Rare · Published 2025-01-01 · DOI 10.1016/j.rare.2025.100113
Background: Early diagnosis of Fabry disease (FD) is crucial to initiate treatment and mitigate disease progression but is hindered by the rarity and non-specific symptoms of disease. This study surveyed 20 index patients to explore their journey to diagnosis and sought to identify knowledge gaps and medical education needs for UK primary care physicians (PCPs) and specialists through interviews and meetings with Fabry specialist nurses and expert clinicians. Results: Patients’ (13 females, 7 males) presented with symptoms at the median age of 13.0 years, with a median diagnosis delay of 10.1 years in index patients diagnosed between 2013 and 2023. Some had symptoms in childhood but were referred to a specialist after their 20 s; 45 % (9) were misdiagnosed (e.g. irritable bowel syndrome, rheumatoid arthritis, fibromyalgia). Neuropathic pain was the most common initial symptom. Patients consulted multiple specialists before a diagnosis; 55 % (11) of cases were identified by cardiologists, primarily following cardiac events, and 20 % (4) by ophthalmologists. Gaps in the diagnostic pathway included lack of awareness about FD symptoms by primary care practitioners and specialists, low referral rates, incorrect referrals, and misdiagnosis. Experts emphasised educating on key principles: FD’s treatability, the importance of early referral, consideration of FD in all patients regardless of age, sex, number of symptoms, or family history, and education with a holistic approach to patients’ symptoms. Conclusion: A multidisciplinary medical education programme is required to boost disease awareness and improve diagnosis and, subsequently, treatment and outcomes in FD.
Abstract from DOAJ. Public domain (CC0 1.0).
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