Diagnosis

To diagnose systemic mastocytosis, your doctor will likely start by reviewing your symptoms and discussing your medical history, including medications you've taken. He or she can then order tests that look for high levels of mast cells or the substances they release. Evaluation of organs affected by the condition also may be done.

Tests may include:

• Blood or urine tests
• Bone marrow biopsy
• Skin biopsy
• Imaging tests such as an X-ray, ultrasound, bone scan and CT scan
• Biopsy of organs affected by the disease, such as the liver
• Genetic testing

Types of systemic mastocytosis

The five main types of systemic mastocytosis include:

• Indolent systemic mastocytosis. This is the most common type and usually doesn't include organ dysfunction. Skin symptoms are common, but other organs may be affected, and the disease may worsen slowly over time.
• Smoldering systemic mastocytosis. This type is associated with more-significant symptoms and may include organ dysfunction and worsening disease over time.
• Systemic mastocytosis with another blood or bone marrow disorder. This severe type develops rapidly and is often associated with organ dysfunction and damage.
• Aggressive systemic mastocytosis. This rare type is more severe, with significant symptoms, and is usually associated with progressive organ dysfunction and damage.
• Mast cell leukemia. This is an extremely rare and aggressive form of systemic mastocytosis.

Systemic mastocytosis most commonly occurs in adults. Another type of mastocytosis, cutaneous mastocytosis, typically occurs in children and usually affects only the skin. It generally doesn't progress to systemic mastocytosis.