Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.7
3.0
Journals
JCM
Special Issues
Clinical Presentation, Detection and Therapy of Acid Sphingomyelinase Deficiency (ASMD)
share announcement

Clinical Presentation, Detection and Therapy of Acid Sphingomyelinase Deficiency (ASMD)

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Gastroenterology & Hepatopancreatobiliary Medicine".

Deadline for manuscript submissions: closed (20 September 2021) | Viewed by 6988

Special Issue Editor

Prof. Dr. Margaret McGovern

E-Mail Website
Guest Editor
Renaissance School of Medicine at Stony Brook University, Stony Brook, NY, USA
Interests: inborn errors of metabolism, and has conducted NIH funded research directed at the development of new therapies for these rare diseases

Special Issue Information

Dear Colleagues,

Although the care of acid sphingomyelinase deficiency (ASMD) patients is typically provided by metabolic disease specialists and/or medical geneticists, education of primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) so that they will be able to recognize these patients to provide the appropriate care and referrals is of importance. A better understanding of the presenting features of the disorder, the most appropriate methods to achieve definitive laboratory diagnosis and the natural history of the various forms of the disorder have been further elucidated over the past decade. Similarly, genotype–phenotype correlations have been formulated and the utility of biomarkers of disease severity has been assessed. In addition, various therapeutic approaches to treat the disease have been developed and are being evaluated in clinical trials. The early recognition of patients with ASMD will be important for the initiation of these new therapies in affected patients as they become available.

Prof. Dr. Margaret McGovern
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • acid sphingomyelinase deficiency
  • Niemann–Pick disease type B
  • Niemann–Pick disease type A
  • sphingomyelin
  • phosphodiesterase 1 gene (SMPD1)
  • lysosomal storage disease
  • sphingomyelin
  • hepatosplenomegaly
  • sphingolipidosis

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

8 pages, 566 KiB  
Article
Prevalence of Cancer in Acid Sphingomyelinase Deficiency
by Wladimir Mauhin, Thierry Levade, Marie T. Vanier, Roseline Froissart and Olivier Lidove
J. Clin. Med. 2021, 10(21), 5029; https://doi.org/10.3390/jcm10215029 - 28 Oct 2021
Cited by 7 | Viewed by 2371
Abstract
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the adult chronic [...] Read more.
Acid sphingomyelinase deficiency (ASMD) is an inherited lysosomal disease characterised by a diffuse accumulation of sphingomyelin that cannot be catabolised into ceramide and phosphocholine. We studied the incidence of cancer in ASMD patients. We retrospectively reviewed the medical records of the adult chronic visceral ASMD patients in our cohort. Thirty-one patients (12 females, 19 males) were included with a median age of 48.7 y. (IQ: 30.3–55.1). Five cancers were observed in 1 female (breast cancer) and 4 males (two lung cancers, one thyroid cancer and one bladder cancer), resulting in a prevalence of 16.1%. The existence of cancer was associated with a more severe ASMD characterised by a larger spleen (25 cm (22.5–25) vs. 18 cm (17–20); p = 0.042); lower diffusing capacity of the lung for carbon monoxide (DLCO; 29.5 % (17.8–43.0) vs. 58.5 % (49.8–69.5%); p = 0.01) and tobacco use (100% vs. 45%; p = 0.04). Three patients died, all from cancer (p = 0.002). The prevalence of cancer appeared to be strikingly elevated in our cohort of patients, without any specificity in the type of cancer. Systematic screening for cancer should be performed, and carcinogenic substances such as tobacco should be avoided in patients with ASMD. Full article
(This article belongs to the Special Issue Clinical Presentation, Detection and Therapy of Acid Sphingomyelinase Deficiency (ASMD))
►▼ Show Figures

Figure 1

Review

Jump to: Research

14 pages, 819 KiB  
Review
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
by Wladimir Mauhin, Raphaël Borie, Florence Dalbies, Claire Douillard, Nathalie Guffon, Christian Lavigne, Olivier Lidove and Anaïs Brassier
J. Clin. Med. 2022, 11(4), 920; https://doi.org/10.3390/jcm11040920 - 10 Feb 2022
Cited by 10 | Viewed by 4061
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, [...] Read more.
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. Full article
(This article belongs to the Special Issue Clinical Presentation, Detection and Therapy of Acid Sphingomyelinase Deficiency (ASMD))
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop