Definition

What is systemic mastocytosis?

Systemic mastocytosis 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.

How common is systemic mastocytosis?

Systemic mastocytosis is not common. Mastocytosis affects males and females in equal numbers. It can begin during childhood or adulthood. Childhood-onset disease most commonly presents within the first two years of life. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of systemic mastocytosis?

Initial signs of this disease may include “spots” that look like freckles on the skin of a person’ inner thighs or stomach. These spots are called urticaria pigmentosa and can transform into hives and itch if stroked or irritated, or if the skin is exposed to sudden changes in temperature such as a hot shower.

Other common symptoms include the following:

  • Anaphylaxis
  • Shortness of breath
  • Low blood pressure
  • Hives and swelling
  • Itching
  • Nausea and vomiting
  • Diarrhea
  • Fainting
  • Headache
  • Uterine cramps/bleeding
  • Flushing
  • Musculoskeletal pain

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes systemic mastocytosis?

Most cases of systemic mastocytosis are caused by somatic mutations in the KIT gene. This gene encodes a protein that helps control many important cellular processes such as cell growth and division; survival; and movement. This protein is also important for the development of certain types of cells, including mast cells (immune cells that are important for the inflammatory response). Mutations in the KIT gene can leads to an overproduction of mast cells, which then accumulate in internal organs and lead to the symptoms of this condition.

Risk factors

What increases my risk for systemic mastocytosis?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is systemic mastocytosis diagnosed?

A diagnosis of systemic mastocytosis (SM) is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to rule out other conditions with similar features; confirm the diagnosis; determine the type; and assess the severity. These tests may include:

  • Bone marrow biopsy – the most useful test used to diagnose the condition
  • Blood studies – may show anemia, elevated histamine levels, thrombocytopenia, high white blood cell count (leukocytosis), low blood albumin levels (hypoalbuminemia), or high serum tryptase levels
  • Imaging studies – may help to identify the extent and stage of the disease
  • Biopsies of affected organs (such as the liver and/or skin)
  • Genetic testing

How is systemic mastocytosis treated?

Treatment for systemic mastocytosis (SM) is based on the signs and symptoms present in each person. For example, the following medications may used to treat various symptoms associated with SM:

  • Antihistamines to treat or prevent skin and gastrointestinal symptoms
  • Proton pump inhibitors to treat increased stomach acid
  • Epinephrine to treat anaphylaxis
  • Steroids to treat malabsorption (impaired ability to take in nutrients)
  • Mast-cell stabilizers such as ketotifen to treat some of the skin symptoms
  • Cromolyn sodium to treat gastrointestinal symptoms, bone pain, headaches, and some of the skin manifestations

If systemic mastocytosis is cancerous (mast cell leukemia) or associated with a blood disorder, steroids and/or chemotherapy may be necessary.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage systemic mastocytosis?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: December 15, 2017 | Last Modified: December 15, 2017

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