ArticleOrphanet journal of rare diseases2024
Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey.Orphanet journal of rare diseases · 2026Article
- Global perspectives on the burden and management of hypophosphataemic osteomalacia in adult patients: an International Osteoporosis Foundation (IOF) survey.Archives of osteoporosis · 2026Article
- Craniofacial fibrous dysplasia: a challenge for general dental practitioners.British dental journal · 2025Article
- Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.Orphanet journal of rare diseases · 2025Article
- Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia/McCune-Albright Syndrome.Calcified tissue international · 2025Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
backgroundReducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of NASA. FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity. The variable phenotype is likely to prolong the diagnostic journey for patients further.
aimTo describe the time from symptom onset to final diagnosis in individuals living with FDMAS.
methodsWe used the UK-based RUDY research database ( www.rudystudy.org ), where patients self-report their diagnosis of FD/MAS. Participants are invited to complete the diagnostic journey based on the EPIRARE criteria.
results51 individuals diagnosed with FD/MAS were included in this analysis. Among them, 70% were female, and the median age was 51.0 years (IQR 34.5-57.5]. 12 (35%) individuals reported McCune Albright Syndrome, 11 (21.6%) craniofacial and 11(21.6%) for each of poly- and mono-ostotic FD and 6 (11.8%) did not know their type of FD/MAS. Pain was the commonest first symptom (58.8%), and 47.1% received another diagnosis before the diagnosis of FD/MAS. The median time to final diagnosis from the first symptom was two years with a wide IQR (1,18) and range (0-59 years). Only 12 (23.5%) of individuals were diagnosed within 12 months of their first symptoms. The type of FD/MAS was not associated with the reported time to diagnosis. Significant independent predictors of longer time to final diagnosis included older current age, younger age at first symptom and diagnosis after 2010.
conclusionIndividuals with FDMAS have a variable time to diagnosis that can span decades. This study highlights the need for further research on how to improve diagnostic pathways within Orthopaedic and Ear, Nose and Throat (ENT)/Maxillofacial services. Our data provides a baseline to assess the impact of novel NHS diagnostic networks on reducing the diagnostic odyssey.
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