Table of ContentsView AllTable of ContentsWhat It Looks LikeMast CellsTypesCausesSymptomsWhat Triggers Symptoms?DiagnosisTreatmentComplicationsPreventionOutlook
Table of ContentsView All
View All
Table of Contents
What It Looks Like
Mast Cells
Types
Causes
Symptoms
What Triggers Symptoms?
Diagnosis
Treatment
Complications
Prevention
Outlook
Continue reading to learn more about mastocytosis, including how you can feel better when living with the condition.
Mastocytosis vs. Mast Cell Activation SyndromeMastocytosis andmast cell activation syndrome (MCAS)are both types of mast cell disorders, also known as mast cell disease. However, they are different. Mastocytosis causes too many mast cells to grow, whereas mast cell activation syndrome causes the mast cells to release too much histamine, leading to allergy-like symptoms.
Mastocytosis vs. Mast Cell Activation Syndrome
Mastocytosis andmast cell activation syndrome (MCAS)are both types of mast cell disorders, also known as mast cell disease. However, they are different. Mastocytosis causes too many mast cells to grow, whereas mast cell activation syndrome causes the mast cells to release too much histamine, leading to allergy-like symptoms.
RicciPhotos / Getty Images
What Does Mastocytosis Look Like?
Mastocytosis affects roughly one to two people per 20,000 across the globe.It’s considered a rare disease. Symptoms can start in childhood or adulthood. If the condition has an onset in childhood, babies usually experience symptoms before they are 1 year old.
Mastocytosis has many possible symptoms. The symptoms depend on where the mast cells accumulate.
The most common symptoms of mastocytosis are skin changes. These can include:
Urticaria Pigmentosa and Mast Cell Involvement: What to Know
What Are Mast Cells?
Yet, with mastocytosis, too many mast cells build up in one area of the body, such as the skin, the bone marrow, or the intestines. This can cause inflammation and discomfort in these organs. Although mastocytosis isn’t considered anautoimmune disease, it is an immune system disease.
Mastocytosis Types
There are two major types of mastocytosis:
Cutaneous Mastocytosis
Cutaneous mastocytosis affects the skin. It happens when mast cells accumulate in the skin, leading to the symptoms outlined above. People with cutaneous mastocytosis mostly experience skin-related symptoms, but adults with this variety might have other symptoms too. This type of mastocytosis is more common in children than in adults, but it can occur in people of all ages.
Systemic Mastocytosis
With systemic mastocytosis, mast cells can accumulate anywhere in the body. Patients with this type of mastocytosis might have skin symptoms or might not. There are five subtypes of systemic mastocytosis, including two that are not life-threatening:
The other three forms of mastocytosis are very serious because they can impact organ function. They can lead to a shortened life span, although this varies widely. Ask your healthcare provider about your prognosis if you have one of these types:
What Causes Mastocytosis?
Mastocytosis results from a genetic mutation that happens when a fetus is developing. The condition isn’t inherited and doesn’t run in families.
The mutation is related to the KIT gene.Normally, this gene acts as an on-off switch to control the production of a protein called KIT. However, the mutation that causes mastocytosis, known as KIT D816V, causes the switch to always be on. That means mast cells are always growing and active, causing them to build up within the body.
What Are the Symptoms of Mastocytosis?
In addition to the skin symptoms outlined above, other symptoms of mastocytosis can include:
What Can Trigger Mastocytosis Symptoms?
Many people with mastocytosis find that certain triggers make their symptoms worse. Common triggers include:
How Is Mastocytosis Diagnosed?
Healthcare providers typically start with a physical exam to diagnose mastocytosis. They’ll ask you about your symptoms and triggers. If they believe you have mastocytosis, they will likely order a biopsy. If they suspect cutaneous mastocytosis, they’ll order askin biopsy. For systemic mastocytosis, they’ll need abone marrow biopsy.
The biopsy looks for the appearance of mast cells and other blood markers that indicate an excess of mast cells. If you have a certain level of these markers, you meet the criteria for mastocytosis diagnosis.
Blood tests may also help to diagnose mastocytosis.
Mastocytosis Treatment
Currently, treatment for mastocytosis focuses mostly on controlling symptoms. However, researchers are working to develop targeted therapies that can address the root cause of the condition.
Available treatments for mastocytosis include:
In severe cases, healthcare providers might recommend immune system therapies and chemotherapy. Treatments can also target specific systems, such as using blood transfusions to treat anemia, and osteoporosis drugs to help fight bone loss from mastocytosis.
Complications of Mastocytosis
Mastocytosis can be very serious. If you have the condition, it’s important to work with your healthcare provider to control symptoms. Severe forms of mastocytosis can lead to blood cancer, osteoporosis, depression, and other serious conditions. Early intervention and management of other conditions that arise from your mastocytosis can help keep you healthy.
Can You Prevent Mastocytosis?
What’s the Outlook for People With Mastocytosis?
Because this condition has such a range of severity, it’s important to have open, honest communication with your healthcare team about your specific outlook. Connecting with these organizations can also help you learn more about the condition:
Summary
Mast cells are an important part of the immune system. But when your body doesn’t stop production, mast cells can build up in your organs, leading to mastocytosis. Skin symptoms such as flushing and hives are the most common symptoms associated with mastocytosis. However, at its most serious, the condition can also impact other organs and ultimately lead to blood cancer.
6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Mastocytosis.MedlinePlus.Systemic mastocytosis.National Organization for Rare Disorders.Mastocytosis.American Academy of Allergy, Asthma & Immunology.Systemic mastocytosis.Mast Cell Hope.Living with mast cell disease — triggers and symptoms.NHS.Mastocytosis.
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Mastocytosis.MedlinePlus.Systemic mastocytosis.National Organization for Rare Disorders.Mastocytosis.American Academy of Allergy, Asthma & Immunology.Systemic mastocytosis.Mast Cell Hope.Living with mast cell disease — triggers and symptoms.NHS.Mastocytosis.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Genetic and Rare Diseases Information Center.Mastocytosis.MedlinePlus.Systemic mastocytosis.National Organization for Rare Disorders.Mastocytosis.American Academy of Allergy, Asthma & Immunology.Systemic mastocytosis.Mast Cell Hope.Living with mast cell disease — triggers and symptoms.NHS.Mastocytosis.
Genetic and Rare Diseases Information Center.Mastocytosis.
MedlinePlus.Systemic mastocytosis.
National Organization for Rare Disorders.Mastocytosis.
American Academy of Allergy, Asthma & Immunology.Systemic mastocytosis.
Mast Cell Hope.Living with mast cell disease — triggers and symptoms.
NHS.Mastocytosis.
Meet Our Medical Expert Board
Share Feedback
Was this page helpful?Thanks for your feedback!What is your feedback?OtherHelpfulReport an ErrorSubmit
Was this page helpful?
Thanks for your feedback!
What is your feedback?OtherHelpfulReport an ErrorSubmit
What is your feedback?
