Bringing Attention to a Little Known Disease, Advanced Systemic Mastocytosis
Sep 14, 2016
In observance of Blood Cancer Awareness Month, we are bringing attention to a very rare and relatively unknown disease – advanced systemic mastocytosis (advanced SM). Advanced SM is a form of mastocytosis, a condition that causes mast cells, or cells that control inflammatory and allergic reactions, to increase at an abnormal rate.1 With advanced SM, mast cells infiltrate the bone marrow and organs at such a high rate that they are no longer able to function correctly.2
Unlike other forms of mastocytosis, advanced SM patients face poor outcomes from the moment they are diagnosed. Survival time varies between fewer than six months to approximately 3.5 years, depending on the subtype.1 Due to the lack of approved agents and recognized standard of care, cytoreductive therapies are used to control the growth of neoplastic mast cells, with limited success.2 The primary form of treatment today is to address the symptoms of the disease, as they substantially impact daily living and can lead to severe complications. They include:2
Gastrointestinal symptoms such as abdominal pain, diarrhea, nausea, vomiting
Itching, flushing of the skin, fever
Enlarged liver and spleen
Osteoporosis, bone fractures
The advanced SM community has long been underserved. There are no therapies that delay or reverse the disease for the majority of patients and research has moved slowly, likely due to advanced SM’s rarity.2, 3 Research has started increasing, driven by a better understanding of advanced SM’s pathogenesis.2
In the meantime, we are doing our part in getting the word out about advanced SM, and invite you to view more information here
1.Lim KH, Tefferi A, Lasho, et al. Systemic mastocytosis in 342 consecutive adults: survi val studies and prognostic factors. Blood. 2009;113:5727-5736.
2.Arock M, Akin C, Hermine O. Current treatment options in patients with mastocytosis: status in 2015 and future. European Journal of Haematology. 2015;94(6):474-90.
3.Verstovsek S. Advanced systemic mastocytosis: the impact of KIT mutations in diagnosis, treatment, and progression. Eur J Haematol. 2013;90(2):89-98.4.Garcia-Montero AC, Jara-Acevedo M, Teodosi C, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108(7):2366-2372.
4.Garcia-Montero AC, Jara-Acevedo M, Teodosi C, et al. KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood. 2006;108(7):2366-2372.