Systemic mastocytosis

Diagnosis

The diagnosis of systemic mastocytosis often involves discussing one’s medical history and medications, assessing the symptoms experienced as well as ordering several tests.

Tests that may be required include:

  • Blood or urine tests: These can check the levels of tryptase, an enzyme released by mast cells during reactions to invaders.
  • Bone marrow biopsy: This can examine for abnormal mast cell numbers in the bone marrow.
  • Imaging tests: To detect any bone damage, an X-ray, ultrasound, bone scan and computed tomography (CT) scan may be required.
  • Genetic testing: These are done to identify mutations in the KIT gene.
  • Other tests: Skin biopsy and biopsy of organs affected by the disease, such as the liver can help confirm the diagnosis.

Treatment

The treatment approach for systemic mastocytosis typically revolves around symptom and complication management, alongside regular monitoring. Treatment strategies also vary depending on the type of mastocytosis and the organs affected. For instance, if excessive stomach acid is problematic, healthcare providers may prescribe H-2 blockers (antacids) to relieve symptoms. Conversely, if the condition results in anemia, treatment will target that specific concern.

Treatment approaches include:

  • Avoiding triggers: To prevent systemic mastocytosis attacks, steer clear of spicy foods, alcohol, specific medications, and activities that trigger them. These triggers differ from person to person, so it is crucial to identify them. If certain medications triggers the condition, wearing a medical alert bracelet with details about medications to avoid can help ensure that one receives appropriate treatment in case of emergencies.
  • Medications: This may include antihistamines to alleviate itching and flushing, as well as steroids to reduce inflammation. Bisphosphonates can also help address bone weakness commonly associated with the condition. Using an epinephrine injection in cases of severe allergic reaction may also be necessary.
  • Bone marrow transplantation: For severe or advanced cases, bone marrow transplantation may be considered, offering a chance for a cure. This is often recommended for patients with mast cell leukemia, an advanced type of systemic mastocytosis.
  • Chemotherapy: Chemotherapy drugs are used to reduce the number of mast cells in patients with aggressive systemic mastocytosis, systemic mastocytosis coupled with another blood condition, and mast cell leukemia.
  • Frequent monitoring: Bone density may require regular monitoring to watch for issues like osteoporosis and ensure timely intervention if needed. Blood and urine tests may also be done regularly to keep track of the condition and understand how a person is affected by the condition.