Hereditary alpha tryptasemia syndrome

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Hereditary Alpha Tryptasemia Syndrome or hereditary α-tryptasemia syndrome or HATS is a genetic and multi-systemic disease caused by an increased copy number α-tryptase-encoding regions on the TPSAB1 (TPSAB1) gene.[1]

Hereditary alpha tryptasemia/familial hypertryptasemia[edit | edit source]

Hereditary alpha tryptasemia (H⍺T or HAT), alternatively known as familial hypertryptasemia (FHT), is common in the general population, affecting around 1 in 20 people, and is often asymptomatic.[2][1][3]

Hereditary alpha tryptasemia syndrome (HATS) is only diagnosed when a cluster of associated symptoms are also present.[1]

Signs and symptoms[edit | edit source]

Hereditary Alpha Tryptasemia Syndrome symptoms include:

The TPSAB1 has also been implicated in unexplained gastrointestinal symptoms and mast cell activation.[4][1][2][3]

Treatment[edit | edit source]

ME/CFS[edit | edit source]

Notable studies[edit | edit source]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

  1. 1.01.11.21.31.4 "Hereditary Alpha Tryptasemia Syndrome FAQ". National Institute of Allergy and Infectious Diseases. October 17, 2016.
  2. 2.02.1 Lyons, Jonathan J.; Yu, Xiaomin; Hughes, JasonD.; Le, Quang T.; Jamil, Ali; Bai, Yun; Ho, Nancy; Zhao, Ming; Liu, Yihui; O'Connell, Michael P.; Trivedi, Neil N. (December 2016). "Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number". Nature Genetics. 48 (12): 1564–1569. doi:10.1038/ng.3696. ISSN 1546-1718. PMC 5397297. PMID 27749843. Cite has empty unknown parameter: |authorlinklink= (help)
  3. 3.03.1 Luskin, Kathleen T.; White, Andrew A.; Lyons, Jonathan J. (June 2021). "The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia". The Journal of Allergy and Clinical Immunology. In Practice. 9 (6): 2235–2242. doi:10.1016/j.jaip.2021.03.005. ISSN 2213-2201. PMID 33744473. Cite has empty unknown parameter: |authorlinklink= (help)
  4. 4.04.1 Lyons, Jonathan J. (August 1, 2018). "Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features". Immunology and Allergy Clinics of North America. Mastocytosis. 38 (3): 483–495. doi:10.1016/j.iac.2018.04.003. ISSN 0889-8561. PMC 6411063. PMID 30007465.

α α / Α. Greek letter alpha or alfa (a symbol used in science), equivalent to "a".

μg A microgram, a millionth of a gram. Micrograms can be written as mcg or μg. 1000 micrograms (1000mcg) is equivalent to 1 milligram (1mg).

μg A microgram, a millionth of a gram. Micrograms can be written as mcg or μg. 1000 micrograms (1000mcg) is equivalent to 1 milligram (1mg).

postural orthostatic tachycardia syndrome (POTS) - A form of orthostatic intolerance where the cardinal symptom is excessive tachycardia due to changing position (e.g. from lying down to sitting up).

mastocytosis A type of mast cell disease in which chronic symptoms are related to overproduction or over-accumulation of mast cells. Not to be confused with Mast Cell Activation Syndrome (MCAS), where there are normal numbers of mast cells, but abnormal activity.

The information provided at this site is not intended to diagnose or treat any illness.
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history.