Are Mast Cell Disorders Hereditary?

All of us have mast cells in our bodies. They play critical roles in keeping us healthy. Mast cells are immune cells located throughout your body. One of their biggest responsibilities is to protect you against infection, which they do through triggering inflammatory and allergic responses. 

Mast cells contain little sacs surrounded by membranes. These membranes hold chemical mediators they release if they come into contact with anything they’ve deemed dangerous, whether it’s a virus or an allergen. 

Sometimes, mast cells can release the chemical mediators incorrectly or too often. When this happens, it’s referred to as a mast cell disorder. Unfortunately, mast cell disorders can often be misdiagnosed as allergic reactions. So, if countless rounds of allergy testing have come back inconclusive, a mast cell disorder could be at play. 

Chad W. Mayer, DO, FAAAAI, FAAP, and the rest of our team at Allergy and Asthma Institute of Southeast Michigan in Farmington Hills, Michigan, are passionate about properly diagnosing and treating diseases such as mast cell disorders. 

Here, we discuss what you need to know about this group of conditions, including how you develop one and how we can help you effectively manage it. 

Understanding mast cell disorders

A mast cell disorder is defined as any condition where mast cells are either releasing chemical mediators incorrectly or growing and accumulating too quickly in a major organ system. The three types of known mast cell disorders are mastocytosis, mast cell activation syndrome (MCAS), and hereditary alpha tryptasemia (HaT). 

Mastocytosis

When you have mastocytosis, too many abnormal mast cells build up throughout your body. The abnormal mast cells continually release histamine, a chemical associated with allergic reactions. As a result, you may be incredibly sensitive to allergens and have very intense and long-lasting allergic reactions because the cells won’t stop releasing chemicals.

MCAS

If you have MCAS, it means mast cells are releasing inappropriately high amounts of chemicals, such as histamine, in response to allergen exposure. This can cause you to have severe allergic reactions, including anaphylaxis, without any clear reason. 

HaT

HaT is a genetic trait that about 8% of the population has. Tryptase is one of the chemicals that mast cells release in response to allergen exposure. If you have HaT, it means you have an extra copy of the alpha tryptase gene. While having this genetic trait doesn’t guarantee you’ll have a mast cell disorder, it certainly increases your risk. 

Have you developed a mast cell disease?

Sometimes, you can be genetically predisposed to a mast cell disease, as stated above, if you have HaT. However, in other cases, the development of a mast cell disease is triggered by changes in KIT genes. 

Mast cell diseases can cause many symptoms. You may experience one or all of them, depending on which disease you have and where the abnormal mast cells are located. Common symptoms of mast cell disorders include:

• Bone and joint pain
• Hives or itchy skin
• Flushing or red patches on your skin
• Feelings of anxiety or confusion
• Lightheadedness and fainting
• Digestive issues such as diarrhea or constipation
• Shortness of breath

Mast cell disease symptoms can also be triggered by a wide range of things that vary from person to person. Commonly reported ones include:

• Extreme changes in temperature
• Insect stings
• Friction on your skin
• Stress
• Hard physical labor or exercise
• Eating certain foods
• Taking certain medications
• Drinking alcohol

Any of these triggers may also lead to anaphylaxis, a severe and life-threatening condition. 

Seek expert-level care with our team

If you suspect that a mast cell disorder is responsible for your symptoms, not allergies, our team is ready to help. We can perform thorough testing to learn what the root cause of your symptoms is and create a customized treatment plan that works best for you. 

To get started, call our office or use our online booking feature today.