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Systemic Mastocytosis – Symptoms, Causes, Complications and Treatment

Overview

Systemic Mastocytosis is a rare health condition where mast cells accumulate in your digestive tract, skin, bone marrow, and other body parts. The buildup of excessive mast cells can cause allergic reactions and inflammation, leading to organ damage.

About Systemic Mastocytosis

Mast cells are a type of white blood cells of myeloid lineage seen in connective tissues. They are responsible for proper functioning of your immune system and protect your body from foreign invaders. Excessive buildup of mast cells releases substances that can cause signs and symptoms similar to those of an allergic reaction. It can lead to organ damage resulting from severe allergic reactions and inflammation.

What are the Symptoms of systemic Mastocytosis?

Mast cells can build up in your intestines, bone marrow, skin, spleen or liver. Less commonly, other organs like lungs, heart or brain also may be affected.

Signs and symptoms of systemic mastocytosis might include:

  1. Itching, lushing or hives
  2. Abdominal pain, vomiting, diarrhea, or nausea 
  3. Bleeding disorders or anemia 
  4. Muscle pain and bone 
  5. Lymph nodes, enlarged liver or spleen 
  6. Depression, mood changes 

When to see a doctor?

You must consult your doctor immediately if you observe any or all of the above symptoms.

In case of hives and flushing or excruciating pain in the abdomen or at the site of itching, seek emergency medical care.

Call 1860-500-1066 to book an appointment

What are the causes of Systemic Mastocytosis?

The below-mentioned conditions can trigger the buildup of mast cells:

  • Excessive alcohol consumption and smoking
  • Consumption of spicy food
  • Insect stings may also cause the production and accumulation of mast cells
  • Exercise or excessive physical activities
  • Stress and anxiety disorders 
  • Certain medications may trigger mast cells buildup.
  • KIT gene mutation: Most of the time, It occurs due to a mutation in a KIT gene that causes the release of toxic substances like histamine, cytokines, and leukotrienes that causes allergic reactions and inflammation

Complications of systemic Mastocytosis:

  • Blood disorders: Systemic Mastocytosis sometimes causes blood disorders like anemia or disruptions in blood clotting in case of any injury. 
  • Reduced bone density: Conditions like osteoporosis get triggered due to the accumulation of mast cells in bone tissues.
  • Anaphylactic reaction: Anaphylactic reaction is an allergic reaction that causes fainting, shock, increased heartbeat, and losing consciousness.
  • Organ failure: severe allergic reactions may sometimes cause organ failure. 
  • Peptic ulcer disease: Peptic ulcer disease can cause bleeding in the digestive tract.

What is the treatment given for systemic Mastocytosis?

There is no treatment for systemic Mastocytosis, but the below-mentioned methods can mitigate the symptoms and provide some relief:

  • UV treatment: Accumulation of mast cells darkens the skin at the site of accumulation. Doctors use UV light treatment to make the darkened skin less noticeable. 
  • Epinephrine: Epinephrine injection can save one’s life in case of shock or anaphylactic shocks. 
  • Chemotherapy: in case of severe mastocytosis conditions, chemotherapy may be suggested. 
  • Medications: A drug called Midostaurin got approved by the US FDA to treat KIT gene mutation. Imatinib gets administered for systemic Mastocytosis without the KIT gene mutation. Mast cell stabilizers, antihistamines, corticosteroid creams, and leukotriene modifiers can mitigate symptoms. Further, they can reduce allergic reactions and inflammation.
  • A stem cell transplant may be an option for people who have an advanced form of systemic mastocytosis called mast cell leukemia.

Conclusion

Although systemic Mastocytosis is rare, children and males and females are susceptible to it in equal proportions. However, discuss with your doctor the factors that are triggering mast cells buildup and avoid triggers. 

Frequently Asked Questions (FAQs)

What is the life expectancy of people with systemic Mastocytosis?

Although people diagnosed with severe systemic Mastocytosis may survive only a few years, early detection can help ineffective treatment and early cure.

Does systemic mastocytosis cause cancer?

Yes. There are chances that it triggers the production of cancer cells hence leading to cancer.

Can systemic Mastocytosis be cured?

Treating it is challenging , as there is no proven treatment or effective medicine. However, the symptoms can be relieved.

What medicines trigger systemic Mastocytosis?

Medicines that include opioids, alcohol, antibiotics, and NSAIDs are the most common examples of medicines that can trigger systemic Mastocytosis.

How is systemic Mastocytosis diagnosed?

Skin biopsy involving removal of the skin tissue for observation through a microscope can suggest any presence of Mastocytosis.

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