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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



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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.


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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.
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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.
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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.
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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.
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What is Hereditary alpha tryptasemia Syndrome

In addition to having higher blood tryptase levels, individuals with more alpha tryptase copies also report more shared symptoms. These symptoms can be associated with multiple organ systems and may be hard to explain.

What is Hereditary alpha tryptasemia Syndrome cont..

These symptoms may include allergic-like symptoms such as skin itching, flushing, hives, and even anaphylaxis; gastrointestinal (GI) symptoms such as bloating, abdominal pain, diarrhea and/or constipation (frequently diagnosed as irritable bowel syndrome or IBS), heartburn, reflux, and difficulty swallowing; connective tissue symptoms such as hypermobile joints and scoliosis; cardiac symptoms such as a racing or pounding heartbeat or blood pressure swings sometimes with fainting; as well as anxiety, depression, chronic pain, panic attacks, and others.

What is Hereditary alpha tryptasemia Syndrome cont..

These patients may find that others in their family have similar or related symptoms, as this is a genetic syndrome. Others may have few if any symptoms—and would be said only to have the trait and not the syndrome associated with the trait. In cases such as these, a person may only find out because a relative was more severely affected with the syndrome.

How do I know if I have Hereditary alpha tryptasemia

If you have a blood tryptase level above 10 ng/mL, in particular if another close relative also has a similarly elevated level, you are more likely to have hereditary alpha tryptasemia. However, a wide range of symptoms has been reported among individuals with the associated syndrome, many of which can be rather common, so it is difficult to know who has it from symptoms alone.

How do I know if I have Hereditary alpha tryptasemia cont...

  • Chronic skin flushing, itching, or hives
  • Bee sting allergy
  • Dizziness and/or difficulty maintaining a normal pulse and blood pressure
  • Chronic head, back, and joint pain
  • Skeletal abnormalities
  • GI disturbances, including IBS, and numerous food and drug reactions and intolerances
  • Sleep disturbances
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