Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities
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Serum tryptase baseline concentrations differ according to the underlying disease and the person's genetic makeup.
“the baseline level of tryptase varies depending on the underlying disease and the genetic background.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [28]
In “To the Editor” (page not provided), the authors report elevated basal tryptase segregating in nine families with an autosomal dominant inheritance pattern, supporting the genetic-background part of the claim. They associate elevated tryptase with clinical features but do not establish that baseline concentrations vary according to the underlying disease; they say whether the elevation is primary or secondary remains under investigation. (LLM, conf=0.85)
Experimental — accuracy not yet measuredSeveral genetic, inflammatory, and neoplastic conditions are linked to raised basal serum tryptase.
“Thus, a number of genetic, inflammatory, and neoplastic conditions are associated with an increased basal serum tryptase level.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [28]
In “To the Editor” (page not specified), the paper reports elevated basal tryptase inherited in nine families and associated with atopic and gastrointestinal conditions, including eosinophilic gastrointestinal disease. It discusses systemic mastocytosis, but excludes that diagnosis in the patients evaluated; it does not establish the broader claim that a number of neoplastic conditions are associated with raised basal tryptase. (LLM, conf=0.82)
Experimental — accuracy not yet measuredThese conditions include tryptase gene replications such as hereditary alpha tryptasemia, chronic infections such as helminth infections, renal insufficiency especially in hemodialysis patients, and myeloid neoplasms including myelodysplastic syndromes, systemic mastocytosis, acute myeloid leukemia, chronic myeloid leukemia, and chronic eosinophilic leukemia.
“These include tryptase gene replications such as hereditary alpha tryptasemia; chronic infections, such as helminth infections; renal insufficiency – especially hemodialysis patients; and myeloid neoplasms, including myelodysplastic syndromes, SM, acute myeloid leukemia, chronic myeloid leukemia (CML), and chronic eosinophilic leukemia [25–33].”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [28]
Split into 2 atoms — 0 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 1 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredHereditary alpha-tryptasemia is an autosomal dominant condition defined by germline replications, usually duplications or triplications, of the TPSAB1 gene encoding alpha-tryptase.
“hereditary alpha-tryptasemia, an autosomal dominant condition defined by germline replications (usually duplications or triplications) of the TPSAB1 gene encoding alpha-tryptase (64-67).”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [64]
The “To the Editor” section reports an autosomal dominant inheritance pattern of elevated basal serum tryptase in nine families. It does not identify TPSAB1 duplications or triplications as the cause; the authors say additional genetic study is ongoing. (LLM, conf=0.90)
Experimental — accuracy not yet measuredIn some cases, patients with HαT do present with a clinical picture dominated by mediator-related symptoms (i.e., vibratory urticaria, flushing, abdominal cramps, headache, dysautonomia, etc.).
“In some cases, patients with HαT do present with a clinical picture dominated by mediator-related symptoms (i.e., vibratory urticaria, flushing, abdominal cramps, headache, dysautonomia, etc.) [15,16,45].”
From Diagnostic Significance of Tryptase for Suspected Mast Cell Disorders (2023) · cites this paper as [45]
In “To the Editor” (page unavailable), the paper reports that 26/33 people with inherited elevated tryptase had urticaria, flushing, or cramping abdominal pain consistent with mast-cell degranulation; vibration could trigger these symptoms. It also reports autonomic dysfunction, but does not mention headache or establish that the autonomic symptoms were mediator-related. The paper describes inherited tryptasemia rather than identifying the genetic basis denoted by HαT. (LLM, conf=0.84)
Experimental — accuracy not yet measured
Various clinical conditions, including dysautonomia with postural orthostatic hypotension, flushing, gastrointestinal hypomotility, joint hypermobility, vibratory urticaria, irritable bowel syndrome, chronic musculoskeletal pain, retained primary dentition, and allergic disorders, were initially reported in patients with hereditary alpha-tryptasemia.
“Initially, various clinical conditions, including dysautonomia with postural orthostatic hypotension, fl ushing, gastrointestinal hypomotility, joint hypermobility, vibratory urticaria, irritable bowel syndrome, chronic musculoskeletal pain, retained primary dentition, and allergic disorders, were reported in patients with H a T. 120,121,125-127”
From Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review (2021) · cites this paper as [120]
The “To the Editor” section (page unavailable) reports flushing, irritable bowel syndrome, chronic musculoskeletal pain, atopic symptoms, autonomic dysfunction, and a hypermobile connective-tissue phenotype in families with inherited elevated tryptase. It describes postural orthostatic tachycardia syndrome, not postural orthostatic hypotension; our copy also does not report gastrointestinal hypomotility or retained primary dentition. It mentions urticaria and vibration as a possible symptom trigger, but does not specifically identify vibratory urticaria. (LLM, conf=0.88)
Experimental — accuracy not yet measuredHereditary alpha-tryptasemia is an autosomal dominant genetic trait caused by increased TPSAB1 copy number encoding alpha-tryptase, and it may be accompanied by slightly increased numbers of mast cells in bone marrow and gastrointestinal biopsy specimens.
“Hereditary a -tryptasemia is an autosomal dominant genetic trait caused by increased TPSAB1 copy number encoding a -tryptase; it may be accompanied by slightly increased numbers of MCs in BM and gastrointestinal biopsy specimens. 120-123”
From Selecting the Right Criteria and Proper Classification to Diagnose Mast Cell Activation Syndromes: A Critical Review (2021) · cites this paper as [120]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredIn affected family members, MCA symptoms if present may be chronic or acute, and other findings such as dysautonomia, chronic pain, and connective tissue abnormalities including joint hypermobility may be observed.
