Systemic Mastocytosis – Symptoms and Causes
Overview
Systemic mastocytosis happens when too many mast cells build up in the body. Mast cells are white blood cells found in connective tissues that help the immune system work properly.
In this condition, extra mast cells gather in the skin, bone marrow, digestive system, or other organs. When triggered, these cells release substances that cause symptoms like allergic reactions.
In some cases, the inflammation can be severe enough to damage organs.
Symptoms
Systemic mastocytosis causes various symptoms depending on where excess mast cells accumulate in the body. These cells commonly build up in the skin, liver, spleen, bone marrow, and intestines, though they may sometimes affect the brain, heart, or lungs.
Common symptoms include:
- Skin reactions (flushing, itching, hives)
- Digestive problems (stomach pain, diarrhea, nausea, vomiting)
- Blood issues (anemia, bleeding problems)
- Pain in bones and muscles
- Enlarged liver, spleen, or lymph nodes
- Mental health changes (depression, mood swings, concentration difficulties)
These symptoms occur when mast cells release substances that cause inflammation. Different people have different triggers, including:
| Common Triggers |
|---|
| Alcoholic beverages |
| Skin irritation |
| Spicy foods |
| Physical exercise |
| Insect stings |
| Certain medications |
When to Seek Medical Help
If you experience frequent flushing or hives, or any of the symptoms listed above, consult a healthcare provider for proper evaluation.
Causes
Systemic mastocytosis develops when a random mutation occurs in the KIT gene. This genetic change is typically not inherited. The mutation leads to excessive production of mast cells that accumulate in various tissues and organs throughout the body.
When too many mast cells build up, they release substances like histamine, leukotrienes, and cytokines. These chemicals trigger inflammation in the body, resulting in the various symptoms associated with the condition.
Complications
Systemic mastocytosis can lead to several health problems due to the abnormal build-up of mast cells throughout the body. These complications can range from mild to potentially life-threatening.
Severe allergic reactions may occur in people with this condition. These reactions can include rapid heartbeat, fainting, loss of consciousness, and even shock. Emergency treatment with epinephrine may be necessary in these situations.
Blood-related problems can develop, including:
- Anemia (low red blood cell count)
- Poor blood clotting ability
The digestive system often suffers from systemic mastocytosis. Digestive tract damage may include chronic stomach irritation that leads to ulcers and bleeding. This can develop into peptic ulcer disease that requires medical management.
Bone health issues are common since the condition affects bone marrow and bone tissue. Patients may experience:
- Reduced bone density
- Increased risk of osteoporosis
- Greater chance of fractures
When mast cells accumulate in vital organs, they can cause organ inflammation and damage. This inflammation may progress to organ failure in severe cases, particularly affecting:
- Liver
- Spleen
- Lymph nodes
The treatment approach depends on which complications are present and their severity. Regular monitoring by healthcare providers helps catch these problems early. Some patients need specialized care from multiple specialists to manage the various complications that can arise.
People with systemic mastocytosis should wear medical alert identification and carry emergency medications if prescribed. They should also learn to recognize early signs of complications and seek immediate medical attention when necessary.
