Systemic MastocytosisSymptoms, Doctors, Treatments, Advances & More
Learn About Systemic Mastocytosis
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.
Systemic mastocytosis occurs when white blood cells called mast cells, which are produced in bone marrow, abnormally accumulate in one or more tissues. In most cases of systemic mastocytosis, the accumulated mast cells have a mutation in a gene called KIT. The KIT gene provides instructions for making a protein that plays an important role in development and activity of mast cells. The KIT protein stimulates chemical signaling pathways that are involved in the growth and division (proliferation) of many types of cells, including mast cells. In systemic mastocytosis, KIT gene mutations are somatic, which means they are acquired during a person's lifetime. These mutations result in a KIT protein that is always turned on (activated). As a result, signaling pathways are overactive, leading to increased production and accumulation of mast cells.
Systemic mastocytosis is estimated to occur in 1 per 10,000 to 20,000 individuals worldwide.
This condition is generally not inherited but arises from a somatic mutation in the body's cells that occurs after conception.
Dept Of Transfusion Medicine/Nih Clinical Center
Dean Metcalfe is a Rheumatologist practicing medicine in Bethesda, Maryland. Dr. Metcalfe is rated as an Elite provider by MediFind in the treatment of Systemic Mastocytosis. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Mast Cell Activation Syndrome (MCAS), Systemic Mastocytosis, Urticaria Pigmentosa, and Anaphylaxis.
Domino's Farms
Dr. Akin completed his residency in Internal Medicine and PhD at the University of Louisville, and his Allergy/Immunology fellowship at the NIH Clinical Center, where he also worked as a staff physician and researcher. He was then an Assistant Professor at the University of Michigan and an Associate Professor at Harvard Medical School, where he established and lead the Mastocytosis Center at the Brigham and Women's Hospital in Boston. He is internationally recognized for his work on mast cell disorders and anaphylaxis and is an active member of the AAAAI. Dr. Akin is rated as an Elite provider by MediFind in the treatment of Systemic Mastocytosis. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Systemic Mastocytosis, Mast Cell Activation Syndrome (MCAS), Anaphylaxis, Urticaria Pigmentosa, and Tissue Biopsy.
Dana-Farber Cancer Institute
Daniel Deangelo is an Oncologist practicing medicine in Boston, Massachusetts. Dr. Deangelo is rated as an Elite provider by MediFind in the treatment of Systemic Mastocytosis. He is also highly rated in 36 other conditions, according to our data. His clinical expertise encompasses Systemic Mastocytosis, Acute Myeloid Leukemia (AML), Leukemia, Bone Marrow Aspiration, and Bone Marrow Transplant.
Summary: This is a randomized, double-blind, placebo-controlled, Phase 2/3 study comparing the efficacy and safety of elenestinib (BLU-263) + symptom directed therapy (SDT) with placebo + SDT in participants with indolent systemic mastocytosis (ISM) whose symptoms are not adequately controlled by SDT. Parts 1 and 2 will enroll participants with ISM. Participants enrolled in Part 2 will roll over onto Part ...
Summary: Systemic mastocytosis with an associated hematologic neoplasm (SM-AHN) is a challenging disease to treat. Targeted KIT inhibitors have been approved for this indication based on their ability to control the mastocytosis portion of the disease, but patients frequently experience progression of the concomitant myeloid malignancy (i.e. the AHN). Using a combination approach to treat both aspects of t...
Published Date: October 01, 2018
Published By: National Institutes of Health