About this Research Topic
Hereditary alpha-tryptasemia is a common genetic trait that was initially described 10 years ago and has been linked to heterogeneous clinical findings ranging from severe Hymenoptera venom anaphylaxis to irritable bowel syndrome, postural orthostatic tachycardia syndrome and retained primary dentition. The association with some of these symptoms has since been questioned. However, the link to anaphylaxis, especially in the context of Hymenoptera venom allergy and clonal mast cell disease, has been confirmed in multiple studies. Digital droplet PCR for the detection of additional TPSAB1 copies encoding alpha-tryptase has become more widely available and is poised to change the diagnostic workflow in individuals with elevated baseline serum tryptase, raising questions commonly encountered in the diagnostic workup of inherited disorders such as the need for family planning, genetic counselling, and testing of asymptomatic individuals. These questions can only be answered if the full implications of the diagnosis are understood.
Given how common hereditary alpha-tryptasemia within certain human populations, questions have arisen about possible genetic selection, and whether causative relationships exist between HaT and clinical phenotypes or diseases. The goal of this Research Topic is to characterize the various phenotypes that have been associated with HAT and the populations most likely to benefit from TPSAB1 ddPCR. Implications for family planning, the need for genetic counselling and screening for comorbidities (eg, clonal mast cell disease) will also be highlighted.
Scope and Information for Authors
• Common phenotypes of hereditary alpha-tryptasemia – what we have found 10 years on.
• HAT across the globe – prevalence of TPSAB1 in non-Western populations, associated clinical presentation
• The implications of HAT on established scores and diagnostic criteria (REMA, WHO systemic mastocytosis)
• What is a “normal” basal serum tryptase level? When to perform bone marrow examinations?
• Genetic counselling, family planning and screening in families with HAT
• HaT viewed in the context of Primary Atopic Disorders
Given how common hereditary alpha-tryptasemia within certain human populations, questions have arisen about possible genetic selection, and whether causative relationships exist between HaT and clinical phenotypes or diseases. The goal of this Research Topic is to characterize the various phenotypes that have been associated with HAT and the populations most likely to benefit from TPSAB1 ddPCR. Implications for family planning, the need for genetic counselling and screening for comorbidities (eg, clonal mast cell disease) will also be highlighted.
Scope and Information for Authors
• Common phenotypes of hereditary alpha-tryptasemia – what we have found 10 years on.
• HAT across the globe – prevalence of TPSAB1 in non-Western populations, associated clinical presentation
• The implications of HAT on established scores and diagnostic criteria (REMA, WHO systemic mastocytosis)
• What is a “normal” basal serum tryptase level? When to perform bone marrow examinations?
• Genetic counselling, family planning and screening in families with HAT
• HaT viewed in the context of Primary Atopic Disorders
Keywords: tryptase, anaphylaxis, screening, tryptasemia, mastocytosis
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