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Mastocytosis

Mastocytosis is a rare disorder characterized by abnormal accumulation and activation of mast cells in the skin, bone marrow and internal organs

Prevalence

1-5 / 10 000

33,100-165,500

US Estimated

51,350-256,750

Europe Estimated

Age of Onset

ICD-10

C96.2
D47.0
Q82.2

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

1

The most frequent symptoms associated with the disease include pruritis, flushing, itching, diarrhea, and anaphylaxis

 

FACT

2

The spectrum ranges from indolent SM, which is predominantly characterized by severe constitutional symptoms caused by mast cell degranulation and mediator release, to advanced SM, which is characterized by organ dysfunction and reduced survival due to mast cell infiltration

 

FACT

3

Across all forms of SM, the KIT D816V mutation is the primary driver of disease

 

FACT

4

The vast majority of patients have non-advanced (indolent or smoldering) SM, with debilitating symptoms that lead to a profound, negative impact on quality of life

 

FACT

5

Approximately 60%-70% of patients with advanced systemic mastocytosis have an associated neoplasm

Interest over time

Google searches

Mastocytosis is also known as...

Mastocytosis is also known as:

  • Mast cell disease
 

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Common signs & symptoms

Abnormality of skin pigmentation

Macule

Pruritus

Urticaria

Current treatments

The treatment for mastocytosis depends on the particular symptoms of each person. Treatment for symptoms that affect the skin include antihistamines and oral psoralen plus UVA (PUVA) therapy. If the symptoms are not responsive to other treatments, a doctor may prescribe steroid creams, ointments, or solutions applied to the skin (topical corticosteroids treatment). Proton pump inhibitors can be used to treat gastrointestinal symptoms and bone pain. Different treatments work better for some people than others.

Cromolyn sodium(Brand name: Gastrocrom® (oral))

Manufactured by Azur Pharma
FDA-approved indication: Treatment of mastocytosis.
National Library of Medicine Drug Information Portal

Midostaurin(Brand name: Rydapt)

Manufactured by Novartis Oncology
FDA-approved indication: Treatment of adult patients with aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL).
National Library of Medicine Drug Information Portal

Top Clinical Trials

Top Treatments in Research

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