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 language | English (US) |
|---|---|
| Pages (from-to) | 967-974 |
| Number of pages | 8 |
| Journal | Genetics in Medicine |
| Volume | 19 |
| Issue number | 9 |
| DOIs | |
| State | Published - Sep 1 2017 |
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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 journal › Article
}
TY - JOUR
T1 - Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
AU - McGovern, Margaret M.
AU - Dionisi-Vici, Carlo
AU - Giugliani, Roberto
AU - Hwu, Paul
AU - Lidove, Olivier
AU - Lukacs, Zoltan
AU - Eugen Mengel, Karl
AU - Mistry, Pramod K.
AU - Schuchman, Edward H.
AU - Wasserstein, Melissa P.
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
KW - acid sphingomyelin deficiency
KW - lysosomal storage disorder
KW - Niemann-Pick disease types A and B
UR - http://www.scopus.com/inward/record.url?scp=85013775293&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85013775293&partnerID=8YFLogxK
U2 - 10.1038/gim.2017.7
DO - 10.1038/gim.2017.7
M3 - Article
C2 - 28406489
AN - SCOPUS:85013775293
VL - 19
SP - 967
EP - 974
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 9
ER -