ReviewDeutsches Arzteblatt international2024
The Clinical Features of Hereditary Alpha-Tryptasemia—Implications for Interdisciplinary Practice.
Review in Deutsches Arzteblatt international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 11 citations in OpenAlex.
- Understanding Tryptase Physiology, Clinical Significance, and Diagnostic Applications: Where Do We Stand?Biomolecules · 2026Review
- Emerging Insights into Hereditary Alpha-Tryptasemia in the Context of Mast Cell Disorders: A Greek Case Series.Journal of personalized medicine · 2026Article
- Sex differences in self-reported symptoms and comorbidities associated with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A retrospective study.Research square · 2026Article
- Hereditary α-tryptasemia; a review of mechanisms linking α-tryptase gene dosage to intestinal homeostasis and immunopathology.Frontiers in allergy · 2026Review
- Severe recurrent anaphylaxis: investigating underlying mechanisms beyond IgE-mediated allergy - a case report.Frontiers in allergy · 2026Article
- Decoding allergy in vitro: Challenges and clinical use of humoral and cellular methods.Allergologie select · 2026Review
- Hereditary alpha tryptasemia and clinical implications.World journal of clinical cases · 2025Review
- Hereditary α-Tryptasemia and Peripheral BloodInternational journal of molecular sciences · 2025Article
- Outstanding Issues Need to Be Clarified.Deutsches Arzteblatt international · 2025Article
- In Reply.Deutsches Arzteblatt international · 2025Article
- Non allergic gastrointestinal manifestations of hereditary alpha-tryptasemia.Frontiers in allergy · 2025Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary alpha-tryptasemia (HAT) is a genetic predisposition of autosomal dominant inheritance that leads to a high normal (≥ 8-11.4 μg/L) or pathologically elevated (>11.4 μg/L) basal serum tryptase (BST) concentration. Its prevalence in the United Kingdom and France is reportedly 5%-6%; its prevalence in Germany is unknown. Symptomatic persons with HAT suffer from a complex constellation of symptoms. As described in this review, HAT is an important differential diagnosis in interdisciplinary practice.
methodsThis review is based on publications about HAT retrieved by a selective search in PubMed, on relevant presentations at scientific meetings, and on our clinical experience. We also collected our own data on the prevalence and clinical manifestations of HAT.
resultsAccording to the literature, HAT is very common among patients in medical centers with BST values of 8 μg/L or above (64-74%). HAT is most commonly associated with neuropsychiatric symptoms such as exhaustion (85%), depressive episodes (59%), sleep disturbances (69%), and memory impairment (59%-68%), followed by gastrointestinal symptoms such as irritable bowel (30%-60%), nausea (51%), and reflux (49%-77%). Typical mast cell-mediated symptoms, such as flushing (47%), itch (69%), urticaria (37%), and anaphylaxis (14%-28%), are reported as well. Less commonly reported are cardio vascular manifestations, such as hypotonia, dizziness, and tachycardia (34%), and joint hyper - mobility (28%). HAT is more common among patients with systemic mastocytosis (SM; 12%-21%). It is often associated with severe anaphylaxis induced by insect toxins or unknown triggers. The therapeutic options include treatment with antihistamines, mastcell stabilizers, or IgE antibodies.
conclusionA diagnosis of hereditary alphatryptasemia can be strongly suspected on the basis of thorough history-taking and BST measurement and then confirmed by molecular genetic testing.
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