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Sub-Category:

Mastocytosis

Symptoms:
flushing; itching; skin lesions (urticaria pigmentosa); abdominal pain; diarrhea; low blood pressure; anaphylaxis

Root Cause:
Abnormal accumulation and activation of mast cells in the skin, bone marrow, or other organs, leading to excessive histamine release.

How it's Diagnosed: videos
Skin or bone marrow biopsy showing increased mast cells, blood tryptase levels, and genetic testing (e.g., KIT mutation).

Treatment:
Symptom management with antihistamines, leukotriene inhibitors, mast cell stabilizers (e.g., cromolyn sodium), and avoidance of triggers. Severe cases may require tyrosine kinase inhibitors.

Medications:
Antihistamines (e.g., Cetirizine , Diphenhydramine ), mast cell stabilizers (e.g., Cromolyn Sodium), and epinephrine for anaphylaxis.

Prevalence: How common the health condition is within a specific population.
Rare; estimated to affect 1 in 10,000 to 1 in 20,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Mutations in the KIT gene, certain environmental triggers, and other immune or systemic disorders.

Prognosis: The expected outcome or course of the condition over time.
Varies; indolent forms have a good prognosis, while aggressive forms can lead to organ dysfunction.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, organ failure, and anaphylaxis due to mast cell degranulation.

Mast Cell Activation Syndrome (MCAS)

Specialty: Allergies and Immunology

Category: Other Related Disorders

Sub-category: Mast Cell Disorders

Symptoms:
flushing; hives; low blood pressure; abdominal cramping; diarrhea; brain fog; fatigue; anaphylaxis

Root Cause:
Dysfunctional activation of mast cells causing excessive release of histamine and other mediators, leading to recurrent allergic-like symptoms.

How it's Diagnosed: videos
Clinical criteria include symptoms consistent with mast cell activation, elevated mediators (e.g., tryptase, histamine), and symptom improvement with medications like antihistamines.

Treatment:
Antihistamines, mast cell stabilizers, leukotriene receptor antagonists, and avoidance of known triggers.

Medications:
H1 and H2 blockers (e.g., Cetirizine , Ranitidine), mast cell stabilizers (e.g., Cromolyn Sodium), and epinephrine for severe reactions.

Prevalence: How common the health condition is within a specific population.
Precise prevalence unknown; considered an underdiagnosed condition.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, coexisting allergic disorders, chronic infections, and environmental triggers.

Prognosis: The expected outcome or course of the condition over time.
Chronic but manageable with lifestyle adjustments and medications; quality of life can vary widely.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Anaphylaxis, organ damage due to chronic inflammation, and significant impact on daily functioning.