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Disease Profile

Hereditary alpha tryptasemia syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Hereditary alpha tryptasemia syndrome is a condition characterized by high blood tryptase levels, and by several symptoms associated with multiple organ systems. These symptoms may include allergic-like symptoms (skin itching, flushing, hives, or anaphylaxis); gastrointestinal symptoms such as bloating, abdominal pain, diarrhea and/or constipation (often diagnosed as irritable bowel syndrome), heartburn, reflux, and difficulty swallowing; connective tissue symptoms such as hypermobile joints and scoliosis (often diagnosed as Ehlers-Danlos syndrome, hypermobile type); heart symptoms such as a racing or pounding heartbeat or blood pressure swings sometimes with fainting (frequently diagnosed as postural orthostatic tachycardia syndrome (POTS); as well as behavioral problems.[1][2] 

The term “hereditary alpha tryptasemia” refers to the trait of having inherited extra copies of the alpha tryptase gene (TPSAB1), which leads to increased blood levels of trypase. Tryptase is a protein made primarily by mast cells (cells that contribute to allergic responses). When people with hereditary alpha tryptasemia have symptoms the conditions is known as “hereditary alpha tryptasemia syndrome”. People who have few or no symptoms are said to have the trait, and not the syndrome. Treatment is aimed at addressing the specific symptoms and may include anti-allergy medications.[1][2]

Please visit the National Institute of Allergy and Infectious Diseases to learn more:
Hereditary Alpha Tryptasemia and Hereditary Alpha Tryptasemia Syndrome FAQ

References

  1. Hereditary Alpha Tryptasemia and Hereditary Alpha Tryptasemia Syndrome FAQ. National Institute of Allergy and Infectious Diseases. October 17, 2016; https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq.
  2. Lyons JJ & cols. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. December, 2016; 48(12):564-1569. https://www.ncbi.nlm.nih.gov/pubmed/27749843.