MASTOCYTOSIS
What is Mastocytosis?
A rare disorder which is characterized by abnormal
accumulations of mast cells in the skin, bone marrow,
and internal organs (liver, spleen, gastrointestinal tract
and lymph nodes).
Because of the excess number of mast cells, it causes
skin lesions, fatigue, decreased bone density, and bone
or muscle pain.
Causes
It is usually caused by changes (mutations) in the KIT gene
(Protein coding gene)
Most cases are caused by somatic mutations which are not
inherited or passed on to the next generation; however, it can
rarely affect more than one family member.
Symtoms
• Patients may develop anemia due to the decline of oxygencarrying red blood cells
• Pale
• Tired
• Shortness of breath
• Chemicals released by mast cells can also lead to typical
allergic responses such as flushing, itching, abdominal
cramping, muscle pain or shock
Symptoms continued…
When it affects the skin, which would be cutaneous mastocytosis,
patients may experience:
• Tan or red-brown spots on the skin
• Thickening of the skin
• Blisters
• Small lesions that do not itch
More symptoms
When Mastocysis affects other areas other than the skin it is called Systemic Mastocytosis. These symptoms may include:
•
Skin lesions
•
Flushed face
•
Itching
•
Nausea
•
Vomiting
•
Diarrhea
•
Abdominal pain
•
Ulcers in the stomach and duodenum
•
Headache
•
Lightheadedness
•
Heart palpitations
•
Bone pain
•
Psychological changes (for example, irritability or an inability to concentrate)
Diagnosis
May be diagnosed by the appearance of the patient’s skin, then
confirmed by counting the number of mast cells which appear on
a skin biopsy.
A doctor may also order these following tests to confirm the
diagnoses:
• A test to measure protein in the mast cells
• A test for specific genetic mutations associated with the disease
Treatment
Treatment may include:
• Medications such as antihistamines, aspirin, and drugs that
work against the substances released by mast cells in your
body
• If you have a severe allergic reaction, you may need an
injection of epinephrine. Aggressive forms of systemic
mastocytosis may need powerful chemotherapy drugs to
destroy mast cells.
References
• https://rarediseases.org/rare-diseases/mastocytosis/
• https://cancer.columbia.edu/node/13661
• https://my.clevelandclinic.org/health/articles/5908-mastocytosis
• https://www.mayoclinic.org/diseases-conditions/systemicmastocytosis/diagnosis-treatment/drc-20450478