Observational studyOrphanet journal of rare diseases2025
Patient journey to Fabry disease diagnosis in the United States: an observational retrospective analysis of two United States claims databases.
Observational study in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundFabry disease (FD; OMIM # 301500) is a rare, X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (GLA) gene. Deficiency or absence of alpha-galactosidase A (α-Gal A) enzyme activity leads to the accumulation of glycosphingolipids, specifically globotriaosylceramide (GL-3), in lysosomes leading to various symptoms and signs such as neuropathic pain, gastrointestinal manifestations, renal failure, hypertrophic cardiomyopathy and fibrosis, cardiac rhythm disturbances, heart failure, and stroke. This observational study aimed to describe the journey of patients to FD diagnosis (symptoms, comorbidities, related diagnoses, tests, procedures, and healthcare resource utilization) by assessing data from two US claims databases (Optum Clinformatics
resultsThe study population consisted of 201 patients from the Optum CDM database and 923 patients from the Komodo RD. The mean (SD) age of patients on the index date was 56.0 (20.0) years in the Optum CDM database and 40.5 (21.6) years in the Komodo RD. In the baseline (two years prior to first observed FD diagnosis or treatment) patients had a high prevalence of cardiovascular (72.6% Optum CDM, 56.4% Komodo RD), neurologic (64.2% Optum CDM, 59.3% Komodo RD), gastrointestinal (46.3% Optum CDM, 51.2% Komodo RD), and mental health (32.8% Optum CDM, 36.5% Komodo RD) clinical symptoms and comorbidities. Females showed a higher prevalence of mental health conditions compared to males across both databases. Neurologic and cardiovascular medications were the most commonly prescribed medication classes across both databases (neurologic: 61.2% in both cohorts; cardiovascular: 60.7% Optum CDM, 50.6% Komodo RD). In terms of provider specialty, a high proportion of patients represented in the Optum CDM cohort had claims from family & preventive medicine (73.1%), radiology (72.1%), and internal medicine (61.2%) during the 2 years prior to FD diagnosis. Per Komodo RD, patients had claims from general practitioners (87.4%), radiologists (63.4%), emergency medicine specialists (57.0%) and anesthesiologists (25.8%).
conclusionsThis study assessed the journey of patients with FD to diagnosis based on two large US claims databases, Optum CDM and Komodo RD. The results highlighted a significant burden of cardiovascular, neurologic, and gastrointestinal symptoms and comorbidities, along with associated medication use, in the two years prior to diagnosis. Identifying these comorbidity profiles in patients with FD could shorten time to diagnosis and provide improved disease management.
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