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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Elevated tryptase level in a child with idiopathic anaphylaxis: a case of hereditary alpha-tryptasemia
Vicky Le Blanc1, Wade T A Watson2
1Division of Allergy, Dalhousie University, IWK Health Centre, Halifax, NS, Canada. vicky.leblanc@dal.ca.
Abstract:
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant disorder estimated to affect 5% of the population. High baseline tryptase level is a consistent finding, but there is a great variability of clinic manifestations, including no symptoms at all. We describe a case of HαT in a 5 years 8 months old girl manifesting with idiopathic anaphylaxis and elevated baseline tryptase level. As more cases of HαT are described, a better understanding of the clinical phenotype will be acquired.
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