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Mastocytosis of Unknown Primary – Symptoms, Treatment & Support

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Posted by Matthew O’Connor | Jul 3, 2023

What is Mastocytosis of Unknown Primary?

Mastocytosis of unknown primary is a condition where there is an abnormal accumulation of mast cells (cells that are part of the body’s immune system) in various tissues throughout the body, but the primary site, or the initial location of the abnormal cell growth, is not known.

Mast cells play an essential role in the body’s immune response, particularly in relation to allergic reactions. They are packed with granules containing various chemicals, including histamine, which is released in response to certain stimuli. In mastocytosis, this process can go awry, causing too many mast cells to accumulate and leading to an excessive release of these chemicals.

Mastocytosis can be categorized as cutaneous (affecting the skin only) or systemic (affecting various organs and tissues). Systemic mastocytosis can further be divided into indolent (slow-growing) or aggressive types.

Symptoms

Symptoms of mastocytosis of unknown primary depend on where in the body the mast cells have accumulated. These can include:

  • Skin lesions, itching, or redness
  • Abdominal pain, nausea, vomiting, or diarrhoea
  • Flushing or other signs of anaphylaxis
  • Fatigue or weakness
  • Bone pain or fractures

Disease Aetiology (Causes)

The cause of mastocytosis of unknown primary is not well-understood. It is thought to be due to genetic mutations that cause an increase in the number of mast cells or their activity in the body.

Diagnosis

Diagnosing mastocytosis of unknown primary typically involves:

  • Detailed medical history and physical examination
  • Blood tests, including a complete blood count and a test for the mast cell product tryptase
  • Biopsy of affected tissue to examine the cells under a microscope
  • Bone marrow biopsy may be needed in some cases
  • Imaging tests like CT scan, PET scan, or MRI to help locate the primary site

Treatment

The treatment for mastocytosis of unknown primary often includes:

  • Medications to control symptoms caused by the release of substances from the mast cells. These can include antihistamines, corticosteroids, or mast cell stabilisers.
  • Chemotherapy: In severe cases or when mastocytosis becomes malignant, chemotherapy may be used.
  • Targeted therapy: In certain cases, medications that target specific genetic mutations may be used.

What Support can we Give for Mastocytosis of Unknown Primary?

Mastocytosis of Unknown Primary is rare cancer, meaning it is not as well known as other forms of cancer. Without a Ribbon is an Australian organisation that provides support for individuals who suffer from rare cancers. So, we provide a designated platform for Warriors to obtain information specific to their Rare Cancer. We also provide annual opportunities for our Warriors to meet and learn from each other. If you suffer from rare cancer such as Mastocytosis of Unknown Primary, we can help and support you through your journey thanks to the generous donations we receive. Click the link below to sign up and become a Warrior today!

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Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways:

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