Elevated Basal Serum Tryptase: Disease Distribution and Variability in a Regional Health System
Aubri M Waters1, Hyun J Park1, Andrew L Weskamp2
1Allergy and Immunology Service, Walter Reed National Military Medical Center, Bethesda, Md.
The Journal of Allergy and Clinical Immunology. in Practice
|January 15, 2022
Summary
Hereditary-alpha tryptasemia (HαT) is a common cause of elevated basal serum tryptase (BST). Genotyping is useful, as HαT, chronic kidney disease (CKD), and myeloid disorders account for most elevated BST cases.
Area of Science:
- Clinical genetics
- Hematology
- Nephrology
Background:
- Hereditary-alpha tryptasemia (HαT) is the most frequent cause of elevated basal serum tryptase (BST).
- The clinical utility of tryptase genotyping for elevated BST is not well-defined.
- Previous studies on BST and associated conditions like CKD, MDS, and eosinophilic esophagitis lacked genetic testing.
Purpose of the Study:
- To assess the value of tryptase genotyping in identifying HαT among individuals with moderately elevated BST in a healthcare system.
Main Methods:
- Retrospective chart review of 109 subjects with BST ≥ 7.5 ng/mL.
- Subjects were tested for HαT or had conditions linked to elevated BST.
- Data included clinical and laboratory findings.
Main Results:
- Of 58 subjects with BST ≥ 11.5 ng/mL, HαT was found in 63.8%.
- Chronic kidney disease (CKD) and clonal myeloid disorders were present in 12.1% and 20.7%, respectively.
- Elevated BST correlated with increased tryptase variability, irrespective of the underlying cause.
Conclusions:
- HαT, CKD, and clonal myeloid disorders explain about 90% of elevated BST cases in clinical practice.
- Myeloid neoplasms were more common in this cohort, possibly due to referral bias.
- Elevated BST is consistently associated with greater tryptase level variability.
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