What diseases are considered rare?
In the European Union, any disease affecting fewer than 5 people in 10 000 is considered to be rare. There are thousands of different rare diseases and they affect around 30 million people in the European Union – around 7% of its population. It is estimated that there could be up to 200,000 people with rare diseases in Lithuania alone. While being so prevalent when combined, each rare disease must be considered individually as it has a unique pattern of clinical manifestations and course. Regardless of their cause, rare diseases can start at any age and affect either only one human organ or multiple body systems. Most – up to 80% - of rare diseases are of genetic origin.
All rare diseases severely impair the quality of life of patients and their relatives, hinder their integration into society and may even be life-threatening. Effective diagnosis of rare diseases depends on the range and quality of diagnostic methods that are employed as well as the competence and experience of treating specialists and assisting members of the team. Accurate and timely diagnosis of any individual rare disease is a key factor in organizing and planning optimal long-term treatment, which may be very specific and require consistent follow-up care for patients and their families. Such attention, if provided, often prevents the patients from undergoing costly and invasive diagnostic and therapeutic procedures.
The Center for Coordination of Rare Diseases at Vilnius University Hospital Santaros Klinikos brings together 39 specialized centers of excellence that provide care for patients with rare diseases. Each center is led by experienced teams of specialists trained in diagnosis, treatment, medical education and research of various rare diseases.
The main aims of the Center for Coordination of Rare Diseases are to provide a timely and accurate diagnosis for both children and adults who are suspected to suffer from a rare disease, as well as to improve access to existing treatment options, which may ameliorate patient outcomes and their quality of life. The Center also provides an environment for conducting basic and clinical research that broadens our understanding of the causes, mechanisms and management options for rare diseases.
At Vilnius University Hospital Santaros Klinikos, specialists have access to the most advanced examination and diagnostic technologies for different parts of the diagnostic process, which may include laboratory, molecular, pathological, instrumental, and radiological testing. The Center for Medical Genetics is the only medical institution in Lithuania that performs biochemical genetic testing and universal screening of newborns for inherited rare diseases. Patients receive treatment based on prior testing with advanced genomic research methods – molecular karyotyping and next-generation sequencing. Further, the Center for Laboratory Medicine is the largest provider of laboratory diagnostics nationwide, and the State Pathology Center, a branch of Vilnius University Hospital Santaros Klinikos, has long-standing experience in using state-of-the-art equipment and the most reliable methods of pathological investigation when diagnosing a wide range of rare diseases. The infrastructure for routine use of the different investigation methods, combined with the specialists’ competence and experience in the field, ensures high quality of care when diagnosing both congenital and acquired rare diseases.
Patients that are referred to one of the Centers for Rare Diseases benefit from a multidisciplinary and personalized approach by leading specialists from all medical fields. A thorough diagnostic process is followed by patient-centered selection of treatment options, which include the latest modern treatment methods, such as novel surgery options, chemotherapy, immunotherapy, targeted therapy, cell therapy, apheresis and organ or bone-marrow transplantation. Such care is supplemented by long-term monitoring of the course of the disease, psychological and social assistance.
Useful links about rare diseases: http://www.orpha.net/national/IE-EN/index/about-rare-diseases/, general information: https://www.orpha.net/.
The results of many years of work, accumulated experience, and international recognition are affirmed by the fact that Santaros Klinikos is the only institution in the Baltic States which unites 12 centers of excellence accredited as members of European Reference Networks (ERNs) for rare diseases.
European Reference Networks provide an opportunity for European healthcare providers to share their knowledge with others. The aim of these networks is to improve the care of rare and complex diseases that require special research and treatment and to carry out educational and research activities in the field of rare diseases. ERN provides telemedicine services, develops recommendations and training programs on good clinical practice, organizes internships and training, and discusses patient cases, which significantly improves the quality of services provided. In some cases, the provision of cross-border services is organized through counseling and treatment of the patient in other medical institutions.
- Center of Rare Kidney Diseases and Malformations of the Urogenital System (Children) and Adult Center for Rare Kidney Diseases and Thrombic Microangiopathies - ERKNet (European Network of Reference Centers for Rare Kidney Diseases).
