Accounting for one in ten patients needing dialysis or a kidney transplantation at a cost of €1.5 billion annually in the EU – Autosomal dominant polycystic kidney disease (ADPKD) is one of Europe's leading causes of kidney failure.
ADPKD causes fluid-filled cysts to grow in the kidneys, causing enlargement, pain, infections and abdominal distention.
Most patients also have liver cysts and high blood pressure, with many at risk of bleeding in the brain and other complications.
"Treatments to prevent or slow other forms of chronic kidney disease do not work with ADPKD. There are currently no approved medical treatments to delay the disease's progression"
This is a chronic, progressive, and incurable inherited disease with a profound and often unrecognised impact on patients and their families and represents many of the healthcare challenges of our times such as rising healthcare costs, an ageing society and inequalities in access to healthcare.
The European commission is quite rightly acting on the main chronic diseases, such as heart disease, cancer and diabetes.
We think that chronic kidney disease should also be included in such actions, as its growing health impact is well recognised and linked to cardiovascular disease and diabetes.
However, ADPKD justifies the need for specific measures that take into account its genetic basis, effect on multiple family members, relatively low prevalence compared with the major diseases already mentioned, and its multi-faceted and variable life-long course.
Treatments to prevent or slow other forms of chronic kidney disease do not work with ADPKD. There are currently no approved medical treatments to delay the disease's progression, nor are there any European-wide recommendations or common pathways to guide care.
Although national healthcare policies are the competence of EU member states, the commission can add value in improving ADPKD care by sharing best practice and supporting both research and the creation of centres of excellence.
A European-wide network of ADPKD reference centres would generate more research and education, and establish harmonised, integrated, patient-centred care pathways.
The commission is presently supporting the establishment of European Reference Networks (ERN) for rare diseases, as originally envisaged by the directive on patient's rights in cross border healthcare.
How different diseases should be grouped within such networks remains an open question but in our view, ADPKD merits the establishment of a specific ERN, given the number of affected patients and their needs.
The commission should also support research into disease-modifying treatments to extend and improve the lives of patients with this disease and to reduce the impact of the condition on healthcare systems.
"Patient empowerment should always be at the heart of European health policymaking"
Advances have been made in our understanding of the disease process, but more support under European-level research frameworks is key to translating these into new treatments.
Of course, the commission cannot prescribe how patients are treated. However, in accordance with the joint action on chronic diseases, it could provide a platform for sharing good practice.
This would help to address variations and inequities in access to care. Suitable aspects include genetic testing for the DNA mutations that cause ADPKD, pathways to promote the referral of patients to specialist doctors, and multidisciplinary models for managing specific disease types.
For example, health services across Europe could benefit from an ADPKD pain management model recently implemented in the Netherlands. International variations in the provision of dialysis and transplantation for ADPKD also deserve attention.
Patient empowerment should always be at the heart of European health policymaking. Patient organisations need to be fully enabled to participate as partners within a framework that supports collaboration with healthcare providers and policymakers.
If we get it right, ADPKD could set the standard for policy development in other complex genetic conditions that together affect hundreds of thousands of people across Europe.