Systemic Mastocytosis

Diagnosis

To diagnose systemic mastocytosis, your doctor will review your symptoms and medical history, including medications you’ve taken. Tests are then ordered to detect high levels of mast cells or the substances they release and to evaluate affected organs.

Tests may include:

• Blood or urine tests

• Bone marrow biopsy

• Skin biopsy

• Imaging tests such as X-ray, ultrasound, bone scan, and CT scan

• Biopsy of affected organs, such as the liver

• Genetic testing

Types of systemic mastocytosis include:

• Indolent systemic mastocytosis: Most common, usually without organ dysfunction. Skin symptoms are common, and disease progression is slow.

• Smoldering systemic mastocytosis: Associated with more significant symptoms, possible organ dysfunction, and progressive disease.

• Systemic mastocytosis with another blood or bone marrow disorder: Severe, rapid onset, often with organ dysfunction.

• Aggressive systemic mastocytosis: Rare and severe, with progressive organ damage.

• Mast cell leukemia: Extremely rare and aggressive form.

Systemic mastocytosis mostly occurs in adults, while cutaneous mastocytosis typically occurs in children and usually affects only the skin.

Treatment

Treatment depends on the type of systemic mastocytosis and the organs affected. It focuses on controlling symptoms, managing the disease, and regular monitoring.

Controlling triggers

• Identify and avoid factors that trigger mast cells, such as certain foods, medications, or insect stings.

Medications
Your doctor may recommend medications to:

• Treat symptoms with antihistamines

• Reduce stomach acid and digestive discomfort

• Counteract effects of substances released by mast cells, such as corticosteroids

• Inhibit the KIT gene to reduce mast cell production

A healthcare professional can teach you how to administer an epinephrine injection for severe allergic responses.

Chemotherapy

• For aggressive systemic mastocytosis, systemic mastocytosis with another blood disorder, or mast cell leukemia, chemotherapy may reduce mast cell numbers.

Stem cell transplant

• In advanced cases, such as mast cell leukemia, a stem cell transplant may be considered.

Regular monitoring

• Ongoing monitoring using blood and urine samples helps track the condition.

• Home collection kits may provide additional insights into symptom patterns.

• Bone density measurements can monitor for complications like osteoporosis.