“In affected family members, symptoms of MCA, if present, may be chronic and/or acute, and other symptoms and findings, including dysautonomia, chronic pain, and connective tissue abnormalities such as joint hypermobility, may also be observed (64-67).”
From Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome (2019) · cites this paper as [64]
More than 30% of patients with myeloid neoplasms, including mastocytosis, have raised basal tryptase.
“over 30% of all patients with myeloid neoplasms, including mastocytosis, have elevated basal tryptase levels.”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [28]
The 'To the Editor' section reports elevated basal tryptase in families with inherited tryptasemia and says that the patients assessed did not meet criteria for systemic mastocytosis. Searches for myeloid neoplasms and a prevalence above 30% found no passage in our copy addressing that claim; no page number is provided for the section. (LLM, conf=0.75)
Experimental — accuracy not yet measuredUsing the 11.4 ng/mL threshold, raised basal tryptase is frequent in otherwise healthy people (about 5-10% of the general population), in various reactive states, and in hematologic disorders, especially myeloid malignancies (about 20-30%).
“when taking the 11.4 threshold as denominator, an increased basal tryptase level is found frequently in otherwise healthy individuals (roughly 5–10% of the general population), in diverse reactive states, and in hematologic disorders, especially in myeloid malignancies (roughly 20–30%; Table 2) [25–31].”
From Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome (2019) · cites this paper as [28]
The To the Editor section reports elevated basal tryptase in nine families referred for allergic disease or suspected mastocytosis; it does not establish how frequently elevated levels occur in otherwise healthy people. Searches for the 11.4 ng/mL threshold, the 5–10% and 20–30% estimates, reactive states, and myeloid malignancies found no passage supporting those claims in our copy. (LLM, conf=0.76)
Experimental — accuracy not yet measuredMCAS has been reported with congenital connective tissue disorders such as hypermobility EDS and dysautonomia such as POTS or autonomic failure, for which an autoimmune association has been suggested.
“MCAS has been reported in conjunction with congenital connective tissue disorders (such as hypermobility EDS) and dysautonomia (as in patients with POTS or autonomic failure),17,52,53 for which an association with autoimmunity has been suggested.”
From Mast cell activation syndrome: Current understanding and research needs (2024) · cites this paper as [52]
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“Another special situation is hereditary alpha-tryptasemia, an autosomal-dominant condition defined by germline replications (usually duplications or triplications) of the TPSAB1 gene encoding alpha-tryptase.(64-67) In affected family members, symptoms of MCA, if present, may be chronic and/or acute, and other symptoms…”
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Mast cell activation disease and the modern epidemic of chronic inflammatory disease
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Clonal mast cell disorders and hereditary α-tryptasemia as risk factors for anaphylaxis
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Self-citationPostural orthostatic tachycardia syndrome and the potential role of mast cell activation
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Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis
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Self-citationGastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach
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Mast cell disorders are associated with decreased cerebral blood flow and small fiber neuropathy
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Neuromuscular Strain Increases Symptom Intensity in Chronic Fatigue Syndrome
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Self-citationMast cell activation in the context of elevated basal serum tryptase: genetics and presentations
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Lipidomic analysis of urinary exosomes from hereditary α‐tryptasemia patients and healthy volunteers
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Self-citationVibratory Angioedema Subgroups, Features, and Treatment: Results of a Systematic Review
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Diagnostic Challenges in Anaphylaxis
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“In some cases, patients with H α T do present with a clinical picture dominated by mediator-related symptoms (i.e., vibratory urticaria, flushing, abdominal cramps, headache, dysautonomia, etc.) [15,16,45].”
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Self-citationUsing the Right Criteria for MCAS
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Self-citationGenetic and Molecular Contributors in Eosinophilic Esophagitis
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Anaphylaxis: Advances in the Past 10 Years
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Cutaneous Manifestations in Hereditary Alpha Tryptasemia
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- Authors
- Lyons, J. J., Sun, G., Stone, K. D., Nelson, C., Wisch, L., O'Brien, M., Jones, N., Lindsley, A., Komarow, H. D., Bai, Y., Scott, L. M., Cantave, D., Maric, I., Abonia, J. P., Rothenberg, M. E., Schwartz, L. B., Milner, J. D., & Wilson, T. M.
- Affiliations
- National Institutes of Health (US)
- Frederick National Laboratory for Cancer Research (US)
- Cincinnati Children's Hospital Medical Center (US)
- Virginia Commonwealth University (US)
- Corresponding author
- Milner, Joshua D.
- ORCID
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2014-05
- Volume
- 133
- Issue
- 5
- Pages
- 1471-1474
- ISSN
- 0091-6749 (ISSN-L)
- PMC
- PMC4016972
- OpenAlex
- W2104298123
- Cited by
- 136
- References
- 9
- Citations by year
- 2026: 7 · 2025: 8 · 2024: 10 · 2023: 10 · 2022: 15 · 2021: 26 · 2020: 14 · 2019: 14 · 2018: 10 · 2017: 4 · 2016: 6 · 2015: 4 · 2014: 5 · 2012: 1
- FWCI
- 2.89
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (5t32ai060515-15, HHSN261200800001C)
- National Cancer Institute (HHSN261200800001E))
- National Institute of Allergy and Infectious Diseases (U19AI077435, T32 AI-060515, ZIAAI001183, U19AI77435)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK090971)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (K12HD028827)
- Topics
- Life Sciences › Immunology and Microbiology › Immunology › Mast cells and histamine
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Health Sciences › Medicine › Immunology and Allergy › Food Allergy and Anaphylaxis Research
- Keywords
- atopy, connective tissue abnormalities, Mendelian inheritance, mast cells, genetic mutations, allergic diathesis
- MeSH terms
- Connective Tissue, Female, Humans, Hypersensitivity, Male, Tryptases
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