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Hereditary alpha tryptasemia syndrome
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==Signs and symptoms== Hereditary Alpha Tryptasemia Syndrome symptoms include: * a high baseline [[tryptase]] level (over 8 μg/L or over 11μg/L, depending on the criteria used) * positive [[tilt table test]]/[[dysautonomia]] e.g. [[postural orthostatic tachycardia syndrome]] (POTS) * chronic [[gastroesophageal reflux disease]] (GERD) * [[flushing]]/[[pruritus]] * Gastrointestinal dysmotility, [[bloating]], [[abdominal pain]], [[diarrhea]] and/or [[constipation]], which may be diagnosed as [[irritable bowel syndrome]] (IBS) and may meet the Rome III criteria * [[chronic pain]] or [[arthralgia|joint pains]] * [[Ehlers-Danlos syndrome]] or hereditary skeletal abnormality * other connective tissue problems e.g. [[joint hypermobility]] or scoliosis * [[urticaria]] (hives) or [[skin itch]]ing * cardiac symptoms such as a [[tachycardia|racing or pounding heart]], blood pressure swings sometimes with [[syncope|fainting]] * [[anxiety]], [[panic attack]]s, or [[depression]] * retained primary dentition (retained baby teeth) * systemic venom reaction, e.g. serious bee sting [[anaphylaxis|allergy]]<ref name="Lyons2018">{{Cite journal | title = Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features | date = 2018-08-01 | url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411063/|journal=Immunology and Allergy Clinics of North America|volume=38|issue=3 | pages = 483–495 | last = Lyons | first = Jonathan J.|series=Mastocytosis|language=en|doi=10.1016/j.iac.2018.04.003|pmc=PMC6411063|pmid=30007465|issn=0889-8561}}</ref><ref name="niaid-FAQ" /><br> The TPSAB1 has also been implicated in unexplained [[digestive problems|gastrointestinal symptoms]] and mast cell activation.<ref name="Lyons2018" /><ref name="niaid-FAQ">{{Cite web | title = Hereditary Alpha Tryptasemia Syndrome FAQ|website=[[National Institute of Allergy and Infectious Diseases]] | date = Oct 17, 2016 | url = https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq}}</ref><ref name="Lyons2016">{{Cite journal | title = Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number | date = Dec 2016 | url = https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397297|journal=Nature Genetics|volume=48|issue=12|pages=1564–1569 | last = Lyons | first = Jonathan J. | authorlink = | last2 = Yu | first2 = Xiaomin | authorlink2 = | last3 = Hughes | first3 = JasonD. | authorlink3 = | last4 = Le | first4 = Quang T. | authorlink4 = | last5 = Jamil | first5 = Ali | authorlink5 = | last6 = Bai | first6 = Yun | authorlink6 = | last7 = Ho | first7 = Nancy | last8 = Zhao | first8 = Ming | last9 = Liu | first9 = Yihui | last10 = O'Connell | first10 = Michael P. | last11 = Trivedi | first11 = Neil N.|language=en|doi=10.1038/ng.3696|pmc=PMC5397297|pmid=27749843|access-date=|issn=1546-1718|quote=|via=}}</ref><ref name="Luskin2021">{{Cite journal | title = The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia | date = Jun 2021 | url = https://pubmed.ncbi.nlm.nih.gov/33744473/|journal=The Journal of Allergy and Clinical Immunology. In Practice|volume=9|issue=6 | pages = 2235–2242 | last = Luskin | first = Kathleen T. | authorlink = | last2 = White | first2 = Andrew A. | authorlink2 = | last3 = Lyons | first3 = Jonathan J. | authorlink3 = |doi=10.1016/j.jaip.2021.03.005|pmc=|pmid=33744473|access-date=|issn=2213-2201|quote=|via=}}</ref>
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