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Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.

Authors :
Giacomarra, Miriam
Colomba, Paolo
Francofonte, Daniele
Zora, Marcomaria
Caocci, Giovanni
Diomede, Daniela
Giuffrida, Gaetano
Fiori, Laura
Montanari, Chiara
Sapuppo, Annamaria
Scortechini, Anna Rita
Vitturi, Nicola
Duro, Giovanni
Zizzo, Carmela
Source :
Journal of Clinical Medicine; Mar2024, Vol. 13 Issue 5, p1487, 12p
Publication Year :
2024

Abstract

Background: Gaucher disease is a lysosomal storage disorder caused by functional glucocerebrosidase enzyme deficiency. Hepatosplenomegaly and hematological complications are found in both Gaucher disease and Acid Sphingomyelinase Deficiency, which is caused by acid sphingomyelinase dysfunction. The possible overlap in clinical presentation can cause diagnostic errors in differential diagnosis. For this reason, in patients with an initial clinical suspicion of Gaucher disease, we aimed to carry out a parallel screening of acid sphingomyelinase and glucocerebrosidase. Methods: Peripheral blood samples of 627 patients were collected, and enzymatic activity analysis was performed on both glucocerebrosidase and acid sphingomyelinase. The specific gene was studied in samples with null or reduced enzymatic activity. Specific molecular biomarkers helped to achieve the correct diagnosis. Results: In 98.7% of patients, normal values of glucocerebrosidase activity excluded Gaucher disease. In 8 of 627 patients (1.3%), the glucocerebrosidase enzymatic activity assay was below the normal range, so genetic GBA1 analysis confirmed the enzymatic defect. Three patients (0.5%) had normal glucocerebrosidase activity, so they were not affected by Gaucher disease, and showed decreased acid sphingomyelinase activity. SMPD1 gene mutations responsible for Acid Sphingomyelinase Deficiency were found. The levels of specific biomarkers found in these patients further strengthened the genetic data. Conclusions: Our results suggest that in the presence of typical signs and symptoms of Gaucher disease, Acid Sphingomyelinase Deficiency should be considered. For this reason, the presence of hepatosplenomegaly, thrombocytopenia, leukocytopenia, and anemia should alert clinicians to analyze both enzymes by a combined screening. Today, enzyme replacement therapy is available for the treatment of both pathologies; therefore, prompt diagnosis is essential for patients to start accurate treatment and to avoid diagnostic delay. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
20770383
Volume :
13
Issue :
5
Database :
Complementary Index
Journal :
Journal of Clinical Medicine
Publication Type :
Academic Journal
Accession number :
175991439
Full Text :
https://doi.org/10.3390/jcm13051487