Table 1.

Clinical features associated with hereditary alpha-tryptasemia (HαT).

Manifestation	Reported Prevalence	Association Supported in Independent Cohorts
Basal serum tryptase >8ng/mL *	100%	Yes
Chronic gastroesophageal reflux symptoms	56–77%	No
Arthralgia	44–45%	No
Body pain/Headache	33–47%	No
Flushing/Pruritus	32–55%	Yes
Sleep disruption	22–39%	No
Systemic immediate hypersensitivity reaction	21–28%	Yes †
Retained primary dentition	20–33%	Yes
Lower GI symptoms	14–90%	Yes
Systemic venom reaction	14–22%	Yes
Congenital skeletal abnormality	11–26%	No
GI food sensitivity	0–39%	No
Joint Hypermobility	0–28%	No

Symptoms validated in well-controlled or unselected populations are shown in bold ^{13, 14, 30}

^*Rarely BST among individuals with 2α3β genotypes have been reported with BST as low as 6.5 ng/mL, however this genotype may result from increased β-tryptase encoding copy number, which is not associated with inherited elevations in BST and has not been observed in Mendelian family studies. GI – gastrointestinal.

^†Associated with idiopathic anaphylaxis and prevalence of anaphylaxis in patients with systemic mastocytosis.