About systemic mastocytosis

What is systemic mastocytosis?

Systemic mastocytosis (mas-to-sy-TOE-sis) is a disorder that results in an excessive number of mast cells in your body. Mast cells normally help protect you from disease and aid in wound healing by releasing substances such as histamine and leukotrienes.

But if you have systemic mastocytosis, excess mast cells generally build up in your skin, bone marrow, gastrointestinal tract and bones. When triggered, these mast cells release substances that can overwhelm your body and result in signs and symptoms such as facial flushing, itching, a rapid heartbeat, abdominal cramps, lightheadedness or even loss of consciousness. Common triggers include alcohol, temperature changes, spicy foods and certain medications.

Several types of systemic mastocytosis exist. The most common form — indolent systemic mastocytosis — progresses slowly.

The second most common form is systemic mastocytosis associated with a second blood disorder. Another type, aggressive systemic mastocytosis, develops rapidly and is often associated with organ damage. Mast cell leukemia and mast cell sarcoma are extremely rare forms of systemic mastocytosis.

 

What are the symptoms for systemic mastocytosis?

Spleen or lymph nodes symptom was found in the systemic mastocytosis condition

How you feel has something to do with the type of systemic mastocytosis you have. Your doctor will let you know which of four main types you have:

What are the causes for systemic mastocytosis?

Most of the time, systemic mastocytosis doesn't run in families. A random change (mutation) in the KIT gene shows up in mast cells in people with mastocytosis. This gene helps program a protein that's in charge of how cells grow. It also plays a role in the way mast cells develop.

Signs of systemic mastocytosis can show up at any age, but it usually happens when you're an adult. You're most likely to get a diagnosis when you're in your 40s or 50s.

If you have systemic mastocytosis, certain triggers cause mast cells to release chemicals and cause symptoms. They aren't the same for everyone, but common triggers include:

  • Alcohol
  • Spicy foods
  • Changes in temperature
  • Insect stings
  • Stress or anxiety
  • Surgery
  • Vaccines
  • Certain medicines, such as aspirin, opioids, and non-steroidal anti-inflammatory drugs (NSAIDs)

It's also possible to get symptoms without any triggers.

What are the treatments for systemic mastocytosis?

Your doctor will tailor your treatment plan to your symptoms, the organ that's affected, and the kind of systemic mastocytosis you have. The treatments may include:

Antihistamines. These drugs may relieve skin reactions -- such as flushing and itching -- and digestive system symptoms.

Epinephrine. This hormone treats anaphylaxis.

Proton pump inhibitors. These medicines curb stomach acid, which may ease some of the digestion problems you may get.

What are the risk factors for systemic mastocytosis?

Systemic mastocytosis (mas-to-sy-TOE-sis) is an uncommon condition in which too many mast cells accumulate in the body. Mast cells are a kind of white blood cell. Mast cells can be found in connective tissues all over your body. Mast cells aid in the efficient functioning of your immune system and, in most cases, help shield you from disease.

Excess mast cells accumulate in your skin, bone marrow, digestive tract, and other organs if you have systemic mastocytosis. When activated, these mast cells release molecules that can cause symptoms akin to an allergic reaction as well as severe inflammation that can cause organ damage. Alcohol, spicy meals, insect stings, and certain drugs are all common triggers.

A person's chance of developing mastocytosis may be increased by the following factors:
1. Age: Typically, cutaneous mastocytosis develops during early childhood and infancy. The likelihood of developing systemic mastocytosis rises with age.
2. Mutation in the C-kit receptor: The c-kit receptor is a tyrosine kinase receptor, which is a protein found on the surface of certain cells that attaches to a substance that induces them to grow. Some varieties of mastocytosis, including systemic mastocytosis, may be caused by altered or mutant versions of the c-kit gene.

Symptoms
Flushing, itching or hives,Abdominal pain, diarrhea, nausea or vomiting,Anemia or bleeding disorders,Bone and muscle pain,Enlarged liver, spleen or lymph nodes,Depression, mood changes or problems concentrating
Conditions
Anaphylactic reaction,Blood disorders,Peptic ulcer disease,Reduced bone density,Organ failure
Drugs
Antihistamines

Is there a cure/medications for systemic mastocytosis?

Treatment
Treatment will differ depending on the kind of systemic mastocytosis and the organs affected. Treatment typically consists of symptom management, disease treatment, and ongoing monitoring.

Trigger management
Identifying and avoiding triggers for the mast cells, like certain foods, medications, or insect stings, can help you manage your systemic mastocytosis symptoms.

Medications
The doctor may advise you to take medications for:
1. Antihistamines, for example, can be used to treat symptoms.
2. Reduce stomach acid and digestive system discomfort.
3. Corticosteroids, for example, can be used to block the effects of the substances released by your mast cells.
4. Reduce mast cell production by inhibiting the KIT gene.

A medical expert can teach the patient how to provide an epinephrine injection if mast cells are stimulated and you have a severe allergic reaction.

1. Chemotherapy
If the patient has aggressive systemic mastocytosis, systemic mastocytosis coupled with another blood illness, or mast cell leukemia, they may be given chemotherapy to lower the number of mast cells in their body.

2. Transplantation of stem cells
A stem cell transplant may be a possibility for persons with mast cell leukemia, a more advanced form of systemic mastocytosis.

Symptoms
Flushing, itching or hives,Abdominal pain, diarrhea, nausea or vomiting,Anemia or bleeding disorders,Bone and muscle pain,Enlarged liver, spleen or lymph nodes,Depression, mood changes or problems concentrating
Conditions
Anaphylactic reaction,Blood disorders,Peptic ulcer disease,Reduced bone density,Organ failure
Drugs
Antihistamines

Video related to systemic mastocytosis