Mastocytosis is a condition characterized by the excessive buildup of mast cells in the skin and other body tissues. It can cause symptoms like reddish-brown spots on the skin, itching, nausea, diarrhea, or dizziness.
These symptoms are related to the release of histamine by mast cells and may vary depending on the type of mastocytosis. Common triggers include heat, physical activity, or hormonal changes.
Treatment is managed by an allergist, general practitioner, or pediatrician and depends on the type of mastocytosis. Options may include medications to relieve symptoms or, in more severe cases, a bone marrow transplant.
Symptoms of mastocytosis
The main symptoms of mastocytosis may include:
- Reddish-brown skin spots that may itch
- Peptic ulcers
- Headaches, bone pain, or joint pain
- Vomiting, chronic diarrhea, or abdominal pain
- Dizziness when standing up
Symptoms vary by type and are related to the amount of histamine released into the bloodstream by mast cells.
If any of these symptoms are present, a healthcare provider such as a general practitioner, pediatrician, or allergist should be consulted for diagnosis and proper treatment.
In some cases, symptoms of anaphylaxis may also occur, including widespread skin redness or fainting. Immediate emergency care is recommended in these situations.
How diagnosis is confirmed
Mastocytosis is diagnosed by an allergist, pediatrician, or general practitioner based on symptoms, health history, and a combination of physical exams, lab tests, and imaging.
Tests that detect mastocytosis
The main tests used to diagnose mastocytosis include:
- Complete blood count and liver/kidney function tests
- Blood levels of histamine and tryptase
- Upper endoscopy
- Bone density scan
- Abdominal CT scan
- Skin, liver, or lymph node biopsy
Additionally, the doctor may request a bone marrow biopsy or myelogram to check for gene mutations associated with mastocytosis.
The tests ordered depend on the individual’s symptoms and the suspected type of mastocytosis.
Types of mastocytosis
1. Cutaneous mastocytosis
Cutaneous mastocytosis involves the accumulation of mast cells in the skin, leading to visible skin-related symptoms. This form is more common in children but can also occur in adults.
2. Systemic mastocytosis
Systemic mastocytosis involves the buildup of mast cells in internal organs, most commonly the bone marrow, where it can interfere with the production of blood cells.
In some cases, mast cells may also accumulate in the liver, spleen, lymph nodes, or stomach, potentially affecting organ function.
Possible causes
Mastocytosis is caused by mutations in the KIT gene, which lead to uncontrolled mast cell growth and accumulation in the skin or other organs.
Mast cells are produced in the bone marrow and found throughout the body. They play a key role in allergic immune responses.
Risk factors for mastocytosis
Certain factors can trigger mastocytosis symptoms, including:
- Changes in temperature, especially heat
- Physical or emotional stress
- Hot or spicy foods and beverages
- Physical exertion
- Contact with clothing
- Alcohol consumption
- Hormonal changes
Additionally, the use of opioids, nonsteroidal anti-inflammatory drugs (NSAIDs), or insect stings may also trigger symptoms.
These factors promote the release of histamine from mast cells, leading to mastocytosis symptoms.
How treatment is done
Treatment for mastocytosis depends on circulating histamine levels, overall health, and specific symptoms. It should always be guided by an allergist, pediatrician, or general practitioner.
1. Medications
Most cases of mastocytosis are managed with medications, such as:
- Antihistamines, to relieve itching, abdominal pain, heartburn, peptic ulcers, or diarrhea
- Leukotriene inhibitors, for cases where antihistamines are not effective
- Corticosteroids, to reduce inflammation or manage skin symptoms
- Monoclonal antibodies like omalizumab, to prevent anaphylactic reactions
- Proton pump inhibitors, for relief of stomach-related symptoms
- Bisphosphonates like pamidronate, to prevent bone fractures from osteoporosis
In some cases, medications such as interferon-alpha, cladribine, or imatinib may be prescribed.
For individuals with recurrent anaphylaxis, carrying an epinephrine auto-injector is strongly recommended.
2. Bone marrow transplant
An autologous bone marrow transplant may be considered in cases of aggressive systemic mastocytosis. This treatment helps control symptoms and prevent disease progression until a compatible bone marrow donor is found