What is Systemic Mastocytosis?

Systemic mastocytosis, also known as clonal mast cell disease, is a disorder that produces a vast number of mast cells present in the white blood cells that accumulate and build up in the body. Many mast cells accumulate in the skin, digestive tract, bone marrow, or other essential organs. The white blood cells are present in the tissues and are connected to the whole body. They boost immune effectiveness and enhance performance in the protection from diseases. They are also responsible for the quick healing of wounds and repairing tissues.  Substances like spicy food, medications, stings, or even alcohol can trigger mast cells, causing symptoms similar to that of an allergy or inflammation that could be detrimental as it might result in the damage of some organs. These triggers can disperse histamine chemicals that lead to itching alongside flushing the neck, chest, and face. Severe cases of systemic mastocytosis are dangerous as it affects the working capabilities of some organs. Sometimes, the white blood cells might prompt a reaction known as anaphylaxis, which tends to be life-threatening, and medical aid is required immediately.   Picture Courtesy: ask hematologist

What are the Types of Systemic Mastocytosis?

Two types of mastocytosis vary based on the occurrence and age group. Picture Courtesy: Osmosis

• • • Cutaneous

The cutaneous mastocytosis symptoms are indicated only on the skin, mainly in children. When this mast cell accumulates in the skin, it evolves lesions, either red or brown lesions that itch. Cutaneous mastocytosis is not a fatal condition as it is not a life-threatening situation. Though, some persons with certain symptoms can have a more detrimental allergic reaction which can be fatal.

• • • Systemic

Systemic mastocytosis occurs majorly in adults, and it affects different organs of the body apart from the skin, unlike the cutaneous.  For systemic mastocytosis, the accumulation of mast cells occurs in the organs like the intestine and bone marrow. The severity of the systemic mastocytosis determines the fatality of the disorder, as in extreme cases, the condition is a life-threatening situation. There are two rare forms of systemic mastocytosis, and they are listed below:

i. Mast Cell Leukemia

This form of systemic mastocytosis is an aggressive form as it is characterized by the disease in which the accumulation of the mast cells occurs in the bone marrow and the blood.

ii. Mast Cell Sarcoma

The mast cell sarcoma evolves due to the presence of a tumor due to the build-up of the mast cell. This tumor can form anywhere in the body apart from the skin. As stated previously, systemic mastocytosis occurs mostly in adults aged 40 to 60 years. The presence of systemic mastocytosis causes some triggers that can disperse chemicals in the body, leading to inflammation and other symptoms. Also, having symptoms without triggers is possible. 

What are the most common factors that can trigger the symptoms of systemic mastocytosis?

The triggers are not the same for all patients, but the common triggers that could lead to symptoms are:

1. 1. 1. Spicy food intake.
      2. Intake of alcohol.
      3. Stress.
      4. Vaccines.
      5. Anxiety.
      6. Stings from insects.
      7. Surgery.
      8. Temperature change.
      9. Nonsteroidal anti-inflammatory drugs (NSAIDs).
      10. Friction on the skin.
      11. Exercising.

What are the most common complications associated with Systemic Mastocytosis?

Complications associated with systemic mastocytosis are briefly explained below:

• • • Blood Disorders

Systemic mastocytosis can lead to irregularities in the bloodstream by either clotting the blood or resulting in anemia.

• • • Organ Failure

Due to the build of the mast cells in some organs in the body, the chemicals released can cause inflammation, damaging affected organs and causing them to fail.

• • • Anaphylactic Reaction

This extreme allergic reaction has symptoms like loss of consciousness, rapid heart rate, shock, and frequent fainting. Though, epinephrine is injected as a solution to this case.

• • • Reduction in Bone Density

Problems like osteoporosis can be encountered since systemic mastocytosis affects the bone marrow.

• • • Peptic Ulcer Disease

Inflammation and irritation in the stomach can lead to bleeding and even ulcers in the digestive tract.

How is Systemic Mastocytosis Diagnosed? 

Processes used for the diagnosis of systemic mastocytosis are explained below:

• • • Bone Marrow Biopsy

The doctor removes a sample of the bone marrow with a needle, and a hematologist gets the sample and examines the quantity of mast cells present and other signs of a blood condition.

• • • Skin Biopsy

In this case, a sample is also extracted from the skin tissue for examination, where the technicians view the tissues with the aid of a microscope to observe any accumulation that might present itself in the mast cells.

• • • Blood and Urine Tests

Blood is taken from the patient alongside a urine sample to check for the presence of chemicals or substances associated with mast cells. Then, a test known as the “Complete Blood Count” can be used to diagnose anemia or any blood condition.

• • • Imaging Test

Conducting an x-ray, computed tomography (CT) scan, or ultrasound helps detect any problem associated with the bone or increase in the size of the spleen, lymph nodes, or liver which are symptoms of systemic mastocytosis.

