Systemic Mastocytosis

Systemic mastocytosis is a rare condition where your body has too many mast cells. Mast cells are a type of white blood cell, a part of your immune system, that are normally found in tissues throughout your body. Their job is to help protect you from infections.

In systemic mastocytosis, these extra mast cells gather in places like your skin, bone marrow, digestive system, or other organs. When something triggers these extra mast cells, they release chemicals. These chemicals can cause symptoms like those of an allergic reaction, ranging from mild discomfort to more serious inflammation that can damage organs. Things that can trigger these mast cell reactions include alcohol, spicy foods, insect bites, and some medicines.

Systemic mastocytosis happens when your body has too many mast cells. These cells are part of your immune system, and they release substances that cause inflammation and various symptoms. Where these extra mast cells build up in your body determines the problems you might experience.

The extra mast cells can gather in different places: the skin, liver, spleen, bone marrow, or intestines. Sometimes, the buildup affects other organs like the brain, heart, or lungs.

Common signs and symptoms include:

• Skin problems: Redness (flushing), itching, or hives (rashes).
• Digestive issues: Belly pain, loose stools (diarrhea), feeling sick to your stomach (nausea), or throwing up (vomiting).
• Blood problems: A lower than normal red blood cell count (anemia), or problems with bleeding.
• Bone and muscle pain: This can range from mild aches to more severe pain.
• Swollen organs: Your liver, spleen, or lymph nodes might become enlarged.
• Mood changes: Feeling depressed, having changes in your mood, or difficulty concentrating.

These symptoms occur because the extra mast cells are releasing substances that cause inflammation. Different things can trigger these mast cells to release these substances in different people. Common triggers include:

• Alcohol
• Skin irritations (like rubbing or scratching)
• Spicy foods
• Physical activity (exercise)
• Insect bites or stings
• Certain medicines

If you experience any of these symptoms or have concerns about them, it's important to talk to your doctor. Early diagnosis and treatment can help manage the condition and improve your quality of life.

Many cases of systemic mastocytosis happen because of a mistake (mutation) in a gene called KIT. This mistake usually isn't passed down from parents to children. When the KIT gene is flawed, the body makes too many mast cells. These extra mast cells gather in tissues and organs. Mast cells release chemicals like histamine, leukotrienes, and cytokines. These chemicals cause inflammation and the symptoms of the condition.

Systemic mastocytosis can cause various health problems. Here are some potential complications:

• Severe allergic reactions (anaphylaxis). This is a serious allergic response. Symptoms can include a fast heartbeat, dizziness, fainting, loss of consciousness, and a life-threatening condition called shock. If you have a severe allergic reaction, you might need a shot of epinephrine (adrenaline) to help manage it.

• Blood problems. Systemic mastocytosis can sometimes affect the production of healthy blood cells. This can lead to conditions like anemia (low red blood cell count), which makes you feel tired and weak, and problems with blood clotting.

• Stomach ulcers. The buildup of mast cells can irritate the lining of the stomach, potentially leading to ulcers (sores) and bleeding in the digestive tract. This can cause pain and discomfort.

• Weakened bones. Systemic mastocytosis can impact the bones and bone marrow. This can increase the risk of osteoporosis, a condition where bones become thin and fragile, making them more prone to breaks.

• Organ damage. If mast cells accumulate in organs, it can cause inflammation and damage. This can affect the function of the organ, potentially leading to organ failure. This means the affected organ might not be able to do its job properly.

Diagnosing Systemic Mastocytosis

Doctors diagnose systemic mastocytosis by first learning about your symptoms and medical history, including any medications you've taken. They'll then likely order tests to check for high levels of mast cells or the substances these cells produce. They might also examine organs that seem affected by the condition.

These tests can include:

• Blood and urine tests: These tests help measure different substances in your blood and urine, which can provide clues about the presence and severity of mastocytosis.
• Bone marrow biopsy: A sample of bone marrow (the soft tissue inside bones) is examined under a microscope to look for an excess of mast cells.
• Skin biopsy: A small piece of skin is taken and examined for mast cells.
• Imaging tests: X-rays, ultrasounds, bone scans, and CT scans can help visualize organs and identify any problems.
• Biopsy of affected organs: If the doctor suspects a specific organ is affected, a small sample of that organ tissue may be taken for examination.
• Genetic testing: This can help identify specific genetic changes that may be linked to mastocytosis.

