Managing Rare Disease for Practicing Primary Care Physicians

https://doi.org/10.22146/rpcpe.65031

Cipta Mahendra(1*)

(1) Atma Jaya Catholic University of Indonesia
(*) Corresponding Author

Abstract


Primary care physicians (PCPs) are trained to provide care for a wide scope of medical conditions within their patient population. They are supposed to be the very first healthcare provider the patient should visit when having an illness. Accordingly, it is customary for PCPs to encounter many types of patient cases in their practice. In addition to common diseases, some patients may present with symptoms of a rare disease (RD).

Unfortunately, PCPs often lack knowledge to promptly detect and manage the patients with such disease. A research from Ireland reveals that only a third of PCPs were able to establish a diagnosis for RD and refer the patient to the appropriate specialist1. In Spain, more than half the PCPs were deemed fair or poor in knowledge of RD2. Similar result was also obtained from an expert survey in Belgium, stating that the basic RD knowledge of most PCPs in the country is low3. It is therefore justifiable for Evans to say that many patients with RD are un- or misdiagnosed4 and thus, it may take years to finally get a correct diagnosis3. In Indonesia, there has been no published local- or nationwide research surveying the PCP’s knowledge concerning presentations of RD.

 


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References

  1. Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O’Sullivan G, et al. The role of primary care in management of rare diseases in Ireland. Irish J Med Sci. 2020;189:771-6.
  2. Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, Marzo-Sola ME, Ramón-Trapero JL, Gil-de-Gómez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15(1):1-7.
  3. Vandeborne L, van Overbeeke E, Dooms M, Beleyr BD, Huys I. Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14(1): 1-11.
  4. Evans WRH, Rafi I. Rare diseases in general practice: recognizing the zebras among the horses. Br J Gen Pract. 2016;66(652):550-1.
  5. Jo A, Larson S, Carek P, Peabody MR, Peterson LE, Mainous AG. Prevalence and practice for rare diseases in primary care: a national cross-sectional study in the USA. BMJ Open. 2019;9(4):e027248.
  6. Litzkendorf S, Babac A, Rosenfeldt D, Schauer F, Hartz T, Luhrs V, et al. Informational needs of people with rare disease–what information do patients and their relatives require?. J Rare Dis Diagn Ther. 2016;2(2):40.
  7. von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758-73.



DOI: https://doi.org/10.22146/rpcpe.65031

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