Persistent tryptase elevation in a patient with Gaucher disease
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A case of a patient with Gaucher Disease type 1 was reported to have an elevated tryptase level (up to 80 ng/mL) that improved upon initiation of enzyme replacement therapy.
“Also, a case of a patient with Gaucher Disease type 1, a lysosomal storage disorder, was reported to have an elevated tryptase level (up to 80 ng/mL) that improved upon initiation of enzyme replacement therapy [82].”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [82]
The case report (page unavailable) describes an 18-month-old boy with Gaucher disease type 3, not type 1. It reports elevated tryptase that decreased after velaglucerase alfa enzyme replacement therapy began, but the text gives levels of 49 and 63.2 μg/L, not a peak of 80 ng/mL. (LLM, conf=0.90)
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Cites
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Self-citationComplement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease
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The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia
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Self-citationElevated Serum Tryptase in Non-Anaphylaxis Cases: A Concise Review
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Mast cell activation in the context of elevated basal serum tryptase: genetics and presentations
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Self-citationDiagnostic Significance of Tryptase for Suspected Mast Cell Disorders
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“Also, a case of a patient with Gaucher Disease type 1, a lysosomal storage disorder, was reported to have an elevated tryptase level (up to 80 ng/mL) that improved upon initiation of enzyme replacement therapy [82].”
BackgroundThe Journal of Allergy and Clinical Immunology: In Practice 2018 Highlights
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Dosage de la tryptase : un guide d'utilisation pour le clinicien
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Tryptase : un dosage, une formule, plusieurs indications
François, S., Collet, E., Nicaise‐Roland, P., & Chabane, H. (2022) · Revue française d'allergologie · doi:10.1016/j.reval.2022.03.011 · Cited by 2 · see citing works
- Authors
- Schussler, E., Yang, A., Lyons, J. J., Milner, J. D., & Wang, J.
- Affiliations
- Weill Cornell Medicine (US)
- Icahn School of Medicine at Mount Sinai (US)
- National Institutes of Health (US)
- Corresponding author
- Schussler, Edith
- Venue
- The Journal of Allergy and Clinical Immunology In Practice
- Publisher
- Elsevier BV
- Published
- 2018-03
- Volume
- 6
- Issue
- 2
- Pages
- 697-699
- ISSN
- 2213-2198 (ISSN-L)
- PMC
- PMC8145058
- OpenAlex
- W2762530299
- Cited by
- 13
- References
- 12
- Citations by year
- 2023: 1 · 2022: 2 · 2021: 3 · 2020: 3 · 2019: 2 · 2018: 2
- FWCI
- 1.42
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- The Journal of Allergy and Clinical Immunology In Practice (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Allergy and Infectious Diseases (ZIAAI001192, ZIAAI001098)
- Topics
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Keywords
- Gaucher disease, lysosomal storage disease, beta-glucocerebrosidase deficiency, glucosylceramide accumulation, splenomegaly, hepatomegaly, cytopenia, bone disease
- MeSH terms
- Gaucher Disease, Humans, Infant, Male, Tryptases
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