Different Types of Systemic Mastocytosis

Systemic mastocytosis comes in several forms:

• Indolent systemic mastocytosis: This is the most common type. It usually doesn't cause problems with organs. Skin symptoms are often present, but other organs might also be affected. The condition typically progresses slowly over time.

• Smoldering systemic mastocytosis: This type often has more noticeable symptoms than indolent mastocytosis. It may affect organs and can worsen over time.

• Systemic mastocytosis with another blood or bone marrow disorder: This is a serious type that develops quickly and often leads to organ problems and damage.

• Aggressive systemic mastocytosis: This rare type has severe symptoms and usually results in progressive organ damage.

• Mast cell leukemia: This is a very rare and aggressive form of the disease.

Systemic mastocytosis is more common in adults. A different type of mastocytosis, called cutaneous mastocytosis, is more common in children. Cutaneous mastocytosis typically only affects the skin and usually doesn't develop into systemic mastocytosis.

Mayo Clinic Care

Mayo Clinic's experienced team is ready to help you with any concerns you have about systemic mastocytosis. You can find more information and resources on their website.

Systemic mastocytosis treatment varies based on the specific type and affected body parts. The goal of treatment is to manage symptoms, address the disease itself, and closely watch its progress.

Managing Symptoms:

One key aspect of treatment is identifying and avoiding things that trigger mast cell activity. This could include certain foods, medicines, or insect bites. Avoiding these triggers can help keep symptoms under control.

Medications:

Doctors might prescribe various medications to help:

• Reduce symptoms: Antihistamines can help with some symptoms.
• Ease digestive issues: Medications can help reduce stomach acid and discomfort.
• Control mast cell release: Corticosteroids can counteract the effects of substances released by overactive mast cells.
• Limit mast cell production: Some medications target a specific gene (KIT) to decrease the number of mast cells produced.

Your doctor may also teach you how to use an epinephrine (adrenaline) injection if you have a severe allergic reaction triggered by your mast cells.

More Aggressive Cases:

If systemic mastocytosis is severe, or if it's linked to another blood disorder or mast cell leukemia, chemotherapy may be used to decrease the number of mast cells.

Advanced Cases:

For the most advanced form, called mast cell leukemia, a stem cell transplant might be considered.

Ongoing Monitoring:

Regular check-ups are crucial. Your doctor will use blood and urine tests to track the disease's progress. In some cases, you might be able to collect samples at home using a special kit, especially if you're experiencing symptoms. This provides a more detailed picture of how the condition is affecting your body. Your doctor will also monitor your bone density to check for problems like osteoporosis.

Living with a condition like systemic mastocytosis can be tough. It takes a lot of energy and can be stressful. Here are some ways to cope:

Understanding the Condition: Learning everything you can about systemic mastocytosis is key. The more you know, the better decisions you can make about your care and the better you can advocate for yourself. Explain the condition, the necessary care, and any safety precautions to your family and friends. This helps them understand and support you.

Building a Support Team: Managing this condition often requires important medical decisions. Finding a team of healthcare professionals specializing in systemic mastocytosis is crucial. These specialists can provide information, advice, and support to help you manage your care effectively. They are experts in the condition.

Connecting with Others: Talking to people who have similar experiences is incredibly helpful. Sharing stories and experiences can provide practical information and emotional support. Ask your doctor about support groups in your area. If a group isn't the right fit, your doctor might connect you with someone who understands the challenges of systemic mastocytosis. Online support groups or individuals can also be valuable resources.

Reaching Out for Help: Don't be afraid to ask for help from family and friends. It's okay to accept assistance when you need it. This shared support is important.

Prioritizing Self-Care: Make time for things you enjoy. Keeping up your interests and hobbies is essential for maintaining your well-being. If you're having trouble adjusting or coping with the condition, talking to a therapist or counselor can provide helpful strategies and support. This can help you manage stress and improve your overall mental health.