ID-5184 Wonca Abstracts supplement A-K 13-10-23 - Flipbook - Page 260
WONCA 2023 Supplement 1: WONCA 2023 abstracts (A–K)
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Experience of diagnosing rare disease in general practice:
An example of Factor X deficit
Dr Irina Halbostad
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Namsos Helsestasjon
For some conditions, patients describe years of exhausting ‘diagnostic odyssey’. At the same
time, general practitioners (GPs) face challenges navigating high volumes of patients with complex
conditions and multiple comorbidities. Reflecting on the process and learnings from diagnosing
rare diseases (RDs) in general practice can help to navigate these challenges. There are more than
7000 RDs worldwide. The true prevalence of RDs is unknown and an estimated 6% of the European
population is affected by a rare disease. Many of those are associated with severe chronic disabilities,
but many patients with milder findings presenting at later ages may still be un- or misdiagnosed. In this
case a female patient in her 40s was referred to hospital in mid-2016 with acute dizziness and minimal
facial asymmetry. On initial laboratory investigations, the only abnormality was a slightly increased PTINR 1.3 (normal 0–1.1).
No further investigations were advised by the haematology specialist at the time, but the patient
inquired about retaking some test to focus on bleeding disorders in the spring of 2017. Additional tests
showed a low P-coagulation factor X activity of 28 IU/dL (N 77–150) and a diagnosis of heterozygote
coagulation factor X deficit in mild form was established by May 2017. The patient regarded her
symptoms (menorrhagia, iron deficit, spontaneous gum bleeding and prolonged bleeding from small
injuries) as normal and managed these throughout life. From the patient’s perspective, the value of
the correct diagnosis included not only the explanation of her symptoms, but also the possibility for
medical treatment. Diagnosing of RDs in general practice is challenging and requires sharp attention
to the mild and vague symptoms, following up the abnormal results that lack explanation and general
awareness for RDs.
Key words
congenital factor X deficit, general practice, rare diseases, primary care, patient experience.
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