Lithuania - Healthcare Professionals

About Rare Diseases

Rare diseases are defined by their frequency in the population (no more than one case per 10,000 inhabitants). The frequency of most of these diseases is much lower, but the total number of rare diseases is about 6,000 to 8,000, with 2 to 5 new rare diseases described each week. Therefore, the cumulative population prevalence of rare diseases is at least 3.5 to 5.9 percent of the population at any given time (excluding rare oncological, infectious diseases, and poisonings), which amounts to 263 to 446 million people worldwide, 24 to 30 million people in the European Union, and about 174,000 patients with rare diseases in Lithuania. The diversity of these diseases is remarkable—they can affect any organ or body system, and patients of all age groups, therefore, physicians of all specialties encounter patients with rare diseases. Up to 80% of rare diseases are of genetic origin, while others are caused by various other factors, including oncological, metabolic, autoimmune, infectious, and other rare diseases. These diseases can cause various forms of disability, deteriorate the quality of life for the patient and their family, and impair their integration into society. Due to the rarity and complexity of rare diseases, centralization of services and resources and extensive collaboration are necessary; it helps to ensure sufficiently safe and quality services for patients and families and effectively address the many challenges associated with rare diseases.

National Action Plan for Rare Diseases

The National Action Plan for Rare Diseases (Order of the Ministry of Health of the Republic of Lithuania https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/TAIS.435635) was developed in cooperation with responsible institutions, healthcare professionals, and patient organizations, and was approved in 2012. The plan outlines areas of action based on the Council of Europe’s recommendation on rare diseases dated June 8, 2009 (2009/C 151/02) and the needs of the country. The aim of the plan is to identify and structure current and future actions related to rare diseases, integrating them into the healthcare system. It seeks to establish a common approach to rare diseases, improve the quality of life for patients with rare diseases, raise public awareness about rare diseases, ensure early diagnosis of rare diseases, quality treatment, nursing, rehabilitation, social support, and prevention of rare diseases by utilizing all accumulated scientific and clinical experience, optimizing the delivery of personal healthcare services, provision of medications and medical devices, and rational utilization of available resources.

 In 2021, by order of the Ministry of Health of the Republic of Lithuania, a Rare Diseases Health Policy Group was established. It is comprised of representatives from responsible institutions, specialized healthcare treatment facilities, universities, and patient organizations (Rare Diseases Health Policy Group https://sam.lrv.lt/lt/struktura-ir-kontaktine-informacija/komisijos-ir-darbo-grupes/retu-ligu-sveikatos-politikos-grupe/). The purpose of this policy group is to coordinate the priorities of the National Action Plan for Rare Diseases and personalized medicine, including general EU and national actions.

Centers for Rare Diseases and European Reference Networks

 Competence and Reference Centers for Rare Diseases

A rare diseases competence center is an organizational unit of a university hospital that ensures highly-specialized, integrated healthcare of patients suffering from rare diseases and meets established requirements. A rare diseases reference center is a rare diseases competence center located in a healthcare institution that is a Full Member or Affiliated Partner of the relevant European Reference Network. The criteria for competence and reference centers for rare diseases are defined by an order from the Ministry of Health of the Republic of Lithuania (Order of the Ministry of Health https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/c942b9c0618611efad96fef38de4d94a?jfwid=bkaxlvwa). Lists of rare diseases competence and reference centers are published on the websites of university hospitals (VULSK https://www.santa.lt/retos-ligos/ and LSMU KK https://kaunoklinikos.lt/struktura-ir-kontaktai/centrai/retu-ir-nediagnozuotu-ligu-koordinacinis-centras/).

Rare disease competence and reference centers provide complex, highly specialized services that require additional knowledge and skills. To ensure the proper quality of services, accumulation of experience, and rational use of human and technological resources, centralization of these services is a prerequisite. Therefore, rare diseases competence and reference centers are established in tertiary-level university hospitals, which provide not only highly specialized healthcare services and integrated, multidisciplinary care but also training and research activities. Multidisciplinary care involves a team-based approach from various specialties, combining knowledge, skills, and experiences from different fields to provide comprehensive care that addresses the physical and psychosocial needs of the patient and their family. Multidisciplinary teams are created for specific diseases or groups of diseases and often include not only representatives from various medical fields but also psychologists and social workers. One advantage of such work is that patients receive services in a coordinated manner, often referred to as the «one-stop-shop» principle, with all specialists adhering to the same clinical practice recommendations.

Currently, there are 39 rare diseases competence and reference centers operating at Vilnius University Hospital Santaros Clinics (VULSK) and 25 centers at the Lithuanian University of Health Sciences Kaunas Clinics (LSMU KK).

Coordination centers for rare diseases have been established at VULSK and LSMU KK (VULSK https://www.santa.lt/retu-ligu-koordinavimo-centras-apie-centra-3/, LSMU KK https://kaunoklinikos.lt/struktura-ir-kontaktai/centrai/retu-ir-nediagnozuotu-ligu-koordinacinis-centras/). Their main purpose is to coordinate the activities of rare diseases competence and reference centers, provide information about services offered to patients and families, and participate in national policy groups related to rare diseases.

European Reference Networks (ERN).

