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Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Authors :
Wladimir Mauhin
Raphaël Borie
Florence Dalbies
Claire Douillard
Nathalie Guffon
Christian Lavigne
Olivier Lidove
Anaïs Brassier
Source :
Journal of clinical medicine. 11(4)
Publication Year :
2021

Abstract

Acid sphingomyelinase deficiency (ASMD) is a rare inherited lipid storage disorder caused by a deficiency in lysosomal enzyme acid sphingomyelinase which results in the accumulation of sphingomyelin, predominantly within cells of the reticuloendothelial system located in numerous organs, such as the liver, spleen, lungs, and central nervous system. Although all patients with ASMD share the same basic metabolic defect, a wide spectrum of clinical presentations and outcomes are observed, contributing to treatment challenges. While infantile neurovisceral ASMD (also known as Niemann–Pick disease type A) is rapidly progressive and fatal in early childhood, and the more slowly progressive chronic neurovisceral (type A/B) and chronic visceral (type B) forms have varying clinical phenotypes and life expectancy. The prognosis of visceral ASMD is mainly determined by the association of hepatosplenomegaly with secondary thrombocytopenia and lung disease. Early diagnosis and appropriate management are essential to reduce the risk of complications and mortality. The accessibility of the new enzyme replacement therapy olipudase alfa, a recombinant human ASM, has been expedited for clinical use based on positive clinical data in children and adult patients, such as improved respiratory status and reduced spleen volume. The aim of this article is to share the authors experience on monitoring ASMD patients and stratifying the severity of the disease to aid in care decisions.

Subjects

Subjects :
General Medicine

Details

ISSN :
20770383
Volume :
11
Issue :
4
Database :
OpenAIRE
Journal :
Journal of clinical medicine
Accession number :
edsair.doi.dedup.....24afc2927c3e142ba7c3a9ede1b62f98