Fabry center - English

The Fabry Center at the General Hospital (GH) Slovenj Gradec is the only specialised centre in Slovenia for the comprehensive diagnosis, treatment and management of patients with Fabry disease, which is a rare, inherited metabolic disorder.

Fabry disease is a rare, chronic, progressive genetic condition affecting multiple organs and systems such as the kidneys, heart, nervous system, gastrointestinal tract, skin and eyes. A mutation in the GLA gene leads to reduced or absent activity of the enzyme crucial for metabolising specific substances in the body. As a result, these substances accumulate within cells, causing gradual cellular damage and impaired organ function.

The symptoms of Fabry disease are highly variable and often begin in early childhood with severe limb pain (acroparesthesias), an inability to sweat, digestive issues and characteristic skin lesions (angiokeratomas). Psychological symptoms such as depression and chronic fatigue emerge over time, along with initial signs of target organ damage affecting the heart, kidneys and nervous system. Advanced organ damage frequently manifests in adulthood after 40 years of age and often requires dialysis, cardiac surgery or management of stroke sequelae. Due to the nonspecific nature of the symptoms, Fabry disease is difficult to recognise and often only diagnosed only after several decades. The introduction of enzyme replacement therapy has significantly improved the disease prognosis. However, the treatment is only effective if started early. Delayed diagnosis often causes irreversible organ damage and the development of other complications, many of which remain unrecognised or are diagnosed too late. Early diagnosis and appropriate treatment are therefore vital to prolong and enhance the quality of life for patients.

The core expert team of the Fabry Center at GH Slovenj Gradec ensures high-quality and comprehensive care for patients with Fabry disease.                                                                                                                                                                                                                                   

Head of Fabry Center and Nephrology Expert Bojan Vujkovac, MD, specialist of internal medicine
Cardiology Expert Martin Tretjak, MD, PhD, specialist of internal medicine
Neurology Expert Suzana Bricman, MD, specialist of neurology
Nurse Vesna Korat, RN
Nurse Anja Založnik, RN, MSc in Nursing
Nurse Sonja Pečolar, RN

 

Fabry Center is a national reference centre for the comprehensive care of adult patients with Fabry disease in Slovenia. The main areas of the centre’s activities are:

Fabry Disease Diagnostics

• Providing the most advanced diagnostic procedures in accordance with professional guidelines

• Collaborating with institutions in Slovenia and abroad to ensure all diagnostic procedures.

• Basic genetic counselling and family screening of affected members

Fabry Disease Treatment

• Delivering specific treatment with registered drugs available in Slovenia

• Individualising treatment for each patient based on their health status and needs

Comprehensive Patient Management

• Multidisciplinary approach

• Organising treatment at the centre, at local healthcare facilities or at home

• Regular monitoring of all patients (both on treatment and untreated)

• Digital support via the FabryCare application (for regular work and care coordination in the centre, as well as for patient engagement)

Education

• Training of healthcare professionals

• Organising professional events for physicians and nurses

• Active participation in domestic and international professional meetings

• Supporting and educating patients and their families

• Advising patients on healthy lifestyle and appropriate medication use

Research and Development

• Active participation in international research projects and registries

• Carrying out its own research programme

• Ensuring patient rights when participating in research

Disease Awareness

• Collaboration with the media

• Participation in campaigns and events dedicated to rare diseases

Cooperation with Patient Associations

• Working with the Slovenian Fabry Patients Association

• Working with patient associations abroad

A referral from a primary care physician or specialist is required to start initial health care at the Fabry Center.

Upon receipt of the referral the patient is scheduled for an appointment at the centre.

Once the patient is enrolled in our network all subsequent appointments are arranged in advance in agreement with the patient.

Appointments or changes to appointments are managed via email or telephone.

