Portugal codes 155 new rare diseases in 2025, issuing record 1,803 rare‑disease cards

Portugal’s Directorate‑General of Health reported that in 2025 it coded 155 new rare diseases, 38 more than in 2024, bringing the total catalogue to 594 distinct pathologies. The same year saw the issuance of 1,803 Cartões da Pessoa com Doença Rara (CPDR), a 13.2 % increase over 2024.

The majority of card requests came from seven Unidades Locais de Saúde (Local Health Units) and three Institutos Portugueses de Oncologia, with the Coimbra health unit accounting for 32.3 % of all cards. The report highlights the CPDR’s role in improving continuity of care, rapid access to clinical information, and more personalized treatment for patients with rare diseases. Orphanet, the European reference portal, lists many of the most requested conditions—such as Sickle‑Cell Anemia and Retinitis Pigmentosa—among the most prevalent rare diseases in Europe. Factors influencing the rise in card issuance include heightened awareness of GDPR consent requirements and ongoing European projects to improve rare‑disease coding.