Ezgi BURGAC, Merve Yoldas CELIK, Burcu KOSECI
Annals of Medical Research - 2026;33(7):326-331
Aim: Lysosomal storage diseases (LSD) are a diverse group of rare inherited metabolic disorders that frequently go undiagnosed for extended periods because of their non-specific, overlapping clinical features. Raising awareness among healthcare professionals is crucial for facilitating early diagnosis and improving outcomes. This study aimed to evaluate physicians' awareness of and knowledge about five LSDs: Gaucher disease, Fabry disease, mucopolysaccharidoses, Pompe disease, and Niemann-Pick types A/B. Materials and Methods: A descriptive cross-sectional survey was conducted among 106 physicians, including 56 pediatricians and 50 internal medicine specialists. A 17-item online questionnaire assessed participants' knowledge of LSD symptoms, diagnosis, and treatment. Results: 81.9% of the physicians participating in the study reported limited knowledge of LSD. When the pediatric and internal medicine groups were compared, pediatric specialists generally exhibited higher levels of awareness than their internal medicine counterparts. This difference was statistically significant for MPS and Gaucher disease (p=0.016 and p=0.012, respectively). Among the participants, only 25.7% recognized that LSD can occur at any age. 86.7% of respondents identified genetic testing as accurate, while 38% and 58.1% indicated roles for bone marrow aspiration and liver biopsy, respectively, in diagnosis. The vast majority of physicians (99%) emphasized the need for increased training in this field. Conclusion: Our study demonstrates that physicians working at a tertiary training hospital lack sufficient awareness of LSD. Therefore, strengthening educational programs for physicians is essential to enhance awareness and improve early diagnosis of the disease.
