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Common Types of Mastocytosis and Their Symptoms

Mast cells are a type of blood cell found in the body’s connective tissues. They help the immune system function properly and protect the body from disease. However, some individuals may develop mastocytosis, a rare disorder that causes a build-up of mast cells in the skin, bone marrow, and digestive tract. The condition has several types, each causing different symptoms. Here are some of the most common signs and symptoms of this mast cell disease.

Symptoms of cutaneous mastocytosis
This is one of the most prevalent types of mastocytosis that leads to skin lesions. One should look out for the following symptoms:

Small areas of skin that change color (macules)
Small, raised, firm bumps (papules)
Larger raised, red bumps (nodules)
Blisters (commonly affect younger children)

Individuals should note that lesions (urticaria pigmentosa) usually develop on the trunk and limbs rather than the head and neck. They are usually reddish-brown and may range from one millimeter to several centimeters in size. The number of lesions on the skin may vary from one person to the next. Patients should avoid stroking the affected areas as it could worsen the lesions and make the region swollen, itchy, and red.

Symptoms of systemic mastocytosis
Some people with systemic mastocytosis may have episodes of severe symptoms when they go through physical exertion or stress. The symptoms vary depending on where the abnormal mast cells gather. For instance, someone who has a high number of mast cells in their stomach may develop ulcers and belly pain. Common systemic mastocytosis symptoms include:

Flat red areas on the skin with many small bumps, which experts may call maculopapular skin rash caused by mastocytosis.
Urticaria pigmentosa, which are dark-colored bumps on the skin that are severely itchy.
A flushed face, where one may find that their complexion turns very red out of the ordinary.
An itch that does not go away (scratching the itchy region may cause raised red spots).
Headaches due to the rapidly multiplying mast cells.
An irregular beating of the heart that may trigger heart palpitations.
Bone pain that results from abnormal mast cells

Individuals affected by systemic mastocytosis may suddenly develop several symptoms simultaneously, which may go away later. Healthcare providers may call this a mastocytosis attack. Most of these symptoms are identical to those of other less-severe illnesses. Having such symptoms does not mean one has systemic mastocytosis. However, it is advisable to speak to a healthcare provider. The expert can evaluate the situation and determine what is causing the symptoms.

One should note that there are three main types of systemic mastocytosis:

Indolent systemic mastocytosis
The symptoms of this type are usually mild to moderate and differ from one person to the next. Indolent systemic mastocytosis accounts for about 90% of adult systemic mastocytosis cases.
Aggressive mastocytosis
In this type of mastocytosis, the mast cells multiply in organs like the liver, spleen, and digestive system. The symptoms are more wide-ranging and severe, but skin lesions are less common.
Systemic mastocytosis with associated blood (hematological) disease
People affected by this type develop a condition that affects the blood cells. As a result, they may also develop chronic leukemia.

Symptoms of smoldering systemic mastocytosis
This type of mast cell disease is associated with more significant symptoms, such as organ dysfunction. Its symptoms might vary based on where the abnormal mast cells are present. For instance, one might develop a rash, get flushed, or itch their body if there are excessive abnormal mast cells in the skin. The symptoms may appear after a trigger and go away or last long. A few symptoms one may experience due to smoldering systemic mastocytosis include:

Nasal congestion
Fatigue
Stomach pain, diarrhea, and bloating
Nausea or vomiting
Lightheadedness or loss of consciousness
Osteoporosis
Low blood pressure
Rapid heartbeat
Anemia and bleeding disorders
An enlarged liver, lymph nodes, and spleen

Someone affected by smoldering systemic mastocytosis may also develop mental health complications. For example, one might find they have unusual attention problems. Experts are yet to determine if this occurs due to a build-up of abnormal mast cells in the brain or because of the stress of living with systemic mastocytosis.

Severe symptoms of mastocytosis
One may also experience these severe symptoms of mastocytosis:

Low blood pressure (hypotension)
Those with severe symptoms may experience a sudden fall in blood pressure during an attack. Low blood pressure may trigger several associated symptoms, including dizziness, blurred vision, fainting, confusion, and general weakness.
Severe allergic reactions
One of the most common symptoms of mastocytosis is a severe allergic reaction called anaphylaxis. The increased risk of anaphylaxis results from the abnormally high number of mast cells and their potential to release excessive amounts of histamine into the blood. If an adult or child has mastocytosis, they may need to carry specific treatments with them to treat the symptoms of anaphylaxis immediately.

Disclaimer:

The content of the articles discussing symptoms, treatments, health conditions, and side effects is solely intended for informational purposes. It is imperative that readers do not interpret the information provided on the website as professional advice. Readers are requested to use their discretion and refrain from treating the suggestions or opinions provided by the writers and editors as medical advice. It is important to seek the help of licensed and expert healthcare professionals when necessary.

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