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When analyzing our combined cohorts, dysphagia (p=0.007) and retained primary dentition (p=0.0003) were significantly associated with HαT, while positive associations with anaphylaxis (P=0.07) and pruritus (P=0.5) did not reach significance likely due to limited sample size. Clinical features of individuals with and without HαT were compared. Genotyping of individuals with hypermobility spectrum disorder (HSD)(N=132), hypermobile Ehlers-Danlos syndrome (hEDS)(N=78) or axial skeletal abnormalities with hypermobility (n=56) was performed. Hypermobility disorders are likewise frequently AD, but genetic etiologies are often elusive. HαT affects 5-7% of Western populations and has been associated with joint hypermobility.
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Hereditary alpha-tryptasemia (HαT) is an autosomal dominant (AD) genetic trait characterized by elevated basal serum tryptase (BST) ≥8 ng/mL, caused by increased α-tryptase-encoding TPSAB1 copy number.
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However, these findings have largely been reported among populations of individuals highly selected for comorbid conditions such as these, leading to potential referral or ascertainment biases. It has been associated with symptoms suggestive of mast cell-mediator release as well as a number of multisystem complaints, notably certain congenital connective tissue abnormalities including joint hypermobility, scoliosis, retained primary teeth, and less commonly, nail/patella syndrome, ankle protonation, valgus deformity, neonatal clubbing without cardiopulmonary disease, webbed neck, torticollis, club feet, hip dysplasia, pectus excavatum, high arched palate, syndactyly, genus valgus, pes planus, tibial torsion, hyperlordosis, and alveolar mandibular hypoplasia. HaT is caused by increased a-tryptase encoding TPSAB1 copy number on a single allele and is common among Caucasians, affecting 5% to 7% of the Western populations in which this has been studied. It may modify the expression of multifactorial allergic diseases rather than directly cause specific phenotypes. The diagnosis should be considered when basal MCT is ≥8ng/ml. Some immediate family members with the same genetic trait and high basal MCT were asymptomatic.įive percent of people in the UK may have HAT. However, clinical manifestations were not more common in patients with gene triplications or quintuplications than in those with duplications.
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In 70 patients confirmed to have HAT (79% with a duplication 21% with a higher alpha- gene copy number), urticaria/angioedema (51%), skin flushing (41%), food intolerances (39%) and altered bowel habits (36%) were common presenting complaints. Basal MCT of ≥8.0ng/ml were also found in 5% of the 4,283 individuals referred for MCT testing because of clinical symptoms. Baseline MCT concentrations and clinical presentation were also assessed in 4,283 samples sent to a regional immunology laboratory.ĭuplication in alpha- copy number was present in 5% of the unselected British birth cohort, with all affected individuals having a basal MCT of ≥8.0ng/ml. To study the clinical disease spectrum of HAT and determine its UK prevalence.ĭroplet digital PCR was used to determine TPSAB1 copy number in 432 DNA samples from an unselected UK birth cohort and in 70 patients referred with a basal MCT >8ng/ml. Basal serum mast cell tryptase is typically ≥8.0ng/ml. Hereditary Alpha-Tryptasemia (HAT) is a genetic trait caused by an increased alpha-tryptase TPSAB1 gene copy number.