A health condition that occurs when mast cells (cells that protect your body from allergens and bacteria) mutate and cause an allergic response is called mastocytosis. The symptoms of this condition range from mild to severe, and most people treat it with medicines and by avoiding the triggers.
Furthermore, mast cells are a part of the immune system that protect the body from viruses, parasites, bacteria, and other germs that can make you ill. In people with mastocytosis, the body produces too many mast cells. In addition, mast cells also help produce stomach acid, and they release histamine when they react to intruders.
Normally, people have multiple mast cells throughout the body, including in the skin, bone marrow, lungs, lining of the intestine, and other parts of the body. These cells usually stop reacting when they have taken care of intruders. In people with this condition, mast cells multiply and begin to build up in the body. As a result, the body overreacts to allergens due to an increased level of histamine.
People who develop mastocystosis are also at increased risk of developing a life-threatening complication called anaphylaxis. This condition cannot be cured. That’s why the treatment goal is to relieve the symptoms and prevent life-threatening complications.
Types of Mastocytosis
Doctors have divided this condition into 2 categories. For example:
- Cutaneous mastocytosis – This type of condition often affects infants and toddlers, but sometimes may also occur in adults. In such cases, the abnormal mast cells build up in the skin, which can cause itchy sores that are often red or dark red, brown, or a combination of red and brown.
- Systemic mastocytosis – This type mostly affects adults. It causes a buildup of mast cells in the bone marrow, bones, digestive system, and lungs. As a result, it negatively affects organ function, where they begin to accumulate. For instance, a buildup of mast cells in the bone marrow can cause reduced blood cell production.
Generally, this condition occurs quite rarely and affects about 1 in 10,000 to 20,000 people.
Symptoms
Usually, people experience the following symptoms. Examples include:
- Bone pain
- Fainting
- Anxiety
- Itchy bumps on the skin
- Flushing
- Diarrhea
- Headaches
- Lightheadedness (often caused by a drop in blood pressure)
- Joint pain
- Red or brown patches on the skin
If you or your child has any of the previous symptoms, immediately contact your healthcare professional. Otherwise, there is an increased risk of developing anaphylaxis.
Causes and Triggers
This is an acquired genetic disorder. It means you do not inherit it from your biological parents during pregnancy. It occurs when KIT genes mutate (change). These genes play an important role in the development of certain cell types, including blood cells and mast cells (white blood cells). In people with mastocytosis, these blood cells begin to multiply abnormally and build up in different parts of the body.
In general, there are multiple triggers of mastocytosis, but not everyone who develops this condition will react the same way. Check some examples below:
- Certain medicines – These include nonsteroidal anti-inflammatory drugs (NSAIDs), muscle relaxers, and anesthesia.
- Sudden changes in temperature, like jumping into very cold water
- Physical or emotional stress
- Alcoholic beverages
- Some foods (such as spicy foods)
- Physical activity
- Something that touches or rubs your skin, causing friction
What Are The Potential Complications of Mastocytosis?
Those who develop mastocytosis may also experience some complications, especially if they do not manage it. Check some of them below:
- Anaphylaxis – This is a severe allergic reaction that is often caused by stress, temperature changes, alcohol, or medicines.
- Gastrointestinal (GI) issues – These include severe abdominal (belly) pain, nausea, peptic ulcers caused by excessive acid production, diarrhea, and others.
- Organ damage and dysfunction – Sometimes, mast cells may build up in certain organs, including the liver, spleen, and lymph nodes.
- Bone and musculoskeletal problems – For example, reduced bone density (including osteopenia and osteoporosis) and an increased risk of bone fractures.
- Hematologic (blood) disorders – People with mastocytosis may also develop anemia (low red blood cell count) and impaired blood clotting.
- Neurocognitive symptoms, such as difficulty concentrating, short-term memory, depression, anxiety, irritability, and others.
- Skin problems (including chronic itching, hives, and urticaria pigmentosa)
The previous list does not contain all possible complications of mastocytosis. However, you can reduce the risk or even prevent some of the previous complications. For more details, discuss it with your doctor. Furthermore, there is no way to prevent mastocytosis because it is a genetic disorder. However, you can take steps to prevent flare-ups. For example, to carry an Epinephrine injection to prevent an anaphylactic shock.
Diagnosis
Most of the time, the diagnosis begins with a physical examination to check for irregularities linked to the disease. They may also ask some questions about your medical history and the symptoms you experience. In any case, to confirm or exclude mastocytosis, doctors perform the following tests and procedures. Examples include:
- Blood tests – These tests are used to determine the levels of Tryptase in the blood. Normally, Tryptase is an enzyme released by mast cells when they find intruders.
- Bone scan – Doctors may perform some imaging tests to check for bone damage.
- Bone marrow biopsy – During this procedure, doctors will take a sample of bone marrow for testing. They will check for the number of abnormal mast cells in the bone marrow.
- Genetic tests – Most people with systemic mastocytosis have mutated KIT genes in the blood.
Treatment
Physicians usually prescribe different treatments for people with mastocytosis because they depend on some factors. These include the type and severity of the condition, existing health problems, gender, age, and preferences. Check below some treatments often used to relieve the symptoms and prevent life-threatening complications:
- Antacids (H2 blockers) to treat stomach problems
- Antihistamines to reduce itching, flushing, and other skin reactions
- Bisphosphonates for osteoporosis
- Corticosteroids to reduce inflammation
- Monoclonal antibodies (such as Omalizumab)
- Pain relievers
- Epinephrine to treat anaphylaxis
- Targeted therapy or chemotherapy to treat mast cells that turn into cancer, although it happens rarely
- Ultraviolet (UV) light to make darkened skin lesions less noticeable
- Allogeneic stem cell (bone marrow) transplantation – This treatment option is recommended for people with advanced or aggressive mastocytosis. However, you should consult with your doctor before choosing this option
Frequently Asked Questions
Is mastocytosis curable?
This condition cannot be cured. That’s why the treatment goal is to reduce the symptoms, prevent serious complications, and improve your quality of life. However, there is a single way to cure mastocytosis, allogeneic stem cell transplantation, but it is not an option for everyone.
Does mastocytosis get worse over time?
People who ignore the symptoms and do not get treatment may notice that their symptoms worsen over time and lead to serious complications. If you have symptoms that resemble mastocytosis, immediately contact your healthcare professional.
At what age does mastocytosis start?
Commonly, the symptoms appear differently among people with mastocytosis because they depend on several factors. These include the type and severity of the condition, overall health, age, and others. For instance, cutaneous mastocytosis mostly affects children, while systemic mastocytosis occurs in adults (especially older adults over 60). If you have any other questions, ask your healthcare provider.
