Affecting one in every 10,000 people, systemic mastocytosis is an incurable, rare disease similar to leukemia that invades the bone marrow and other organs with mast cells. Mast cells are a type of cell that controls the body’s inflammatory and allergic responses. Systemic mastocytosis occurs when the human body produces an increased number of abnormal mast cells, causing amplified allergic reactions and inflammatory responses. An inflammatory response includes symptoms such as warmth, swelling, redness, pain, and loss of function. Examples of an inflammatory response include a rash to the skin or swelling due to a torn ligament in the knee. A chromosomal abnormality fusing two incorrect genes and producing a large amount of mast cells is the suspected cause behind systemic mastocytosis.
There are different subtypes of the disease, ranging from mild symptoms (indolent systemic mastocytosis) to advanced forms of the disease leading to anaphylactic shock, where the body undergoes a fatal allergic reaction including throat closing and difficulty breathing. The aggressive form of this immune disorder predicts a life expectancy of five years.
Although there is no definitive cure for the disease, researchers have discovered that individuals diagnosed with systemic mastocytosis exhibit an elevated blood concentration of cytokine CCL-2. It was shown that the higher the levels, the more advanced and fatal the disease is. CCL-2 is a vital mediator of inflammatory responses and leads to the growth of solid tumors, particularly mast cell tumors. Research is currently being done to investigate antibodies that could help combat systemic mastocytosis by monitoring CCL-2 levels.
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At this time, the FDA has approved only one drug, imatinib, to maintain the disease. Imatinib is a tyrosine kinase protein inhibitor that can help keep the disease under control. However, the majority of patients with advanced systemic mastocytosis have a mutation in their D816V gene that causes their bodies to be unresponsive to imatinib.
Fortunately, there are new clinical trials being performed where a novel multi-kinase inhibitor drug, midostaurin, is being tested on individuals with the advanced form of systemic mastocytosis. On the clinical trial, people lived an average of 28 months longer on the midostaurin, including the 40% that did not respond to the drug and the 60% who responded to midostaurin within the first few months of treatment.
Ultimately, the disease is so rare that there has not been extensive research on it. Many individuals with the disease are under-diagnosed. With advancements in technology and research funding, however, the life expectancy of the condition can increase and individuals living with the disease can gain greater control over their symptoms to live a relatively normal life.
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