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Advanced Systemic Mastocytosis and its FAQS

by Gauri Kolhe

Advanced Systemic Mastocytosis is a disease which is distinguished by the accumulation of mast cells in the body’s organs.

 What are the mast cells? Mast cell or mastocyte is cell occur in connective tissue and contain many granules that are rich in heparin and histamine. Mast cell is derived from myeloid stem of immune system.

 Systemic mastocytosis is a rare disorder in which to many mast cells building in your body. 1 out of 10000 to 20000 people experiences this medical condition as it is underdiagnosed condition.

As Mast cells part of immune system they have the tendency to fight against foreign invaders such as germs and viruses. Mast cells produce histamine which is made up of protein and responsible for recruiting other immune cells and manipulate the inflammatory response.  

What causes Mastocytosis?

The condition Mastocytosis is originated due to the mutations in the receptor present on the surface of mast cell. These receptors tend to help regulation, cell growth and division.

These mutations in receptor cause the chronic “on” state that results greater production of mast cells than required quantity.

This excessive production of mast cell results in the accumulation of mast cells in the various organs of body such as skin and other internal organs.

According to genetic and rare disease information centre organs accumulating mast cells may include:

  •  Lymph nodes
  • Small intestines
  • Bone marrow
  • Spleen

What happens in the advance mastocytosis is that mast cells progressively build up within the organs that lead tissue damage and interruptions in the body function. As a result organ failure happens.

Symptoms

Among all the symptoms of mastocytosis, spotty rash is the first symptom that is caused by the accumulation of mast cells under the skin.

 As the disease progresses and other organs become affected According to the American Academy of Allergy Asthma & Immunology, and as a result people may experience symptoms like below:

  • Headaches
  • Gastrointestinal pain or distress, including nausea, vomiting, or diarrhea
  • Muscle and bone pain

Because mast cells regulate the immune response, symptoms of an allergic response can also be seen due to the association of mast cells to immune system can also include flushing and shortness of breath.

Some of the people with mastocytosis experience anaphylaxis which is a serious kind of allergic reaction. People suffering from the mastocytosis can also suffer low blood pressure that causes fainting.

Diagnosis of Mastocytosis

The mast cell disease society given criteria to diagnose the advance mastocytosis. The doctor or medical practitioner you concern, diagnose the advance mastocytosis if the symptoms and test results fulfill those criteria

To diagnose mastocytosis doctors may go for a bone marrow puncture and imaging to see if mast cell that overproduced has gotten into the bone marrow or an organ other than the skin.

This process is the major criteria for the diagnosis of mastocytosis. There are some of the minor criteria for this includes:

  • High numbers of eosinophils, a type of white blood cell
  • Some of the cell surface markers
  • Diagnosis of elevated levels of tryptase that works as biomarkers released by mast calls
  • The presence of a KIT mutation in mast cells

Treatment

There is no cure for advanced systemic mastocytosis, but many of the symptoms can be treated by medicines. Treatment of mastocytosis includes:

  • Epinephrine: to treat anaphylactic reactions doctors prescribes epinephrine.
  • Steroids: steroids help to reduce inflammation in the skin and gut that prevent intestinal malabsorption
  • Use of Antihistamines: antihistamine affects the overproduction of histamine that manages symptoms of mastocytosis of skin and GIT.
  •  Bisphosphonates: doctors prescribe them to prevent bone loss

Cladribine is widely used chemotherapeutic that targets immune cells in case of advance systemic mastocytosis.  Mechanism of action of Cladribine is the blockage of replication of DNA in immune cells that prevent growing and spreading of the mast cells.  

But cladribine can cause immunosuppression, according to 2015 research. This increases the likelihood of potential deadly infections. That’s why it’s often reserved for people with aggressive forms of the condition.

Midostaurin also used in aggressive form of the systemic advance mastocytosis. Midostaurin works by blocking the activity of the mast cell receptor. According to a 2009 study, that inhibits the growth of mast cells and the release of histamine.

According to a research in 2019, Imatinib which is a kinase inhibitor also has been shown effect in the people with forms of advanced systemic mastocytosis involving KIT mutations.

Mast cells are produced in bone marrow so bone marrow transplant may also help slow down the progression of advance systemic mastocytosis.

Life span with systemic mastocytosis

Advance systemic mastocytosis is the sever condition that could lead the mast cell leukemia, an aggressive form of cancer. The severity of the disease affects the life expectancy of the person.

According to the National Organization for Rare Disorders, advanced systemic mastocytosis can take the form of:

  • Blood disorders
  • Mast cell leukemia
  • A single tumor
  • Organ impairment or failure, usually affecting the:
    • Liver
    • Gut
    • Bones
    • Bone marrow

Can systemic Mastocytosis turn into leukemia?

As Systemic mastocytosis is associated with the connective tissue it can causes other complications. In this case people also wondering that could it turn into leukemia?  

Well this could happen in very rare cases. Excessive accumulation can turn into lukemeia and this condition buildup ast cells within the blood and bone marrow.

According to the American Society of Hematology, however, less than 1 percent of cases of mastocytosis progress to mast cell leukemia.

Mast cell leukemia is an aggressive and severe form of cancer that has a life expectancy of less than 6 month in average. Although there is no treatment for the mast cell lukemia, treatment can slow down the progression of mast cell leukemia.

Summary

Advanced systemic mastocytosis is a medical condition associated with accumulation of mast cells due to overproduction of mast cells in the organs of body and results in organ failure.

Continuous and uncontrolled buildup of mast cells causes impaired body function, leads the organ failure ultimately. Advance mastocytosis can be diagnoses by determining the level of tryptase and bone marrow puncture. Spotty rashes are the primary symptom.

Although there is no cure for the advance mastocytosis but symptoms can be managed by the treatment.

People having aggressive form of the advance mastocytosis prescribed to use midostaurin, cladribine and bone marrow in some cases can also help.

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