Mastocytosis and Mast Cell Disorders - Causes and Diagnosis

Authored by Dr Laurence Knott, 09 Jul 2017

Patient is a certified member of
The Information Standard

Reviewed by:
Dr John Cox, 09 Jul 2017

The cause is not known. It is suspected that there is a fault in the gene (the material inherited from your parents) that controls mast cell production.

Triggers for mastocytosis symptoms

Although not strictly speaking the cause of mastocytosis, a number of factors are known to trigger the symptoms. These include:

  • Physical triggers - for example, heat, cold, rubbing, sunlight, tiredness, lots of exercise, a high temperature (fever).
  • Emotional triggers - for example, stress.
  • Some foods - for example, cheese, spices, shellfish, food preservatives, flavourings and colourings, monosodium glutamate.
  • Toxic substances in the environment - for example, perfumes, pesticides.
  • Insect bites, jelly fish stings, snake bites.
  • Infection with germs (bacteria), funguses or viruses.
  • Alcohol.
  • Medicines - for example, anaesthetic agents, aspirin, antibiotics, opioids, and many other medications.

It's usually possible to guess the diagnosis if the skin is involved. However, the more generalised form causes so many different symptoms it may only become clear what the problem is once tests have been done.

Because there can be so many different symptoms, the disorders can easily be confused with other conditions. These can include other skin disorders, liver and bowel problems, glandular conditions and rare tumours.

You will need a sample taken from your skin (a biopsy) for genetic testing. Chest and bone X-rays or scans may be needed. Various blood and urine tests will be arranged. The main test involves removing some bone marrow or tissue from an area other than the skin. The sample is tested for the presence of mast cells: various genetic and chemical tests may also be performed.

Further reading and references

  • Cardet JC, Akin C, Lee MJ; Mastocytosis: update on pharmacotherapy and future directions. Expert Opin Pharmacother. 2013 Oct14(15):2033-45. doi: 10.1517/14656566.2013.824424.

  • Maculopapular cutaneous mastocytosis; DermNet NZ, 2014

  • Pardanani A; Systemic mastocytosis in adults: 2017 update on diagnosis, risk stratification and management. Am J Hematol. 2016 Nov91(11):1146-1159. doi: 10.1002/ajh.24553.

I have two specific questions please:1.  Breathlessness & MCAS.2.  Orthostatic HyPERtension & MCAS​1.  The lists of symptoms always just say 'breathlessness', please could anyone tell me how this...

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