Mastocytosis or mastocytosis is a condition when mast cells accumulate in the body. This accumulation can occur in various tissues or organs of the body, such as the skin, bone marrow, or spleen, so the symptoms that arise in the sufferer can vary.

Mast cells are one type of white blood cell . This cell is part of the body's immune system, which will react when foreign objects or germs enter the body.

In mastocytosis, mast cells develop and grow rapidly until they accumulate in the body. This makes mastocytosis sufferers more susceptible to allergic reactions .

Mastocytosis is a rare condition that varies in type and severity. Of the various types, there are two main types of mastocytosis, namely skin mastocytosis and systemic mastocytosis.

The accumulation of mast cells that only occurs in the skin is called skin mastocytosis. While the accumulation that occurs in internal organs, such as the liver, spleen, and bone marrow, is called systemic mastocytosis.

Unlike cutaneous mastocytosis which only occurs in the skin, systemic mastocytosis can occur with or without symptoms in the skin.

Causes and Risk Factors of Mastocytosis

Mastocytosis is caused by changes or mutations in genes that regulate the growth and development of mast cells. The mutation causes the production of mast cells to become uncontrollable resulting in the accumulation of mast cells in the body.

It is not yet known why the gene mutation occurred. However, in some cases, the gene mutation is suspected to be passed down from parent to child.

Mastocytosis can be experienced by anyone, both infants and adults. However, infants and toddlers are known to be more at risk of suffering from skin mastocytosis, while adults are more at risk of suffering from systemic mastocytosis.

Symptoms of Mastocytosis

Symptoms of mastocytosis can vary, ranging from mild to severe. The symptoms that can arise depend on the type, as explained below:

Cutaneous mastocytosis

Symptoms of cutaneous mastocytosis can appear on the back, chest, abdomen, legs, arms, neck, and scalp, but usually appear more often on the chest and abdomen. Some of the symptoms are:

  • The spots are red or brownish
  • Color change and thickening of the affected skin area
  • Lump
  • Blisters

Systemic mastocytosis

Symptoms of systemic mastocytosis can occur with or without skin symptoms. The symptoms can last 15-30 minutes and generally appear suddenly. The symptoms include:

  • Sensation of heat or heat, especially in the neck, face, and chest
  • Turn
  • Heart pounding
  • Shortness of breath
  • Chest pain
  • Nausea and vomiting
  • Stomachache
  • Diarrhea
  • Drown
  • Enlargement of the liver
  • Enlargement of the spleen ( splenomegaly )
  • Anxiety disorders
  • Depression

Both in skin mastocytosis and systemic mastocytosis, there are several factors that can trigger the occurrence of symptoms due to allergic reactions, namely:

  • Environmental temperature changes
  • Stress and emotions
  • Insect bite
  • Infection
  • Consumption of alcoholic beverages
  • Use of drugs, such as pain relievers ( nonsteroidal anti- inflammatory drugs )
  • Athletics
  • Spicy food or hot drinks
  • Operating procedures

When should you go to the doctor?

Check with a doctor if you or your child experiences the symptoms mentioned above.

It should be known that mastocytosis sufferers are at risk of severe allergic reactions ( anaphylaxis ) which can be fatal. Therefore, immediately contact hospital services if people around you experience the symptoms below:

  • The skin rash is red and raised
  • Swelling of the eyes, lips, hands, and feet
  • Dizziness or even fainting
  • Shortness of breath
  • Stomachache
  • Pale
  • Cold sweat

Diagnosis of Mastocytosis

The doctor will ask questions about the patient's complaints and the patient's health history. After that, the doctor will perform a physical examination, especially on the affected skin area.

If the patient is suspected of having mastocytosis , the doctor can perform supporting examinations, such as:

  • Skin biopsy, to find out the presence of mast cell accumulation that occurs by taking problematic skin samples
  • Blood and urine tests, to measure the level of mast cells in the patient's blood and urine, calculate the number of blood cells, as well as the function of the liver and kidney organs
  • Abdominal ultrasound scan, X-ray, or CT scan, to check if the patient has enlarged liver and spleen
  • Genetic testing, to find out if there is a change or mutation of a gene
  • Bone marrow examination, to detect mast cells and abnormalities in the blood, by examining samples of bone marrow fluid and tissue (bone marrow aspiration )

Treatment of Mastocytosis

Mastocytosis treatment aims to alleviate the symptoms experienced by the patient. The doctor will choose a treatment method based on the type of mastocytosis and its severity.

In some cases, skin mastocytosis in children can subside on its own without specific treatment. However, skin mastocytosis that occurs in adults should be treated immediately to prevent it from spreading to other organs.

Some medicines that can be given to ease the symptoms of skin mastocytosis are:

  • Antiallergic drugs ( antihistamines ), such as hydroxyzine
  • Corticosteroid cream
  • Methoxsalen liquid

Meanwhile, in mastocytosis that develops in internal organs, the doctor can give several medicines, such as:

  • H2 antagonist type heartburn medication , such as cimetidine, to overcome stomach disorders
  • Corticosteroid tablets, to relieve bone pain and allergic reactions

In severe mastocytosis , patients will be given drugs to inhibit the production of mast cells, such as alpha interferon, imatinib , or nilotinib.

As explained above, mastocytosis is at risk of causing a severe allergic reaction or anaphylaxis. Patients with these conditions should be immediately taken to the nearest health facility to be given an epinephrine injection .

Complications of Mastocytosis

The main complication that can be experienced by mastocytosis sufferers is a severe allergic reaction or anaphylaxis. However, the type of mastocytosis that only occurs on the skin rarely causes serious complications.

Unlike cutaneous mastocytosis, systemic mastocytosis can be aggressive and cause some of the following complications:

  • Bone loss ( osteoporosis )
  • Disruption and failure of the body's organs, such as the liver
  • Stomach ulcer
  • A decrease in the number of blood cells
  • Cancer, namely leukemia or mast cell sarcoma

Prevention of Mastocytosis

Prevention of mastocytosis is difficult to do because the cause is not yet known for sure. The best effort that can be made is to avoid triggers of allergic reactions, such as food , certain medicines, and insect bites.

In addition, sufferers are also advised to always carry an automatic epinephrine injector and a medical alert bracelet, in order to prevent the occurrence of complications that can have fatal consequences.

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