Background: Some recent familiar studies have described a pattern of autosomal dominant inheritance for increased basal serum tryptase (BST), but no correlation with mRNA expression and gene dose have been reported.

Objective: We analyzed the TPSAB1 mRNA expression and gene dose in a four-member family with high BST and in two control subjects.

Methods: Blood samples were collected from the family and control subjects. A complete morphologic, immunophenotypical and molecular bone marrow mast cell studies were performed. mRNA gene expression and gene dose were performed in a LightCycler 480 instrument.

Results: The elevated total BST in family members correlated with a significant increase in tryptase gene expression and gene dose.

Conclusions and Clinical Relevance: We present a family with elevated BST that correlated with a high expression of tryptase genes and gene dose. The main relevance is that not always serum elevated basal levels of tryptase means that the patient has a mast cell disorders. Clinicians should be aware that there are cases of familial hypertriptasemia.

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European Journal of Clinical Oncology
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