Gewone zorg voor de ongewone patiënt: Zeldzame aandoeningen in de huisartsenpraktijk

Translated title of the contribution: Ordinary care for the extraordinary patient: Rare diseases in the general practice

Ruth Van Nispen*, Mieke Rijken

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Purpose: To describe health problems and quality of life experienced by people with uncommon chronic diseases, how they are treated by their GP and what are their expectations. Methods: In a nationwide representative sample of non-institutionalised chronic disease patients (recruited in 56 general practices) in the Netherlands, 206 patients with rare chronic diseases were traced and compared to 2,303 patients with more prevalent chronic diseases. Results: Results showed that many people with rare diseases experienced very bad quality of life. Sexual problems, mental problems, anxiety and worries about the disease were common. They were generally satisfied with the care delivered by their GPs and they felt that they were taken seriously. However, a relatively large proportion of the rare disease group found their GPs not specifically qualified to treat their disease. Discussion: Curative treatment is often unavailable for people with rare chronic diseases. However care needs in daily life are not so different (though sometimes more problematic) from those of people with more prevalent chronic diseases. The GP should therefore not give up his role as caretaker or as co-ordinator of care. If the patient needs some specific expertise, then the GP should refer them to specialised physical or psychological care.

Translated title of the contributionOrdinary care for the extraordinary patient: Rare diseases in the general practice
Original languageDutch
Pages (from-to)349-355
Number of pages7
JournalHuisarts en Wetenschap
Issue number8
Publication statusPublished - 1 Jul 2007

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