Wilson’s disease advocacy toolkit

People living with Wilson’s disease must have access to a wide range of healthcare professionals, but many lack this access. The complexity and mix of symptoms make it necessary for many people living with Wilson’s disease to be cared for by a number of different healthcare professionals. Optimal care for Wilson’s disease requires access to a broad range of specialists (known as multidisciplinary care). This may include hepatologists, neurologists, psychiatrists, nutritionists, psychologists, speech therapists and physiotherapists.^6-11 People with Wilson’s disease may also benefit from peer support to help them manage their condition (see more information on peer support). Best-practice, high-quality multidisciplinary care is being delivered by some specialist centres, but these centres are not established in all countries.¹² Clinical guidelines are referred to by healthcare professionals to guide diagnosis, treatment and ongoing care. Many of the current Wilson’s disease guidelines^{13 14} are comprehensive regarding caring for liver symptoms, but limited when it comes to managing brain-related symptoms,¹⁵ and this may be contributing to gaps in the availability of multidisciplinary care. It should be noted that the 2022 update to Wilson’s disease guidelines by the American Association for the Study of Liver Diseases (AASLD) provides guidance on the management of neurological and psychiatric symptoms.¹⁶

Policymakers in countries where there are gaps in care should ensure that multidisciplinary care is recommended in clinical guidelines. Incorporating the need for multidisciplinary care into clinical guidelines for the treatment of Wilson’s disease may improve the availability of the approach and contribute to better health outcomes. The need for a multidisciplinary approach is outlined in AASLD guidelines for Wilson’s disease¹⁶ and the UK national guidelines for Wilson’s disease published by the British Association for the Study of the Liver’s Rare Diseases Special Interest Group, also published in 2022.¹⁷ This could set a precedent for all future Wilson’s disease guidelines.

A comprehensive national rare disease strategy provides a framework to support stakeholders in driving the changes needed for more equitable access to care. But not all countries have a strategy in place, and many strategies have expired. In the European Union, for example, as of April 2022, two countries were still without a national rare disease plan, and seven had plans that had expired.¹⁷ Countries that have a national strategy for rare diseases are more likely to have policies that cover the whole pathway, from diagnosis to treatment and long-term management.¹⁶ Incorporating Wilson’s disease into these types of strategies may therefore bring about similarly effective polices for the condition.

Inclusion of the needs of people living with Wilson’s disease in national rare disease strategies would be an important step towards improving health outcomes for these individuals. People living with Wilson’s disease continue to face long diagnostic delays and limited or unequal access to high-quality care and treatment.^{18 19} A national strategy that sought to address issues such as these could act as a vital tool to coordinate and guide national efforts to address gaps in service provision and improve health outcomes.

National-level advocacy aimed at policymakers is central to increasing the representation of the needs of people living with Wilson’s disease in national rare disease strategies. Communicating people’s needs to policymakers through persuasive, evidence-based campaigns can help raise the profile of Wilson’s disease and drive policy change.

There are important gaps in the available data on Wilson’s disease. The lack of a robust evidence base on Wilson’s disease means that clinical decision-making is directed by guidelines that are largely based on expert opinion rather than more rigorous evidence.²⁰ Given how rare Wilson’s disease is, data should be collected by and shared between countries to ensure there is a sufficient amount of data to allow for robust evidence. A full understanding of Wilson’s disease prevalence, and the services available to people, would allow us to more accurately identify gaps in care and support the development of evidence-based guidelines.

Health system leaders must do more to ensure the comprehensive and coordinated collection of data on Wilson’s disease. Policymakers and decision-makers must do more to support the development, long-term funding and harmonisation of population-based registries for rare diseases, such as Wilson’s disease, that are available to everyone involved in rare diseases. Registries are a key component of the data collection ecosystem, gathering information on aspects such as prevalence, disease stage, diagnosis, treatment and socioeconomic features, and how these may change over time or differ by region.^{23 24} Having an understanding of these factors can improve rates of diagnosis and timely access to treatment. However, national Wilson’s disease registries have only been established in a limited number of countries in Europe – such as Poland, for example²⁵ – and there are no comprehensive international registries currently active.²⁶ Experts have also raised concerns about the variable methodologies used to guide data collection practices in Wilson’s disease registries, which can impact the data quality and limit cross-national coordination.

Despite the risks associated with stopping Wilson’s disease treatment, rates of adherence to treatment remain worryingly low, with some people particularly at risk. Wilson’s disease requires lifelong treatment to avoid serious complications and premature death, but 20­­–45% of people do not follow their treatment regimen for an extended period of time.^24-27 The reasons for non-adherence vary among individuals and by treatment type, but they include treatment side effects, inconvenient dosing, cost, and forgetting to take the medication.^{12 28-30} People with psychiatric symptoms and asymptomatic people have been identified as being at particular risk, in addition to people going through major life changes such as adolescence, pregnancy, menopause/andropause and ageing.^{3 6 25} People living with Wilson’s disease who do not continue to take their medication are at greater risk of the disease progressing and, ultimately, death.²⁹ Disease progression leading to the worsening of brain-related symptoms can also limit people’s ability to work and carry out everyday activities.³¹

Health system leaders must consider including closer monitoring of at-risk populations in clinical guidelines to improve the low levels of treatment adherence. There is agreement among healthcare professionals involved in Wilson’s disease that some groups of people are more likely to stop taking their medication than others, but current guidelines do not lay out clear recommendations for the closer monitoring of treatment adherence.^{3 6 28 34} Specific attention should be paid to people for whom non-adherence is suspected and who may benefit from more frequent monitoring^{11 34} – for example, young people transitioning from child to adult services, as the risks associated with this transition are not currently addressed in either paediatric or adult guidelines.^{13 14}