Do you constantly itch your body? Does it turn red? Let's learn about this rare disease (Systemic Mastocytosis)

Do you also get itchy all over your body from time to time? Does your face and neck suddenly turn red and feel like you're getting a hot flush? Do you have a stomach ache, dizziness, and a racing heart? Even if you think these things are just allergies, sometimes there may be a different condition behind this, one that we haven't heard much about. Today we're talking about one such rare disease, Systemic Mastocytosis. Don't worry, let's understand this simply.

What is systemic mastocytosis?

Simply put, this is a disease caused by an abnormal increase in a type of cell called 'mast cells' in our body. Mast cells are a type of white blood cell. Think of these mast cells as soldiers in our immune system. Their main job is to protect us from diseases and help us heal when we are injured . But in this disease, these mast cells accumulate in excess and abnormally in various organs such as our skin, bone marrow , bones, and intestines. What happens then? Due to some trigger, these excess mast cells suddenly become active and release a large amount of chemicals like 'histamine' into the body. That's when the symptoms I mentioned earlier, such as flushing, itching, and eczema , appear.

What causes this disease?

Many people think that this is a hereditary disease. But this is not usually a hereditary disease. Most of the time, it is caused by a random mutation in a gene called KIT in our mast cells. This gene helps make a protein that controls cell growth. So when this changes, mast cells start to grow uncontrollably. Although these symptoms can appear at any age, they are most common in older age, especially between the ages of 40 and 50 .

Triggers that aggravate symptoms

Not everyone with this disease experiences the same symptoms. Also, the triggers that trigger the symptoms can vary from person to person. However, some of the common triggers are listed in the table below. It is important to be aware of these. It is also important to remember that sometimes symptoms can appear without any particular reason.

What are the main types and symptoms of this disease?

There are five main types of Systemic Mastocytosis. Your doctor will test you and tell you which type you have.

• Indolent Systemic Mastocytosis (ISM): This is the most common and less severe type. The disease progresses slowly and does not cause significant organ damage.
• Smoldering Systemic Mastocytosis (SSM): Slightly more severe than ISM. Symptoms are more severe and can affect organs over time.
• Systemic Mastocytosis with an Associated Hematological Neoplasm (SM-AHN): In this case, mastocytosis is accompanied by another blood-related disease (e.g. leukemia ).
• Aggressive Systemic Mastocytosis (ASM): This type grows rapidly and can damage organs such as the liver, spleen, and bones.
• Mast Cell Leukemia (MCL): This is the rarest and most severe type. There are large numbers of mast cells in the bone marrow and blood.

The symptoms you experience depend on the type of disease you have and where in your body the abnormal mast cells are most concentrated. Here are some common symptoms:

• Itching, rash , flushing
• Stomach pain, bloating, diarrhea
• Nausea or vomiting
• Headache and fatigue
• Rapid heartbeat
• Low blood pressure, dizziness, loss of consciousness
• Swelling of the liver, spleen, and lymph nodes
• Anemia and bleeding conditions
• Weakening of bones (Osteoporosis)
• Mentally, conditions such as difficulty concentrating, frequent anxiety, or depression.

How to diagnose the disease? (Diagnosis)

Your doctor will first ask you about your symptoms and perform a physical exam. Then, they may recommend several tests to confirm the diagnosis:

• Skin biopsy: A small piece of skin is taken from an affected area and examined under a microscope to see if there are many mast cells.
• Bone Marrow Biopsy: A hematologist uses a thin needle to take a small sample of your bone marrow and examine it.
• Blood and urine tests: These check for chemicals related to mast cells in the blood or urine. A complete blood count can also check for other conditions, such as anemia.
• Genetic Test: A blood or tissue sample is tested to see if there are any changes in the KIT gene mentioned earlier.
• Imaging tests: X-rays, ultrasounds, and CT scans can help detect bone weakness and swelling of organs like the liver and spleen.
• Endoscopy or Colonoscopy: A thin tube with a camera attached to it is used to examine the inside of the stomach or intestines to check for any abnormalities, such as ulcers.

What are the treatments?

The doctor will determine the treatment plan based on your symptoms, the organs affected, and the type of disease.

• Antihistamines: These medications help control things like skin itching, redness, and stomach upset.
• Epinephrine: A hormone used in the event of a severe allergic reaction (anaphylaxis).
• Proton Pump Inhibitors: Control stomach acid and reduce things like stomach inflammation.
• Mast Cell Stabilizers: Medications that stop the release of histamine from mast cells.
• Steroids: Can help with skin and respiratory symptoms.
• Targeted Therapy: Drugs that target a specific gene or protein involved in the disease. These may be needed for people with severe symptoms.
• Chemotherapy: This treatment may be necessary in cases where the disease is spreading rapidly and causing severe organ damage.
• Stem Cell Transplant: A treatment option considered in very rare cases.

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