A rare blood disorder that is caused when the body produces abnormal mast cells that multiply is called systemic mastocytosis. In normal circumstances, mast cells help defend the body against intruders (such as allergens). In people with this disorder, the body makes too many of these cells, which leads to a continuous allergic response. Furthermore, these mast cells begin to multiply abnormally, affecting your skin and internal organs.
In addition, mast cells begin to release a substance called Histamine when they identify an intruder. This substance sets off an allergic response. Normally, these cells stop releasing Histamine when their job is done. In people with systemic mastocytosis, mast cells continue to release Histamine long after they should. It results in chemical overload that causes a continuous allergic response that negatively affects your skin and other organs in the body.
In general, this disorder occurs rarely and affects about 13 out of every 100,000 people in the entire world. Additionally, those who develop systemic mastocytosis have an increased risk of developing anaphylaxis (a life-threatening allergic reaction) or cancer (rarely). This condition cannot be cured. That’s why treatment focuses on relieving the symptoms and preventing life-threatening complications.
Types of Systemic Mastocytosis
Healthcare providers have divided this condition into 6 types, and each one affects people differently. For example:
- Indolent systemic mastocytosis – This is one of the most common types of this disorder, and symptoms usually appear over a few years after it occurs. Moreover, it often affects the skin, liver, spleen, and gastrointestinal tract (GI).
- Systemic smoldering mastocytosis – Those who develop this type may experience problems with the liver and spleen because there are multiplying abnormal mast cells. As a result, it usually leads to an enlarged spleen or liver.
- Systemic mastocytosis with associated hematologic neoplasm – This type of systemic mastocytosis often affects about one-fifth of people with this disorder. It causes blood disorders like myeloproliferative neoplasms and myelodysplastic syndrome.
- Aggressive systemic mastocytosis – This type of condition often impacts the bones and bone marrow. Abnormal mast cells begin to multiply in the bones, which makes them weak and more prone to fractures.
- Mast cell leukemia – This is a rare type of systemic mastocytosis, and it occurs when mast cells become cancerous. It is also a form of acute myeloid leukemia (AML).
- Mast cell sarcoma – This type also occurs rarely, and it causes tumors made of mast cells to attack healthy tissue. In general, only a few people with systemic mastocytosis develop this type of condition.
Symptoms
The symptoms appear differently because they depend on where mast cells gather. For instance, if there are too many abnormal mast cells in the stomach, you may develop ulcers and abdominal pain, but if these cells appear mostly in the bone marrow, it may affect blood cell production. Check below some symptoms that people with systemic mastocytosis usually experience:
- Anemia (low red blood cell count)
- Extreme tiredness (fatigue)
- Excessive bleeding
- Bone pain
- Heart palpitations
- Hives
- Itchy skin
- Mood swings
- Mental health problems (such as anxiety or depression)
- Urticaria pigmentosa (including dark and itchy bumps on the skin)
Sometimes, people with this disorder may develop several symptoms at once. It is often called by doctors a mastocytosis flare or attack. In any case, there are a lot of disorders that cause similar symptoms to systemic mastocytosis. If you experience any of them, do not hesitate to see a doctor for a diagnosis and proper treatment.
Causes and Risk Factors
According to some research, approximately 80% of people with this disorder have a KIT gene variant (change or mutation). These genes are essential in developing certain cell types, including blood and mast cells. In most cases, gene mutations occur after conception and are not hereditary.
Furthermore, healthcare professionals have identified some factors that could increase your risk of developing systemic mastocytosis. Check below some of them:
- Eating a lot of spicy foods
- Misuse of alcoholic beverages
- Some medications – These include nonsteroidal anti-inflammatory drugs (NSAIDs), muscle relaxers, and anesthesia
- Exercise and physical activity
- Insect bites (especially ant bites) and wasp or bee stings
- Emotional or physical stress
- Friction or rubbing on the skin
- Sudden temperature changes (such as when you jump into cold water)
You can also consult with your doctor about which triggers you should avoid.
Complications
People who develop this rare disorder may also experience some complications. Check below some examples:
- Severe allergic reactions (including loss of consciousness, fast heart rate, fainting, and shock)
- Reduced bone density
- Osteoporosis
- Stomach acid overproduction that often leads to peptic ulcers
- Blood clots
- Organ failure
- Neuropsychiatric symptoms (such as depression, mood swings, memory loss, and difficulty concentrating)
- Aggressive systemic mastocytosis (ASM)
This document does not contain a full list of complications. However, you can talk with your doctor about preventive measures for the previous complications.
How to Prevent Systemic Mastocytosis?
Unfortunately, this condition cannot be prevented because it is a genetic disorder. That’s why the treatment goal is to reduce the risk for attacks or flares by avoiding triggers and managing the symptoms.
Diagnosis
The diagnosis of this rare disorder begins with a physical examination and questions about the symptoms and medical history. They may also perform some tests to confirm or rule out systemic mastocytosis. For example:
- Blood tests – These tests are often done to check for the amount of Tryptase in the blood. This is an enzyme that mast cells release when they find intruders.
- Bone scan – It helps identify signs of bone damage.
- Bone marrow biopsy – During this procedure, doctors will take a sample of the bone marrow for testing.
- Genetic tests – This test involves a blood sample to check for a KIT gene variant. It could be the only test that can confirm systemic mastocytosis.
Treatment
In general, doctors prescribe treatments to ease the symptoms and prevent complications. For instance, if the condition affects the stomach and causes overproduction of stomach acid, doctors may recommend H2 blockers (antacids), but if the condition causes anemia, doctors will prescribe a treatment to address it. Check below for other treatments often recommended for people with systemic mastocytosis:
- Antihistamines (medicines used to relieve itching, flushing, and other skin reactions)
- Corticosteroids (a group of medicines used to reduce inflammation)
- Biphosphonates (these medicines help with bone weakness)
- Targeted therapy (this treatment is often recommended to destroy abnormal mast cells)
- Chemotherapy (this treatment involves strong medicines to destroy mast cells that become cancerous)
- Splenectomy (surgery to remove the spleen)
- Bone marrow transplant (in severe cases, doctors may recommend this treatment)
Furthermore, people with this disorder should carry an Epinephrine shot used to treat anaphylaxis.
Frequently Asked Questions
When should I see my healthcare provider?
People with this condition should see their doctor regularly for checkups to maintain overall health. It is also recommended to inform your doctor about new or worsening symptoms.
What can I expect if I have systemic mastocytosis?
There is no way to cure this condition, but doctors may recommend strategies to manage the symptoms and prevent serious complications. Potentially, bone marrow transplants can cure systemic mastocytosis. However, this is not an option for everyone, or doctors preserve this treatment for people with the most aggressive forms of the disease.
What is the life expectancy with mastocytosis?
The life expectancy of people with systemic mastocytosis varies significantly because it depends on the type and severity of the condition, their overall health, age, and other factors. For instance, mild forms of the condition may not affect a person’s lifespan, but if you develop an aggressive systemic mastocytosis (ASM), the median survival is around 3 to 6 years after diagnosis. Ask your healthcare provider if you have additional questions.
