Abstract

Aims: Lysosomal storage diseases (LSD) are a diverse group of rare inherited metabolic disorders which frequently go undiagnosed for extended periods due to their non-specific and overlapping clinical features. Raising awareness among healthcare professionals is crucial for facilitating early diagnosis and improving outcomes. This study aimed to evaluate the awareness and knowledge levels of physicians regarding five LSD: Gaucher, Fabry disease, mucopolysaccharidoses, Pompe disease and Niemann–Pick types A/B.
Methods: A descriptive cross-sectional survey was conducted among 106 physicians (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 considered themselves to have limited knowledge about LSD. When the pediatric and internal medicine groups were compared, pediatric specialists generally exhibited higher awareness levels than internal medicine specialists. This difference was found to be 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% identified genetic testing as accurate, while 38% and 58.1% indicated roles for bone marrow aspiration and liver biopsy, respectively, in diagnosis.. A vast majority of physicians (99%) emphasized the need for increased training in this field.
Conclusion: Our study demonstrates that physicians working in a tertiary training hospital have insufficient awareness of LDH. Therefore, strengthening educational programs for physicians is essential to enhance awareness and improve early diagnosis of the disease.

Key words: Lysosomal storage diseases, awareness, early diagnosis