TY  - JOUR
T1  - Systematic Diagnosis of Lysosomal Storage Diseases in Patients with Hepatosplenomegaly
A1  - Martin Lange
A1  - Nicoleta Corcodel
A1  - Falk Schwendicke
JF  - Bulletin of Pioneering Researches of Medical and Clinical Science
JO  - Bull Pioneer Res Med Clin Sci
SN  - 3006-2659
Y1  - 2024
VL  - 4
IS  - 1
DO  - 10.51847/iSa3bEAUrx
SP  - 66
EP  - 80
N2  - The clinical detection of hepatomegaly and splenomegaly—abnormal enlargement of the liver and spleen, respectively—requires a comprehensive evaluation, as numerous underlying conditions may be responsible, including metabolic, congestive, neoplastic, infectious, toxic, or inflammatory etiologies. Within metabolic disorders, lysosomal storage diseases (LSDs) are a rare and ultra-rare group, collectively affecting approximately 1 in 5000 live births. These disorders arise from genetic mutations impacting lysosomal enzymes, membrane proteins, or transporters, causing intracellular accumulation of metabolites and subsequent organ dysfunction. Advances in early diagnosis and targeted therapies have improved survival and quality of life for many affected individuals. Consequently, LSDs should be considered in patients presenting with hepatosplenomegaly across all age groups. This review outlines the diagnostic evaluation of hepatosplenomegaly with particular focus on LSDs, highlighting clues from patient history, physical examination, laboratory findings, and imaging. Molecular testing, preferably over biopsy, is emphasized, with enzymatic analysis recommended when possible.
UR  - https://bprmcs.com/article/systematic-diagnosis-of-lysosomal-storage-diseases-in-patients-with-hepatosplenomegaly-0fxkfuxfs9rihv6
ER  -