Hereditary alpha-tryptasemia syndrome

syndrome = extra copies of gene TPSAB1 with elevated ALPHA-TRYPTASE and several symptoms of mast cell activation syndrome; trait = extra copies of gene with elevated levels of alpha-tryptase but few or no symptoms; https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome

Also Known As:

Networked: 28 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mastocytosis
2.	Hypersensitivity (Allergy)
3.	Systemic Mastocytosis
4.	Mast Cell Activation Disorders (Mast-Cell Disease)
5.	Cutaneous Mastocytosis

Experts

1.	Lyons, Jonathan J: 15 articles (04/2022 - 01/2018)
2.	Arock, Michel: 6 articles (01/2022 - 11/2020)
3.	Valent, Peter: 6 articles (01/2022 - 11/2020)
4.	Metcalfe, Dean D: 5 articles (01/2022 - 11/2020)
5.	Milner, Joshua D: 4 articles (04/2022 - 06/2020)
6.	Bonadonna, Patrizia: 4 articles (01/2022 - 11/2020)
7.	Brockow, Knut: 4 articles (01/2022 - 11/2020)
8.	Glover, Sarah C: 4 articles (01/2022 - 01/2021)
9.	Hartmann, Karin: 4 articles (01/2022 - 11/2020)
10.	Hoermann, Gregor: 4 articles (01/2022 - 01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary alpha-tryptasemia syndrome:

1.	Tryptases (Tryptase)IBA 10/01/2023 - "Recently, there has been a growing debate about the normal range of tryptase because individuals with the hereditary alpha tryptasemia (HαT) trait may or may not be symptomatic, and if symptomatic, uncertainty exists as to whether this trait directly causes clinical phenotypes or aggravates certain conditions. " 10/01/2022 - "Hereditary alpha-tryptasemia (HAT) is an autosomal dominant genetic trait and a common cause of elevated basal serum tryptase (BST) in Western populations. " 04/14/2022 - "Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number. " 01/01/2022 - "Hereditary-alpha tryptasemia (HαT) is the most common etiology for elevated basal serum tryptase (BST). " 01/01/2022 - "Hereditary alpha-tryptasemia despite normal tryptase-encoding gene copy number owing to copy number loss in trans."
2.	Arthropod VenomsIBA 01/01/2022 - "Moreover, hereditary alpha-tryptasemia is more frequent in patients with SM with Hymenoptera venom allergy and severe mediator-related symptoms than in patients with SM without symptoms. " 10/01/2020 - "To discuss the association between the common dominantly inherited genetic trait hereditary alpha-tryptasemia (HαT) and hymenoptera venom-induced anaphylaxis (HVA). " 10/01/2020 - "Hymenoptera venom-induced anaphylaxis and hereditary alpha-tryptasemia." 08/01/2023 - ": AdvSM: Advanced systemic mastocytosis; ASM: Aggressive systemic mastocytosis; aST: acute serum tryptase; BM: Bone marrow; BMM: Bone marrow mastocytosis; bST: baseline serum tryptase; CM: Cutaneous mastocytosis; DCM: Diffuse cutaneous mastocytosis; HVA: Hymenoptera venom allergy; HaT: Hereditary alpha tryptasemia; ISM: Indolent systemic mastocytosis; MC: Mast cell; MCA: Mast cell activation; MCAS: Mast cell activation syndrome; MCL: Mast cell leukemia; MIS: Mastocytosis in the skin; MMAS: Monoclonal mast cell activation syndrome; MPCM: Maculopapular cutaneous mastocytosis; SM: Systemic mastocytosis; SM-AHN: Systemic mastocytosis with associated hematological neoplasm; SSM: Smouldering systemic mastocytosis; VIT: Venom immunotherapy."
3.	Immunoglobulin E (IgE)IBA 11/27/2020 - "Mast cell activation (MCA) is seen in a variety of clinical contexts and pathologies, including IgE-dependent allergic inflammation, other immunologic and inflammatory reactions, primary mast cell (MC) disorders, and hereditary alpha tryptasemia (HAT). " 01/01/2022 - "These conditions include hereditary alpha tryptasemia, mastocytosis with an expansion of clonal KIT-mutated mast cells, atopic diathesis, and overt IgE-dependent and IgE-independent allergies. "
4.	dupilumabIBA 09/09/2023 - "Her workup at this point was negative for food allergy, alpha gal syndrome, systemic mastocytosis, hereditary alpha tryptasemia, carcinoid syndrome, and pheochromocytoma, and she was trialed on dupilumab with near resolution of her symptom frequency over a six month time period. "
5.	rat Tpsab1 proteinIBA 11/01/2020 - "Hereditary alpha-tryptasemia (HAT) is a genetic trait caused by an increased alpha-tryptase tryptase alpha/beta 1 gene copy number. "

Therapies and Procedures

1.	Therapeutics 01/01/2018 - "As the functional effects of increased basal serum tryptase and/or altered tryptase gene expression are elucidated, greater insights will be gained into the symptoms associated with hereditary alpha tryptasemia and their potential therapy."