{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T03:06:54Z","timestamp":1785294414642,"version":"3.55.0"},"reference-count":46,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T00:00:00Z","timestamp":1644451200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>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\u2013Pick 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.<\/jats:p>","DOI":"10.3390\/jcm11040920","type":"journal-article","created":{"date-parts":[[2022,2,11]],"date-time":"2022-02-11T02:35:51Z","timestamp":1644546951000},"page":"920","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France"],"prefix":"10.3390","volume":"11","author":[{"given":"Wladimir","family":"Mauhin","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence Maladies Lysosomales, Groupe Hospitalier Diaconesses Croix Saint-Simon, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9906-0024","authenticated-orcid":false,"given":"Rapha\u00ebl","family":"Borie","sequence":"additional","affiliation":[{"name":"Service de Pneumologie A, H\u00f4pital Bichat, 75018 Paris, France"},{"name":"Unit\u00e9 de Recherche, INSERM, Unit\u00e9 1152, Universit\u00e9 Paris Diderot, 75018 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Dalbies","sequence":"additional","affiliation":[{"name":"Institut de Canc\u00e9ro-H\u00e9matologie, CHU Morvan, 29200 Brest, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Douillard","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Avenue Avin\u00e9e, H\u00f4pital Jeanne de Flandres, CHU Lille, 59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Guffon","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Lyonnais des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Hospices Civils de Lyon, HCL, 69677 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2538-0076","authenticated-orcid":false,"given":"Christian","family":"Lavigne","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne et Immunologie Clinique, Centre de Comp\u00e9tence des Maladies M\u00e9taboliques H\u00e9r\u00e9ditaires, CHU Angers, 49933 Angers, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lidove","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Interne, Centre de R\u00e9f\u00e9rence Maladies Lysosomales, Groupe Hospitalier Diaconesses Croix Saint-Simon, 75020 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie et Maladies du M\u00e9tabolisme, APHP Necker, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1186\/s13023-021-01842-0","article-title":"Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation","volume":"16","author":"McGovern","year":"2021","journal-title":"Orphanet J. 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