Systemic Mastocytosis

1 What is Systemic Mastocytosis?

Systemic mastocytosis is a rare disorder in which there are increased number of mast calls in the body. Often occurs due to mutation. When these mast cells are activated they can release various substances which result in various symptoms.

There are seven types of systemic mastocytosis. Some of them progress slowly and others rapidly. There are some cancerous subtypes also.

2 Symptoms

Symptoms of systemic mastocytosis include:

  • facial redness,
  • itching,
  • increased heartbeat,
  • abdominal cramps,
  • lightheadedness,
  • loss of consciousness.

3 Causes

Systemic mastocytosis caused by mutation (alternation in genome) leads to excessive number of mast cells in the body.

Histamine is one of the substances released from the mast cell resulting in itching, redness and other symptoms.

Alcohol, temperature changes spicy food and certain medications are the substances which may trigger mast cells.

4 Making a Diagnosis

Systemic mastocytosis is similar to other conditions and therefore the following diagnostic tests are recommended to rule out other situations:

  • Bone marrow biopsy- small amount of bone marrow tissue is analyzed for increased number of mast cells.
  • Blood test- triptase enzyme content is checked. A low number of red blood cells or high number of eosinophils may also indicate this disorder.
  • Urine test- levels of histamine products leukotrienes and prostaglandins are checked in urine.
  • Imaging tests- x-ray, ultrasound and computed tomography may be helpful to determine stage of the condition.

The diagnosis is never based on physical examination only.

5 Treatment

Treatment varies on the type of systemic mastocytosis. Basic components of treatment are:

  • Treating and controlling symptoms: Medications like anti-histamines and aspirin and certain drugs can be used, corticosteroids can be used topically, epinephrine injection in severe cases.
  • Regular monitoring: Regular blood and urine analysis which gives a better picture of the disease to doctors. Bone density measurements every two year is a regular component of treatment because systemic mastocytosis often effects bone and bone and bone marrow.
  • Chemotherapy is used only in aggressive forms of systemic mastocytosis or if mastocytosis is associated with another blood disorder.

6 Prevention

Some of the preventive measures for systemic mastocytosis include:

  • Avoiding alcohol, spicy food,
  • allergic test must be performed on patient before consumption of medications.

7 Risks and Complications

Risks of systemic mastocytosis include:

  • family history,
  • alcohol abuse,
  • having other allergic conditions or having underlying blood disorder.

Complication of severe mastocytosis can be death due to anaphylactic shock.

8 Related Clinical Trials