Mastocytosis or mastocytosis is the buildup of one type of white blood cell, namely mast cells, in organs or body tissues. When the buildup occurs on the skin, the symptoms are dark red patches on the skin and itchy. Mast cell buildup can also occur in other organs of the body, such as the liver, spleen, bone marrow, and small intestine. This causes the symptoms that arise in patients with mastocytosis are different.
The type and severity of this very rare disease varies, ranging from only appearing spots on the skin, disruption of organ function, to causing connective tissue cancer (sarcoma) or blood cancer (leukemia).
Mast cells are part of the human immune system that reacts when there are foreign objects or germs that enter the body. This makes people with mastocytosis more susceptible to allergic reactions.
Symptoms of Mastocytosis
Symptoms of mastocytosis vary, depending on where the mast cells accumulate. The symptoms that most often appear are on the skin, which appears brownish red spots and can develop into blisters. This skin disorder mainly appears on the chest and abdomen. The skin disorder in mastocytosis causes itching, which gets worse if triggered by any of the following:
- Changes in ambient temperature.
- Sport.
- Spicy foods, hot drinks, or alcohol.
- Medications, such as pain relievers (nonsteroidal anti-inflammatory drugs).
- Certain clothing materials.
Symptoms or abnormalities that can also appear due to mastocytosis, include:
- Low blood pressure
- Throw up
- Stomach ache
- Diarrhea
- Weak
- Headache
- Anemia
- Enlargement of the liver
- Enlargement of the spleen (splenomegaly)
- porous bones (osteoporosis)
- Anxiety disorders
- Depression
Symptoms other than the skin can appear intermittently (episodic), or for a long time and are chronic. If the symptoms only appear on the skin, it is called cutaneous mastocytosis, whereas if the symptoms occur not only on the skin, it is called systemic mastocytosis. Cutaneous mastocytosis is common in children, whereas systemic mastocytosis is more common in adults.
Patients with mastocytosis are at risk for a severe allergic reaction (anaphylaxis) which can be fatal. Therefore, if symptoms arise in the form of a swollen face, difficulty swallowing, paleness, cold sweat, or shortness of breath, immediately come to the nearest health facility.
Causes of Mastocytosis
Mastocytosis is caused by changes or mutations in genes that regulate the growth and development of mast cells, resulting in excessive production of mast cells in the body.
It is not known what triggers these gene changes. However, there are allegations that gene mutations are passed from parents to children. Increasing age is also one of the factors that are thought to trigger these gene changes.
Diagnosis of Mastocytosis
The doctor will examine the patient's overall health, as well as ask about the disease that has been suffered. If mastocytosis is suspected, the dermatologist will ask the patient to undergo a skin biopsy, which is a skin sample taken to be examined under a microscope. Other tests that your doctor may recommend include:
- Blood and urine tests. This test is done to measure the levels of mast cells in the patient's blood and urine. Blood samples will also be used to count the number of blood cells, as well as the function of the liver and kidneys.
- USG stomach. This scan test is done to check if the patient has an enlarged liver and spleen.
- InspectionBone marrow. Sampling of fluid and bone marrow tissue (bone marrow aspiration) is done using a needle, which is inserted into the bone in the buttocks area. This examination aims to determine treatment.
- Genetic testing. This test is done to look for genetic disorders.
Mastocytosis Treatment
Treatment of mastocytosis aims to relieve symptoms that arise. The doctor will provide treatment for mastocytosis based on its type and severity.
Patients who are experiencing severe allergic reactions, must be immediately taken to the nearest health facility for injections epinephrine.
In some cases, skin disorders in children can subside on their own without special treatment. The symptoms of mastocytosis on the skin can be relieved by giving anti-allergic drugs (antihistamines), such as hydroxyzine.
In addition to antihistamines, mastocytosis of the skin can be relieved by administration of corticosteroid creams or fluids methoxsalen. Skin mastocytosis that occurs in adults must be treated immediately so that it does not spread to other organs.
H2 antagonists for stomach ulcers, such as cimetidine, can be used to treat disorders of the stomach, such as gastritis and gastric ulcers. Corticosteroid tablets will be used to relieve bone pain or allergic reactions.
Meanwhile, for severe mastocytosis, patients can be given drugs that can inhibit mast cell production, such as interferon alpha, imatinib, or nilotinib.
Until now, no treatment method has been found that can cure mastocytosis.
Mastocytosis Complications
Mastocytosis confined to the skin rarely causes complications. However, if found in other organs, mastocytosis can be aggressive and cause various complications, such as:
- Weight loss.
- Absorption disorders.
- Bone loss.
- Decrease in the number of blood cells.
- Liver disfunction.
- Accumulation of fluid in the abdominal cavity (ascites).
