HEREDITARY ALPHA TRYPTASEMIA

What is Tryptase

Tryptase is a protein enzyme predominantly found in mast cells, which are part of the immune system and play a role in allergic reactions. It's a key marker for mast cell activation and can be measured in blood to help diagnose and monitor mast cell disorders like anaphylaxis carpa and mastocytosis. Tryptase be easily measured by a blood test, especially after specific 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 they also 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, regardless of the presence of a reaction.

Hereditary alpha tryptasemia

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 found in possibly up to 6 percent of the general population. This indicates that millions of people may carry multiple copies of the alpha tryptase gene, so it's not surprising that some individuals will have more than one explanation for their symptoms. It should also be emphasized that there is significant variability among individuals regarding which symptoms duplications or triplications do or do not cause.

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. Symptoms may include skin itching,(pruritus) flushing, hives, and anaphylaxis; gastrointestinal (GI) symptoms such as bloating, abdominal pain, diarrhea and/or constipation (frequently diagnosed as irritable bowel syndrome or IBS),

What is Hereditary alpha tryptasemia Symptoms

Also difficulty swallowing; connective tissue symptoms such as hypermobile joints and scoliosis; cardiac symptoms such as a racing or pounding heartbeat or blood pressure, chronic pain, and others. As this is a genetic syndrome, families might have similar or related symptoms; however, others may have few, if any, symptoms.

Hereditary alpha tryptasemia: other symptoms

Chronic skin flushing, itching, or hives
Bee sting allergy
Chronic joint pain
Skeletal abnormalities
GI disturbances, including IBS, and numerous food and drug reactions and intolerances
Sleep disturbances/ insomnia