Mast cell disease

Mast Cell Disease
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Flushing, itching, abdominal pain, anaphylaxis
Complications	Anaphylactic shock, organ damage
Onset	Varies
Duration	Chronic
Types	N/A
Causes	Genetic mutations, environmental factors
Risks	Family history, other allergic conditions
Diagnosis	Blood test, bone marrow biopsy, skin biopsy
Differential diagnosis	N/A
Prevention	N/A
Treatment	Antihistamines, mast cell stabilizers, epinephrine
Medication	N/A
Prognosis	Varies
Frequency	Rare
Deaths	N/A

Mast cell disease is a group of disorders characterized by the accumulation of mast cells in various tissues. These disorders can lead to a wide range of symptoms due to the release of mediators such as histamine, tryptase, and other inflammatory substances.

Classification

Mast cell disease can be classified into several types, including:

• Cutaneous mastocytosis: This form primarily affects the skin and is more common in children.
• Systemic mastocytosis: This form involves multiple organs and is more common in adults.
• Mast cell activation syndrome (MCAS): A condition where mast cells release excessive amounts of mediators without an increase in mast cell numbers.

Pathophysiology

Mast cells are a type of white blood cell that play a crucial role in the body's immune response. They are found in connective tissues throughout the body, particularly under the skin, near blood vessels and lymphatic vessels, in the nerves, and in the lungs and intestines.

In mast cell disease, there is an abnormal proliferation or activation of mast cells. This can be due to mutations in the KIT gene, which encodes a receptor that is important for mast cell growth and function. The most common mutation associated with systemic mastocytosis is the D816V mutation in the KIT gene.

Symptoms

Symptoms of mast cell disease can vary widely depending on the type and severity of the condition. Common symptoms include:

• Flushing
• Itching
• Abdominal pain
• Diarrhea
• Nausea
• Vomiting
• Headache
• Fatigue
• Anaphylaxis

Diagnosis

Diagnosis of mast cell disease involves a combination of clinical evaluation, laboratory tests, and sometimes tissue biopsies. Key diagnostic tests include:

• Measurement of serum tryptase levels
• Bone marrow biopsy
• Skin biopsy
• Genetic testing for KIT mutations

Treatment

Treatment of mast cell disease focuses on managing symptoms and preventing complications. Common treatments include:

• Antihistamines to block the effects of histamine
• Mast cell stabilizers such as cromolyn sodium
• Epinephrine for emergency treatment of anaphylaxis
• Corticosteroids for severe inflammation

Prognosis

The prognosis for individuals with mast cell disease varies depending on the type and severity of the condition. Cutaneous mastocytosis in children often improves with age, while systemic mastocytosis can be a chronic condition requiring ongoing management.

See also

• Allergy
• Immunology
• Anaphylaxis

Classification
External resources