Multisystemic Fabry disease signs and symptoms can be nonspecific and may be misdiagnosed or attributed to other chronic health conditions. Recent articles report that the time from first symptom to diagnosis in Fabry disease can be greater than 15 years for both males and females. In this validation study, initial presenting Fabry symptoms captured from medical record review, published data and patient or caregiver recall will be analyzed via ThinkGenetic SymptomMatcher (SM), a web-based, patient-friendly algorithm that aims to reduce the time to diagnosis by identifying possible genetic disorders that could be considered for testing by a healthcare professional. The focus of symptom abstracting is to identify the key descriptive terms in lay language used by patients/caregivers as they would type into an internet browser. Additional data collected will include current age, gender and at what age symptoms occurred. This collected data will be used to test the validity of SymptomMatcher in helping reduce time to diagnosis for patients with Fabry disease.
|Event:||2018 - WORLDSymposium™|
|Publication:||Molecular Genetics and Metabolism|
|Author(s):||Morgan Simmons, MMSc, Dawn Jacob Laney, MS, CGC, CCRC, Carol Ogg, BS, Taylor Mitchell|
|Affiliation(s):||Emory University School of Medicine, Grady Memorial Hospital, University of Georgia College of Pharmacy.|