Despite advances in medical science and technology, individuals living with rare diseases continue to face a prolonged, exhausting, and emotionally demanding diagnostic journey. During this period, patients are often left without answers, structured support, or access to relevant information. Rare liver diseases, which are the focus of the Croatian Rare Liver Foundation’s work, often progress silently without warning signs or symptoms until they reach a critical phase. This silent progression makes early detection absolutely crucial.
The diagnostic gap does not arise solely from the clinical complexity of rare diseases but is often the result of insufficient or inadequate communication within the healthcare system. High-quality healthcare communication, based on clarity, timeliness, empathy, and mutual trust is key to timely disease recognition and to guiding patients towards appropriate care.
Early Diagnosis of Rare Liver Diseases
Early diagnosis of rare liver diseases relies on timely recognition of non-specific symptoms, liver function tests, non-invasive imaging techniques, and targeted immunological and genetic evaluations. Given the often-insidious course of these diseases and the absence of clear clinical signs in the early stages, it is essential that healthcare professionals maintain a high index of suspicion for rare liver diseases in patients presenting with unexplained liver function abnormalities, chronic fatigue, jaundice, or other non-specific symptoms.
Timely diagnosis enables the initiation of treatment while liver function is still preserved, significantly reducing the risk of disease progression to fibrosis, cirrhosis and the need for transplantation. A multidisciplinary approach involving hepatologists, immunologists and geneticists increases the success rate of early disease recognition. In the context of proactive healthcare, early diagnosis of rare liver diseases is vital for preserving healthy years of life and optimizing healthcare resources.
An early diagnosis is not only a matter of timely treatment. It can be the decisive factor between maintaining stable health and needing a liver transplant. Many rare liver diseases, such as primary sclerosing cholangitis, autoimmune hepatitis or Wilson’s disease, develop without clear symptoms until significant liver damage occurs. Late diagnosis often results in liver conditions that can only be managed through transplantation. In such cases, a patient’s survival depends on organ availability, the complexity of surgery and lifelong immunosuppressive therapy.
What could have been prevented or delayed with early detection later becomes an extraordinary and complex national resource issue: encompassing treatment costs, transplantation teams, long-term care and the quality of life of transplant recipients.
A patient who receives a diagnosis and appropriate care in time not only reduces the burden on the healthcare system but remains an active, contributing member of the workforce and society.
National Policies and Proactive Healthcare
The shift towards a proactive, integrative and participatory healthcare model, one that intervenes before consequences become irreversible, also requires the adoption of appropriate national policies, such as the National Programme for Rare Diseases. For patients with rare liver diseases, and for all individuals living with rare diseases in Croatia, the adoption of this Programme is not merely a formality; it is a matter of visibility, rights, and concrete solutions.
The National Programme would lay the foundation for early diagnosis, systematic monitoring, better cross-sector collaboration, and more accessible care. Without a strategic framework that recognizes rare diseases as a public health priority, systemic change remains unlikely. Without it, rare diseases continue to be marginalized and each lost month represents a lost opportunity for healthier years of life.
The Role of Patient Organizations in Proactive Healthcare and Early Diagnosis
Patient organizations in the field of rare diseases are critical stakeholders in building modern healthcare systems based on proactive strategies and the extension of healthy life years.
Their role includes public and professional education, advocacy for patients’ rights to timely diagnosis and accessible treatment, provision of emotional and psychosocial support, and participation in research and development initiatives.
In the context of rare diseases, where diagnostic and therapeutic challenges are particularly pronounced, patient organizations help shorten the diagnostic journey, enhance communication within the healthcare system, and actively participate in the creation of policies that truly address the needs of affected individuals. Their involvement at every stage of healthcare planning and implementation is essential for achieving more effective, equitable, and sustainable healthcare solutions for this especially vulnerable population.
More Healthy Years of Life for All
The experiences of patients with rare liver diseases are neither isolated nor marginal. They mirror the areas where we must and can make progress: towards timely diagnosis, towards inclusive and empathetic healthcare, and towards long-term investments in health as a vital national resource.
If we truly want a new face of health, it must be the face of every individual for whom timely communication, early diagnosis, and the right treatment path have enabled the most valuable thing, which is more healthy years of life.
Text written by: Antonija Šimunković, CEO of the Croatian Rare Liver Foundation
