Rare diseases in general practice: recognising the zebras among the horses

Evans, Will; Rafi, Imran

doi:10.3399/bjgp16x687625

Cited by 60 publications

(65 citation statements)

References 5 publications

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“…Zurynsky's study [16] also found that about 40% of pediatricians had difficulty accessing treatments. It is unrealistic to consider that a doctor can know all the rare diseases described at this moment, but patients described the "diagnostic odyssey" to refer to that long process, often decades, that takes them from hospital to hospital, with misdiagnoses and inappropriate treatments [29]. Other countries have some experience with specific training in rare diseases.…”

Section: Discussionmentioning

confidence: 99%

Education and information needs for physicians about rare diseases in Spain

Ramalle-Gómara

Domínguez‐Garrido²,

Gómez-Eguílaz

et al. 2020

Orphanet J Rare Dis

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Background: Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be caused, in part, for unprepared clinicians in this field. The aim of this study was to report the training needs and the perceived shortcomings of Spanish physicians of the public health system in the diagnosis, treatment and monitoring of patients with rare diseases. Methods: We used a descriptive cross-sectional study through an "ad hoc" survey of 26 questions was completed by 132 primary care physicians and 37 specialists during April and May 2018. Results: Less than a third of the physicians had received training in rare disease during their undergraduate or postgraduate years, and for hospital professionals, they received more training in the postgraduate period. Conclusion: Primary care physicians and specialists showed low training level in rare diseases. An academical and continuous program on rare disease, as well as, multidisciplinary units and high quality practice guidelines are necessary to help to prevention and support clinical decisions and improve quality of care of patients and families.

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Section: Discussionmentioning

confidence: 99%

Education and information needs for physicians about rare diseases in Spain

Ramalle-Gómara

Domínguez‐Garrido²,

Gómez-Eguílaz

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…In primary care, ‘ don’t expect to see a Zebra, when you hear hoof beats ’. However, rheumatologists should be aware that it is not rare to have a rare disease and should recognise the zebras among the horses 4…”

mentioning

confidence: 99%

What rheumatologist should know about Fabry disease

et al. 2019

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“…Genomic testing will improve the likelihood of making a molecular and in some cases a clinical diagnosis, thereby avoiding protracted diagnostic journeys with huge emotional cost (the 'diagnostic odyssey'), and giving a greater understanding of underlying pathology, likely natural history, and responsiveness to various treatments. 5 Another important dimension is the familial element; relatives will access primary care for advice regarding risk and reproductive issues.…”

Section: Rare Diseasementioning

confidence: 99%