What are the other Names for this Condition? (Also known as/Synonyms)

• Cutaneous Mastocytosis

What is Mastocytic Enterocolitis? (Definition/Background Information)

• Mastocytic Enterocolitis is a condition in which an individual has long-standing diarrhea with abdominal pain, caused by an abnormal inflammation of the gastrointestinal tract
• Mastocytic Enterocolitis may occur by itself, or as a component of other conditions affecting certain organ systems. These are then termed as :
  • Cutaneous Mastocytosis (primarily affecting the skin)
  • Systemic Mastocytosis (affecting many different body parts)
• The abnormal inflammation is caused by specific type of cells, called the mast cells. These mast cells may be increased in numbers, in a variety of conditions, such as Systemic Mastocytosis and Cutaneous Mastocytosis
• Mastocytic Enterocolitis causes characteristic symptoms of chronic diarrhea, which is often present with crampy abdominal pain. However, no blood in stool or fever is generally noted, in such individuals
• Isolated Mastocytic Enterocolitis may be difficult to diagnose. It must be accompanied by a biopsy of the cells of the gastrointestinal tract, taken during an upper/lower endoscopy (colonoscopy)
• Once diagnosed, Mastocytic Enterocolitis and its cutaneous and systemic counterparts respond very well to medications that block parts of the immune system, such as anti-histamines

Systemic Mastocytosis: A syndrome due to the presence of an increased number of mast cells in various parts of the body, commonly the bone marrow. This can cause symptoms, such as unexplained flushing, low blood pressure, peptic ulcers, diarrhea, bone fractures, enlarged lymph nodes, and enlarged spleen/liver.

Cutaneous Mastocytosis: A syndrome characterized by the presence of too many mast cells within the skin tissues. This causes a variety of signs and symptoms, chiefly skin rashes or eruptions (known as urticaria pigmentosa). Often, a collection of mast cells occur in the skin, either as a distinct mass on the skin called a mastocytoma, or throughout the skin tissue, termed as diffuse Cutaneous Mastocytosis.

Who gets Mastocytic Enterocolitis? (Age and Sex Distribution)

• Chronic diarrhea occurs worldwide; the rate of global incidence is not known. However, it is estimated that it affects about 5% of the United States population
• A small study suggests that as many as 70% of chronic diarrhea cases from unknown causes, may be due to Mastocytic Enterocolitis
• Both male and female sexes can be affected
• There are currently no known age, race or ethnic predisposition to Mastocytic Enterocolitis

What are the Risk Factors for Mastocytic Enterocolitis? (Predisposing Factors)

• Some researchers have demonstrated a connection with auto-immune diseases, such as rheumatoid arthritis and chronic inflammatory conditions; however, this connection is not well understood

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Mastocytic Enterocolitis? (Etiology)

Potential causes of Mastocytic Enterocolitis include:

• The presence of an increased number of inflammatory cells, known as mast cells, within the inner lining of the gastrointestinal tract
• It is unclear what causes the accumulation of mast cells within the tissues

Mast cells move the contents within the gastrointestinal tract more quickly, causing diarrhea. These cells also increase the body’s sensitivity to pain, leading to abdominal pain symptoms.

What are the Signs and Symptoms of Mastocytic Enterocolitis?

Mastocytic Enterocolitis typically presents with a long history of chronic diarrhea and crampy abdominal pain. In a majority of individuals there is long-standing diarrhea, accompanied by abdominal pain. Usually, no blood is seen in stools. These are the main symptoms noted in many individuals.

Additional signs and symptoms may occur depending on whether the condition occurs, as part of Systemic Mastocytosis or part of Cutaneous Mastocytosis.

• Systemic Mastocytosis may present with unexplained flushing, low blood pressure, peptic ulcers, diarrhea, bone fractures, or enlarged lymph nodes, spleen, or liver
• Cutaneous Mastocytosis may present with hive-like lesions, known as urticaria pigmentosa; or as raised bumps on the skin, known as mastocytomas
• Severe allergic reactions (anaphylactic reactions) and skin hives can be associated with Systemic or Cutaneous Mastocytosis

How is Mastocytic Enterocolitis Diagnosed?

• Mastocytic Enterocolitis is diagnosed with a biopsy of the gastrointestinal tract. The biopsy is taken during an endoscopy of the upper portion of gastrointestinal system, or a colonoscopy to examine the colon
• The biopsy demonstrates an increased number of inflammatory cells, known as mast cells, within the inner layer of the gastrointestinal tract. The mast cells are identified with special staining techniques, called c-KIT or flow cytometry
• Additional studies that the healthcare provider may perform include, a serum tryptase (including total tryptase and/or mature tryptase), urine or serum histamine levels, and a bone marrow or skin biopsy
• Other medical problems may be ruled out using additional tests. These may include, but are not limited to, stool cultures, dietary modifications, or imaging modalities

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Mastocytic Enterocolitis?

As Mastocytic Enterocolitis causes chronic long-standing diarrhea, it has a serious effect on the quality of life. Chronic diarrhea has been found to be responsible for decreased work productivity, due to missed work days.

How is Mastocytic Enterocolitis Treated?

• Mastocytic Enterocolitis is treated with histamine-blocking drugs (such as desloratadin, cetirizine, ranitidine, or famotidine), or drugs that stabilizes mast cells, called cromolyn sodium
• Additional measures to treat the condition include avoidance of triggers, such as alcohol and non-steroidal anti-inflammatory drugs (like ibuprofen or naproxen)

How can Mastocytic Enterocolitis be Prevented?

The underlying cause of Mastocytic Enterocolitis is not completely understood; hence, there is no clear knowledge of how this disease process may be prevented.

What is the Prognosis of Mastocytic Enterocolitis? (Outcomes/Resolutions)

Once diagnosed, Mastocytic Enterocolitis responds very well to antihistamine medications and mast cell stabilizing agents. However, the diagnosis can be difficult, due to the requirement of special staining techniques at the pathology laboratory.

Additional and Relevant Useful Information for Mastocytic Enterocolitis:

Many clinical conditions may have similar signs and symptoms to Mastocytic Enterocolitis. Your healthcare provider will analyze all the information and may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.