Many challenges in the field of rare diseases cannot be addressed without extensive international collaboration (Tumienė et al., 2021 https://pubmed.ncbi.nlm.nih.gov/33733400/). The basis for cooperation between health systems of EU countries in the field of rare diseases and the establishment of ERNs is the Directive 2011/24/EU of the European Parliament and Council, adopted in 2011, regarding the implementation of patients’ rights in cross-border healthcare (2011 Directive https://eur-lex.europa.eu/legal-content/LT/TXT/?uri=CELEX:32011L0024). The main activities of the ERNs are:

• Virtual clinical practice, using an international electronic system compliant with data security requirements, discussing complex clinical cases of patients with rare diseases.
• Cross-border healthcare services.
• Development of clinical practice recommendations and evidence-based resources.
• Training, capacity building and development of training programs.
• Biomedical, clinical, epidemiological, and other research.
• Establishment of databases and biobanks for research, management, and collection/ sharing of rare disease data.
• Education and dissemination.

Established in 2017, the European Reference Networks consist of over 1,600 reference centers for rare diseases from various European countries (ERN https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks_en). True ERN Members must meet particularly high requirements and undergo complex international evaluation procedures. VULSK Santaros Clinics participate in 12 ERN activities as a True Member, and in 6 ERN activities as an Affiliated Partner. LSMU KK participates in 5 ERN activities as a True Member, and in 8 ERN activities as an Affiliated Partner. Lithuanian rare diseases reference centers participate in all 24 ERN activities and ensure that Lithuanian citizens have access to the best practices of all ERNs.

Care Pathways for Rare Diseases

Due to the unique characteristics of rare diseases, the creation of care pathways for rare diseases requires unique solutions (Tumienė et al., 2021 https://pubmed.ncbi.nlm.nih.gov/33738760/). Care pathways for rare diseases are very broad in scope, crossing not only regional boundaries within a single country but also state borders. The entry points of the care pathway are harder to define because these diseases are difficult to recognize and diagnose. Management of transitional periods and acute conditions is more complex, and care pathways often involve a lot of highly-specialized services. The role of patient and family education and empowerment is very important, as is intersectoral and international collaboration, the application of digital technologies, and ensuring the connection between clinical practice and research. In Lithuania, much attention is given to the development and implementation of care pathways for rare diseases: in 2022, the «Diagnostics, Treatment, and Long-term Care Methodology for Rare Diseases» was published (https://sam.lrv.lt/uploads/sam/documents/files/Veiklos_sritys/Asmens_sveikatos_prieziura/Metodiniai%20dokumentai/RETOS%20LIGOS.pdf); in 2024, the «Description of the Diagnostic, Treatment, and Care Procedure for Patients with Rare Diseases» was approved by the Ministry of Health of Lithuania (https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/c942b9c0618611efad96fef38de4d94a?jfwid=bkaxlvwa). Specialized services are provided to people living with rare diseases (PLWRD) and their families, including coordinated multidisciplinary outpatient services (https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/8a2d87c0f1d311e3a8c1a1dee39661ca), long-term continuous care provided by a named healthcare professional in a given rare disease competence or reference center (https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/a22b07c0a0e911e383c0832a9f635113?jfwid=5sjolg36v), and specialized psychological consultations https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/ffcbdf70250511efb121d2fe3a0eff27). Currently, development  of care pathways for specific rare diseases and groups of rare diseases is an actively ongoing process.

Care pathways for rare diseases are highly diverse, with the main components being rare disease prevention, rare disease recognition and referral for diagnosis, specialized diagnostics, specialized and symptomatic treatment, multidisciplinary care, service coordination and case management, management of acute conditions, and ensuring service continuity during transitional periods (such as transitioning from pediatric to adult care, perinatal care, and palliative care), patient education, information, emotional and psychological support, and social assistance. Upon establishing the diagnosis of a rare disease, an individual care plan is prepared in the rare disease competence or reference centers, detailing the necessary steps in the care pathway, the distribution between highly specialized and locally provided services, and the division of responsibilities along with any other necessary information.

Rare Disease Prevention: Newborn Screening

In Lithuania, all newborns are screened for 12 inherited and congenital diseases (https://e-seimas.lrs.lt/portal/legalActEditions/lt/TAD/d0a3f940e6d011e3a0be833418c290fb?faces-redirect=true); this screening ensures timely diagnosis and treatment and ensures optimal outcomes for patients and families.

Specialized Diagnostics for Rare Diseases: In almost all cases, rare disease diagnostics is highly-specialized and complex, requires specialized equipment, expertise and competencies and often involves multidisciplinary teamwork. Since about 80% of rare diseases are genetic disorders, genetic diagnostics is very important. Since 2014, genomic tests based on next-generation sequencing and other advanced methods have been reimbursed for the diagnosis of genetic diseases (https://e-seimas.lrs.lt/portal/legalActEditions/lt/TAD/493feea0952611e4b92e9028929aad91). More than 600 new cases of rare genetic diseases are diagnosed annually in VUH Santaros klinikos Medical Genetics Center (https://www.santa.lt/medicinines-genetikos-centras-apie-centra/). Other highly specialized diagnostic methods for rare diseases are applied in rare disease competence and reference centers. Upon establishing the diagnosis of a rare disease, an ORPHA code is assigned; the ORPHA code can only be assigned in rare disease competence and reference centers (https://e-seimas.lrs.lt/portal/legalAct/lt/TAD/5cb702d1ee1e11ec8a3a9ec3b65fdf23).

Specialized Treatment for Rare Diseases: specialized treatment of rare diseases is regulated through the legislation of the Ministry of Health of Lithuania and the State Health Insurance Fund https://ligoniukasa.lrv.lt/lt/veiklos-sritys/informacija-gyventojams/labai-retu-zmogaus-sveikatos-bukliu-gydymas/). Decisions regarding treatment with these medicines are made by the Commission for Compensation of Costs of Treatment for Very Rare Human Health Conditions (https://e-seimas.lrs.lt/portal/legalActEditions/lt/TAD/652656b0b00311e59010bea026bdb259).