The document was developed on the principles of evidence-based medicine, taking into account modern international standards, in particular the clinical recommendations of the European Association for the Study of the Liver (EASL, 2024).
Information and methodological support and coordination of the development were provided by specialists of the Department of Standards in the Field of Healthcare of the Center.
Wilson's disease (hepatocerebral dystrophy) is a rare genetic disease caused by a mutation of the ATP7B gene, which leads to dangerous accumulation of copper in the liver, brain, eyes and other organs.
According to the NHSU, at the beginning of 2026 about 700 patients with copper metabolism disorders were registered in Ukraine, of which more than 300 cases were detected for the first time during the last three years.
Due to high clinical heterogeneity, the disease is often diagnosed at late stages – during liver cirrhosis or with pronounced neurological disorders.
Why is the new protocol important?
- introduces unified approaches to early detection, diagnosis, treatment and rehabilitation of patients with this severe orphan disease;
- regulates active detection of the disease among risk groups: first-degree relatives of patients, as well as persons with hepatic or neurological pathology of unknown origin, are subject to mandatory screening;
- describes in detail the physician's actions at the primary and specialized levels, provides clear criteria and stages of treatment of patients depending on the localization of the lesion, as well as in cases where liver transplantation is necessary;
- contains recommendations on material and resource provision required by healthcare facilities when developing local protocols, as well as indicators of the quality of medical care.
The new treatment protocol is not merely a medical algorithm, but an opportunity for real improvement in the quality and duration of life of people with Wilson's disease. The implementation of standardized approaches will allow:
- detecting the disease at early, pre-symptomatic stages
- timely prescribing pathogenetic therapy to remove excess copper
- preventing irreversible damage to the nervous system and internal organs
- significantly reducing the level of disability of patients and giving them the opportunity to live a full life.
Thanks to the clear actions of primary care physicians and specialized specialists, Ukrainian patients with this rare diagnosis receive significantly more chances for stable remission, preservation of working capacity and effective health support.
For the full text of the clinical protocol, see the Register of Medical Technological Documents of the Center at the link https://www.dec.gov.ua/mtd/hvoroba-vilsona/
