Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

Margaret M. McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Melissa P. Wasserstein

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases.Background:Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement.Purpose and methods:An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes.Conclusions:Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD.

Original languageEnglish (US)
Pages (from-to)967-974
Number of pages8
JournalGenetics in Medicine
Volume19
Issue number9
DOIs
StatePublished - Sep 1 2017

Fingerprint

Type A Niemann-Pick Disease
Guidelines
Acids
Lysosomal Storage Diseases
Sphingomyelin Phosphodiesterase
Sphingomyelins
Clinical Laboratory Techniques
Metabolic Diseases
Expert Testimony
Disease Management
Genomics
Primary Health Care
Phenotype

Keywords

  • acid sphingomyelin deficiency
  • lysosomal storage disorder
  • Niemann-Pick disease types A and B

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. / McGovern, Margaret M.; Dionisi-Vici, Carlo; Giugliani, Roberto; Hwu, Paul; Lidove, Olivier; Lukacs, Zoltan; Eugen Mengel, Karl; Mistry, Pramod K.; Schuchman, Edward H.; Wasserstein, Melissa P.

In: Genetics in Medicine, Vol. 19, No. 9, 01.09.2017, p. 967-974.

Research output: Contribution to journalArticle

McGovern, MM, Dionisi-Vici, C, Giugliani, R, Hwu, P, Lidove, O, Lukacs, Z, Eugen Mengel, K, Mistry, PK, Schuchman, EH & Wasserstein, MP 2017, 'Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency', Genetics in Medicine, vol. 19, no. 9, pp. 967-974. https://doi.org/10.1038/gim.2017.7
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics in Medicine. 2017 Sep 1;19(9):967-974. https://doi.org/10.1038/gim.2017.7
McGovern, Margaret M. ; Dionisi-Vici, Carlo ; Giugliani, Roberto ; Hwu, Paul ; Lidove, Olivier ; Lukacs, Zoltan ; Eugen Mengel, Karl ; Mistry, Pramod K. ; Schuchman, Edward H. ; Wasserstein, Melissa P. / Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. In: Genetics in Medicine. 2017 ; Vol. 19, No. 9. pp. 967-974.
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