Hereditary alpha tryptasemia syndrome
From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history
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
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
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 joint pains
- Ehlers-Danlos syndrome or hereditary skeletal abnormality
- other connective tissue problems e.g. joint hypermobility or scoliosis
- urticaria (hives) or skin itching
- cardiac symptoms such as a racing or pounding heart, blood pressure swings sometimes with fainting
- anxiety, panic attacks, or depression
- retained primary dentition (retained baby teeth)
- systemic venom reaction, e.g. serious bee sting allergy[4][1]
The TPSAB1 has also been implicated in unexplained gastrointestinal symptoms and mast cell activation.[4][1][2][3]
Treatment
ME/CFS
Notable studies
See also
Learn more
- Hereditary Alpha Tryptasemia and Hereditary Alpha Tryptasemia Syndrome: FAQ - National Institute of Allergy and Infectious Diseases
References
- ↑ 1.0 1.1 1.2 1.3 1.4 "Hereditary Alpha Tryptasemia Syndrome FAQ". National Institute of Allergy and Infectious Diseases. October 17, 2016.
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 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.
- ↑ 4.0 4.1 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.