 

Contact for appointments and information:

Phone: +386 2 882 35 24 / +386 70 736 186

Email: [email protected]

 

Opening hours:

Monday – Friday: 6:30 AM – 2:30 PM

Office hours from Monday to Friday: 8:00 AM – 11:00 AM

 

Location: Building A, Internal Medicine Outpatient Clinic, Room No. 9

The Fabry Center is committed to early and expert diagnosis of Fabry disease, as timely and early diagnosis is crucial for successful treatment. We use the dried blood spot test for testing, which allows for the simultaneous analysis of enzyme activity, genetic mutations and determination of specific disease biomarkers. These data help to enable an immediate diagnosis.

Screening test analysis is conducted at a reference laboratory in Germany, where the initial interpretation of results is also performed. Further biochemical and genetic testing to confirm the diagnosis is carried out in specialised laboratories in Ljubljana and Graz.

Patients who belong to the specified high-risk groups (unexplained cardiomyopathy, undefined proteinuric nephropathy and stroke of an unknown aetiology in young individuals) are tested.

The most important factor is the consistent implementation of family screening among relatives of patients with known Fabry disease.

At the Fabry Center we strive for the continuous improvement of diagnostic procedures, and to educate healthcare professionals to ensure every patient receives a timely and accurate diagnosis.

The phenotypic heterogeneity of Fabry disease requires specialised centres based on a multidisciplinary team that includes various specialists and nurses with additional expertise and experience in this field. Patients differ not only in their physical manifestations, but also in their psychological responses, and therefore it is essential to provide counselling and support throughout the entire process of diagnosis, examination and treatment.

Nurses often establish a unique relationship with the patient and their family members, assisting them in coping with a chronic hereditary disease.

The role of the nurses at the Fabry Center at GH Slovenj Gradec is highly specific, as they operate as coordinators, organisers, researchers, educators, secretaries, logisticians, administrators and advisors.

The nurse is the first point of contact for the patient, coordinates their healthcare and communicates with other healthcare professionals. Nurses provide both emotional and physical support, which are crucial for the patient’s overall well-being.

The goal of the healthcare provided is to respect and consider the patient’s needs, values and culture, and involve them in the treatment process. It is vital to listen to the patient and establish empathy, which is best achieved by a nurse with a well-developed holistic approach. Only competent, respectful and empathetic care enables a trusting relationship and safe care.

The quality of care is measured by patient satisfaction, with a patient-centred approach being key to improving healthcare outcomes. Every healthcare service is an opportunity for human interaction and a therapeutic relationship between a patient and a nurse.

The nurses working at the Fabry Center ensure high-quality care and patient satisfaction through a holistic approach, effective communication, support and the promotion of active patient participation in the care process.

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Our vision and values guide us in providing comprehensive care for each individual patient. Our goal is to create an environment of trust, continuous improvement and maximum support for all patients affected by Fabry disease.

The values we consistently uphold at the Fabry Center are:

• Holistic Patient Care: Professional and comprehensive care with an individualised approach, emphasising early diagnosis and timely treatment.
• Compassion and Support: Understanding the challenges patients and their families face and providing empathetic support.
• Collaboration: Close cooperation with healthcare professionals, family physicians, healthcare institutions and stakeholders to ensure effective care and strengthen health policies related to rare diseases. Most importantly, we work closely with patients who play a vital role in the development and activities of the centre.
• Research and Education: Promoting research, education and professional development to continuously raise awareness of Fabry disease and improve treatment.
• Accessibility and Safety: Ensuring safe and easy access to all the necessary services and information for patients.
• Equality: Striving for fair treatment for all patients and their full inclusion in society.

The Fabry Center is committed to the development of the scientific and research activities that are crucial for advancing the diagnosis, treatment and understanding of Fabry disease.

We actively participate in clinical research and the introduction of new therapeutic medicines and approaches, while continuously monitoring and analysing long-term treatment outcomes.

We additionally promote multidisciplinary collaboration among specialists from various fields, enabling comprehensive patient care and the exchange of the latest scientific knowledge.