- Center of Huntington disease - ERN-RND (European Reference Center for Rare Neurological Diseases).
- Center of oncohematological diseases, Center of Hemophilia and Coagulation Disorders, Center of Amyloidosis - EuroBloodNet (European Reference Center for Rare Blood Diseases).
- Center of Hereditary Metabolic Diseases and Center of lipidology - MetabERN (European Network of Reference Centers for Hereditary Metabolic Disorders).
- Center of Pediatric Oncology and Cancer Surgery and Center of congenital heart defects - ERN TRANSPLANT-CHILD (European Network of Reference Centers for Child Transplantation).
- Center of Rare Urogenital Diseases and Complex Conditions - eUROGEN (European Network of Reference Centers for Rare Urogenital Diseases and Disorders).
- Center for Congenital Developmental Disabilities and Intellectual Disabilities - ITHACA (European Reference Center for Malformations and Rare Forms of Intellectual Disability).
- Pediatric Oncohematology and Oncosurgery Center - ERN PaedCan (European Network of Reference Centers for Pediatric blood Cancer).
- Center of Rare Hearing Disorders and Hearing Implantation (Children and Adults) - ERN-CRANIO (European Network of Reference Centers for Facial Skull Anomalies and Ear, Nose, Throat Disorders).
- Center of Congenital Vascular Anomalies - VASCERN (European Reference Network on Rare Multisystemic Vascular Diseases).
- Reference Center of Hereditary Cancer - ERN GENTURIS (European Reference Network on Rare Genetic Tumour Risk Syndromes)
- Reference Center for Rare Gastrointestinal and Hepatopancreatobiliary Diseases - ERN EURACAN (European Reference Network for all Rare Adult Solid Cancers)
Santaros Klinikos centers of excellence are an associated member of 6 European reference networks (ERNs):
- Center of Rare Bone Diseases - ERN-BOND (European Reference Center for Rare Bone Diseases).
- Center of Rare Epilepsies (Adults) and Center of Epilepsy and Sleep Disorders in Children - EpiCare (European Network of Reference Centers for Epilepsy).
- Center of Congenital Malformations - ERNICA (European Reference Center for Hereditary and Congenital Anomalies).
- Center of adult rare lung diseases, Center of Pulmonary Hypertension and Center of cystic fibrosis - ERN LUNG (European Network of Reference Centers for Respiratory Diseases).
- Center of rare cardiovascular diseases in adults - ERN GUARD-Heart (European Network of Reference Centers for Heart Disease).
- Center of Rare Rheumatic and Auto-Inflammatory Diseases in Children, Center of Rare Rheumatic Diseases and Center of Primary and Acquired Immunodeficiencies - ERN RITA (European Network of Reference Centers for Immunodeficiency, Auto-Inflammatory and Autoimmune Diseases).
The Rare Diseases Coordination Center fosters the development of biomedical research that promotes medical innovation, our patients are the first ones to receive new advanced therapies. Together with Vilnius University Faculty of Medicine and Santara Valley institutions, the center extensively cooperates in international rare disease research. Santaros Klinikos participates in various research teams, partners in many international projects and consortia.
The Center organizes and develops epidemiological studies of treatment outcomes and continuously improves treatment protocols according to the principles of evidence-based medicine. The specialists working at the center organize multidisciplinary discussions of highly qualified rare disease experts on rare diseases and very rare conditions, coordinate long-term monitoring of patients from birth, and transfer to adult specialist teams as adults. To this end, a unique monitoring system has been developed, which collects data on newly diagnosed cases of rare diseases, monitors the course of the disease, and evaluates the effectiveness of treatment. The data collected in it is analyzed and constantly updated.
In addition to providing comprehensive personal health care services to patients with rare diseases, the Rare Diseases Coordination Center engages in teaching, research, and educational activities for students, residents, and the medical community at all levels. Physicians from both the coordination and specialized rare diseases centers regularly attend international conferences, renew their knowledge and present the results of research conducted at the center.
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