Portugal recognises over 150 rare diseases in year in which 1,803 rare disease cards issued – Portugal Resident

Portugal recognised 155 different rare diseases for the first time in 2025 – the year in which 1,803 Rare Disease Cards were issued, 13.2% more than in 2024, covering a total of 594 conditions, according to the DGS (general health directorate).

As in 2024, the rare diseases for which the most cards were requested in 2025 were sickle cell anemia and retinitis pigmentosa, according to the DGS 2025 Annual Report on the implementation of the Rare Disease Card (CPDR).

These conditions are also among the most prevalent in Europe, according to the 2025 list published annually by Orphanet – the European reference portal for information on rare diseases and medicines.

The report highlights the role of the CPDR in improving continuity of care, ensuring rapid access to relevant clinical information in emergency situations, and promoting a more personalised and safe response for people with rare diseases.

In 2025, 155 new rare diseases were recognised, 38 more than in 2024, and 210 additional cards were added, bringing the total from 1,593 to 1,803. 

The increase may be linked to the ongoing promotion of the tool amongst healthcare professionals, as part of various European projects relating to rare diseases and their ORPHA coding.

The DGS notes that 2017 was an exception, as the possibility of requesting the CPDR was extended to all public hospitals, with each institution being responsible for its promotion and implementation.

However, the annual number of cards issued may be influenced by various factors, such as the fact that the diagnosis of a rare disease is largely “a complex and lengthy process” and is therefore often carried out only at Reference Centres.

Another factor highlighted is “greater awareness” of the General Data Protection Regulation, which may have affected the number of cards issued, as this process requires written consent.

The cards were issued in 2025 by 34 institutions across the country, with 77.3% being requested by seven Local Health Units (USLs) and the three Portuguese Institutes of Oncology (IPO), which form part of Reference Centres; for the DGS, this underlines «the strategic role of these institutions in the identification and clinical management of rare diseases».

The Coimbra Local Health Unit (ULS) requested 32.3% of the cards, followed by the São José Local Health Unit (15.8%), the Santo António Local Health Unit (11.9%), the Santa Maria Local Health Unit (8.9%), the São João Local Health Unit (6.1%), the Western Lisbon Local Health Unit (0.8%) and the Alto Ave Local Health Unit (0.2%). The Coimbra, Lisbon and Porto Institute of Oncology requested 0.6%, 0.4% and 0.3% of the cards, respectively.

The DGS emphasises that, “despite the predominance of Reference Centres in the issuance of CPDRs, the data underscore the importance of continuing to raise awareness amongst all medical specialities and hospital units regarding the existence and usefulness of this card, given the cross-cutting nature of rare diseases and the unpredictability of emergency situations in which access to clinical information can be crucial”.

Targets have been set for 2026 that the DGS considers important to achieve, such as facilitating the display of the CPDR in hospital information systems during triage in emergency situations and automating the updating of ORPHA codes based on the versions provided by Orphanet.

Other targets for this year include the integration, wherever possible, of demographic variables such as age and geographical location, enabling more granular and informed analyses; promoting the continuing professional development of healthcare professionals and participation in European initiatives, whilst ensuring that these activities fully comply with the General Data Protection Regulation and guarantee the confidentiality of clinical information.

“Achieving these goals will reinforce the value of the CPDR as a tool to support the provision of personalised care, promoting continuity of care and contributing to a more effective, equitable and person-centred response for people with rare diseases,” states the DGS.

Between 2014, when the CPDR was first issued in Portugal, and the end of 2025, 12,784 cards were issued, and 1,627 different rare diseases were identified.

The European definition of a rare disease is a condition with a prevalence of no more than 5 per 10,000 inhabitants.

Source: LUSA