What is Tryptase
Tryptase is a protein that can circulate in your bloodstream. It is made primarily by cells that are present around blood vessels and in the bone marrow called mast cells, and it is used largely as a marker for mast cell activation, as it can be easily measured by a blood test, especially after certain allergic reactions
What is a mast cell
A mast cell is a cell that is made in the bone marrow and is associated with allergic reactions; it matures in places like the skin, lungs, and gastrointestinal tract. Mast cells may play a role in protecting us from parasites but also can contribute to allergic responses by releasing molecules such as histamine in response to allergens.
Hereditary alpha tryptasemia
Hereditary alpha tryptasemia can be called a biochemical trait. A trait is simply a characteristic that is caused by a difference in the DNA. In the case of hereditary alpha tryptasemia, people with this trait have inherited extra copies of the alpha tryptase gene (TPSAB1), and this leads to increased levels of trypase protein detected in the blood, whether a reaction is happening or not.
Hereditary alpha tryptasemia Cont...
These duplications are carried on a single chromosome and can be inherited from parent to child. In some cases, both parents can carry the duplication, so that a child could have four copies. In other cases, patients actually carry three copies of TPSAB1 on a single chromosome. It appears that the more copies one inherits, the higher the blood tryptase level.
How common is Hereditary alpha tryptasemia
Elevated serum tryptase is present in perhaps up to 6 percent of the general population. While large studies of multiple different ethnicities need to be done, the estimate is that hereditary alpha tryptasemia may be present in a similar percentage of the general population.
How common is Hereditary alpha tryptasemia cont...
Because that means that there could be millions of people carrying multiple copies of the alpha tryptase gene, it should come as no surprise that some people will have more than one explanation for their symptoms. Again, it must be stressed that there is great variability from person to person in terms of what symptoms the duplications or triplications do or do not cause.
