Expertise of Rare Diseases of Genetic Predisposition to Cancer., AD Pediatric Clinic, Unit of Special Therapies of Hematology-Oncology (“I AGIA SOFIA” Hospital)
Center for Expertise of Rare Hematological Diseases of Children, AD Pediatric Clinic, Unit of Mediterranean Anemia-Hereditary Anemias (“AGIA SOFIA” Hospital)
Rare Pediatric Cancer Expertise Center, Pediatric Clinic, Department of Pediatric Hematology-Oncology and Special Hematology-Oncology Unit (“AGIA SOFIA” Hospital)
Center for Rare Adrenal Kidney Diseases, Nephrology and Kidney Transplant Clinic (“LAIKO” Hospital)
Center for Rare Malignant Hematological Diseases of Adults, Hematology Clinic (“LAIKO” Hospital)
These Centers, Mr. Dimopoulos emphasizes, have specialized knowledge for the diagnosis, care, monitoring and management of these patients. They have the necessary equipment, provide a high level of health services, formulate guidelines and contribute to the promotion of research, ensuring that the care provided is patient-centered. They cooperate systematically with patients’ associations, but also with other centers and networks at national and European level.
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