Diagnostic journey for individuals with fibrous dysplasia / McCune albright syndrome (FD/MAS).

ABSTRACT:

Background

Reducing 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.

Aim

To describe the time from symptom onset to final diagnosis in individuals living with FDMAS.

Methods

We 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.

SUBMITTER: Song K 

PROVIDER: S-EPMC10851567 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature