What challenges for the management of rare diseases? Current situation in Europe and Belgium

Nathalie Lannoy (1), Marie-Françoise Vincent (2), Fabienne Lohest (2), Cédric Hermans (1) Published in the journal : February 2019 Category : Rare Diseases

Summary :

In Europe, a disease is defined as rare when its prevalence is less than 1 in 2,000. The management of patients with rare diseases refers to the complex and heterogeneous status of some 6,000 to 8,000 diseases, 80% of which are of genetic origin. Rare diseases mostly affect children. Due to the large phenotypic heterogeneity, rarity and unusual nature of rare diseases, the affected patients regularly encounter a lack of knowledge regarding their disease, which is most often associated with diagnostic wavering until an accurate diagnosis is made and lack of treatment.

In order to draw attention on and address this issue, the European Commission has been developing initiatives aiming to ensure the development of concrete measures for the patients and their families across its member states for more than two decades.

Responding to this call, Belgium is committed to improving the management of rare diseases and has thus developed a national plan. Multidisciplinary diagnostic structures were created and supported, partnerships with European reference networks were established, and registers were set up in order to centrally and uniformly collect patient data. This article offers an overview of the characteristics of rare diseases, as well as an inventory of existing measures in both Europe and Belgium.

Key words

Rare disease, Orphanet, Belgian plan for rare diseases, Radiorg, Human Genetics Center

What is already known about the topic?

Thirty millions of patients are affected by a rare disease in Europe and 600,000 in Belgium. However, as there are 6,000 to 8,000 different rare diseases, only a limited number of health care providers can acquire enough expertise to meet the specific needs of these patients. Thus, the European Commission and Belgium have set up structures and networks in order to provide comprehensive care for all these patients, regardless of their disease.

What does this article bring up for us?

This article aims to address the complexity of the management of rare diseases and to present European and Belgian initiatives aimed at improving the support of these patients and their families.