Highlights
- •Gaucher disease type 1(GD1) and acid sphingomyelinase deficiency (ASMD) overlap for several signs or symptoms.
- •Splenomegaly is present in approximately 90% of the patients in both conditions.
- •Both diseases are underdiagnosed, especially ASMD.
- •We provide an algorithm for both conditions to support physicians, including primary care providers, internists, and specialists, to suspect and differentiate GD1 and ASMD.
Abstract
Lysosomal storage disorders are a group of inborn errors of metabolism due to defects
in proteins crucial for lysosomal function. Gaucher disease is the most common autosomal
recessive lysosomal storage disorder due to mutations in the GBA1 gene, resulting in the lysosomal deficiency of glucocerebrosidase activity. Gaucher
disease is characterized by the toxic accumulation of glucosylceramide in the reticuloendothelial
system. Acid sphingomyelinase deficiency (ASMD), previously known as Niemann Pick
A/B disease, is also an autosomal recessive lysosomal storage disorder due to mutations
in the SMPD1 gene, which result in acid sphingomyelinase deficiency and the accumulation of sphingomyelin
in mononuclear phagocytic system and hepatocytes. The phenotypic expression of Gaucher
disease type 1 (GD1), the most common type, and chronic visceral ASMD may overlap
for several signs or symptoms. Splenomegaly is detectable in approximately 90% of
the patients in both conditions; however, since GD1 is more frequent than ASMD, clinicians
are more prone to suspect it, often neglecting the diagnosis of ASMD.
Based on previous experience, a group of experts in the clinical and laboratory diagnosis,
management, and treatment of lysosomal storage disorders developed an algorithm for
both GD1 and ASMD to support physicians, including primary care providers, internists,
and specialists (e.g., hepatologists, hematologists, and pulmonologists) to suspect
and differentiate GD1 and ASMD and to provide the appropriate referral.
Keywords
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Article info
Publication history
Published online: November 26, 2022
Accepted:
November 21,
2022
Received in revised form:
November 14,
2022
Received:
September 16,
2022
Publication stage
In Press Corrected ProofIdentification
Copyright
© 2022 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