The Fabry Center regularly organises and participates in professional education and knowledge transfer, both within Slovenia and internationally.

Our goal is to contribute through research to improving patients´ quality of life, accelerating diagnosis and developing more effective and accessible medications. We help to shape a future where patients with Fabry disease receive the best possible care.

	Proceedings: International Fabry School 2025 Proceedings available at Fabry Center
	Book: Faces of Fabry Disease
	Proceedings: International Fabry School 2024 Proceedings available at Fabry Cente
	Book: Fabry heart

 

Prevalence of Fabry Disease and the Importance of Early Treatment

Comprehensive Care of Patients with Fabry Disease in Slovenia

Fabry Disease: Challenges in Diagnosis and Treatment

How to Maintain a Good Quality of Life with Fabry Disease?

Marija Pintarič | Living with Fabry Disease and the Appeal for Receiving Home Infusions

 

International Fabry School 2025 in Slovenj Gradec

The 17th International Fabry School took place at the Fabry Center at the General Hospital Slovenj Gradec from 11–13 September, 2025, bringing together numerous renowned experts from around the world. The three-day event offered an in-depth insight into the activities of the Fabry Center, and facilitated the exchange of knowledge through a series of expert lectures featuring distinguished foreign and Slovenian specialists.

Lectures, presentations, workshops and discussions were held at the Hugo Wolf Museum and at the Fabry Center itself. Experts presented various aspects of Fabry disease, ranging from diagnosis and treatment to the relationships among physicians, nurses and patients, supported by real clinical cases.

The Fabry Center has been operating at the GH Slovenj Gradec since 2004. The first Slovenian patient with Fabry disease was identified at this centre in 1991, followed shortly after by the diagnosis of his brothers. Treatment with enzyme replacement therapy has been provided in Slovenj Gradec since 2003. Over the years, the Fabry Center has become a reference multidisciplinary centre, where alongside medical care the social aspects of the disease are also addressed, as patients are often already traumatised after having received inadequate treatments.

The Fabry Center is an exemplary model of the provision of comprehensive care for a rare disease at the international level. The broader Slovenian healthcare community recognises the importance of the latest diagnostic and therapeutic methods that are being implemented at the centre, in order to improve the quality of life of patients.

 

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Public Statement on Fabry Disease

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Activities on the 20th Anniversary of the Fabry Center

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Rare Disease Day – February 28, 2025

Each year there is a Rare Disease Day on the last day of February. In 2025, General Hospital Slovenj Gradec organised a special booth to raise public awareness about rare diseases, the challenges faced by patients and their family members, and the importance of early diagnosis and access to treatment.

Rare diseases are those that affect a small number of people in a given population. A disease is considered rare in Europe if it affects five or fewer individuals per 10,000 inhabitants. There are approximately 7,000 known different rare diseases affecting 6-8% of the population, and in Slovenia this amounts to about 150,000 people.

As part of this special day, informational materials and consultations with health professional highlighting issues faced by patients with rare diseases were featured in the hospital lobby. The importance of early disease recognition, access to appropriate diagnostics and comprehensive patient support were emphasised. The activities of the Fabry Center were also presented as a model of good practice in rare disease management.

Key highlights of the event included:

• Raising public awareness about rare diseases and their impacts on patients' lives.
• Emphasising the importance of early diagnosis and access to treatment.
• Highlighting the significance of a holistic approach in managing patients with rare diseases.
• Promoting societal understanding and support.

We believe that events like this contribute to better understanding and acceptance of patients with rare diseases as well as wider accessibility to appropriate healthcare services.

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The Fabry Disease Treatment Center at the General Hospital Slovenj Gradec, led by Bojan Vujkovac, MD, specialist of internal medicine, is the only centre in Slovenia dedicated to the management of this rare, hereditary disease. The centre has received recognition both domestically and internationally for many years.

You are invited to view the related content!
https://www.pharmonia.si/tematske-priloge/fabryjeva-bolezen