• • • Genetic Test

The KIT gene is the main concentration, as alterations are looked out for by collecting blood, tissue, and bone marrow samples.

• • • Endoscopy or Colonoscopy

A flexible tube small in diameter with a camera attached to the end is inserted into the mouth or rectum to check for bleeding, ulcers, or accumulation in the digestive tract.

How is Systemic Mastocytosis treated?

The treatment option for systemic mastocytosis is primarily for symptoms. There is no cure for this disorder. Treatment modalities include medications such as 

• • • Epinephrine

This involves the injection of epinephrine into the patient experiencing anaphylaxis as a symptom.

• • • Antihistamine

Antihistamine medication is used for patients when the histamine chemicals are released due to the accumulation of the mast cells. These drugs ease reactions on the skin like itching and flushing. Also, doctors can use it for patients with digestive tract symptoms.

• • • Mast Cell Stabilizers

Mast cell stabilizers include cromolyn sodium and ketotifen, and they hinder the dispersion of the histamines.

• • • Proton Pump Inhibitors

These are medications responsible for preventing stomach acid and easing digestive congestion.

• • • Targeted Therapy

These medications seek a specific gene, tissue, or protein and block them. This therapy is used for severe and life-threatening cases of systemic mastocytosis.

• • • Steroids

Steroids can also be used for cases like anaphylaxis and aid with nasal, skin, and respiratory symptoms experienced by a patient.

• • • Chemotherapy

When the disorder is fast-growing and might damage affected organs soon, chemotherapy drugs should be administered either through the oral route or the IV (intravenous) route to kill cancerous cells in the body.

• • • Stem Cell Transplant or Bone Marrow

This is a surgical procedure that is rarely used. In this case, the cells of the bone marrow are replaced with new bone marrow or stem cells. What is the mortality rate of systemic mastocytosis? The life expectancy of a patient diagnosed with systemic mastocytosis ranges from the indolent stage with a median survival of 198 months. However, a median survival rate with aggressive systemic mastocytosis is 41 months and with systemic mastocytosis with associated hematological non-mast cell disorder is 24 months.  

Symptoms

What are the most common symptoms associated with systemic mastocytosis?

Picture Courtesy: health awareness

The symptoms of systemic mastocytosis depend on the severity and extra abnormal mast cell present in the body. These symptoms are:

• • • Blisters on the skin are mainly for children.
    • Nasal congestion.
    • Reduction in blood pressure.
    • Vomiting.
    • Nausea.
    • Blotches on skin.
    • Flushing.
    • Pain in the bone.
    • Irregularities in a heartbeat.
    • Anemia.
    • Headache.
    • Fatigue.
    • Osteoporosis
    • Increase in size of the spleen, lymph nodes, or liver.

Causes

What are the most common causes of systemic mastocytosis?

Due to the origin of systemic mastocytosis, the disorder has been considered hereditary, but this conclusion is wrong. Systemic mastocytosis is not a hereditary condition. 

Systemic mastocytosis is caused by a haphazard alteration or mutation of the KIT gene in the body. This alteration tends to occur mainly after conception. The KIT gene is responsible for the growth of the cells in the body attributed to the regulation of the protein in this cell. Therefore, they are partially responsible for the way the mast cells grow.

Overview of Systemic Mastocytosis

Picture Courtesy: Pininterest

 

FAQ

How common is systemic mastocytosis?

Mastocytosis is a rare disorder as it affects one in every 20,000 people.

Who does mastocytosis affect?

Mastocytosis affects every age group, but systemic mastocytosis occurs only in adults, while the cutaneous affects only children. It is not gender-selective as it affects both genders equally.

How can you prevent systemic mastocytosis?

Systemic mastocytosis is a genetic disorder. Therefore, there is no prevention, but if the patient is diagnosed with the disorder, one can prevent an outbreak by consulting a doctor to prescribe prescriptions that could curb triggering to make it severe.

Is systemic mastocytosis hereditary?

The disorder is associated with the gene but is not hereditary. It results from mutation or change in a specific gene known as the KIT gene.

Between the systemic mastocytosis and the cutaneous mastocytosis, which is more severe?

Systemic mastocytosis is a more life-threatening situation as people diagnosed with aggressive systemic mastocytosis survive just for a few years or a little longer with antihistamines and drugs that could prevent triggers.

Can systemic mastocytosis turn into leukemia?

Systemic mastocytosis can turn into cancer (leukemia). The risk of systemic mastocytosis becoming cancerous is 7% when the disease begins in childhood and around 30% in adults. 

Is systemic mastocytosis an autoimmune disease?

Yes, systemic mastocytosis is an autoimmune disorder in which the mast cells grow abnormally and can cause a wide range of symptoms.

Is systemic mastocytosis associated with hematologic neoplasm?

Yes, systemic mastocytosis is associated with hematologic neoplasm.