Aggressive systemic mastocytosis
Overview
Systemic mastocytosis, often termed systemic mast cell disease (SMCD), is a clonal disorder of the mast cell and its precursor cells. The clinical symptoms and signs of systemic mastocytosis (systemic mast cell disease) are due to the accumulation of these clonally derived mast cells in different tissues, including bone marrow, skin, the gastrointestinal (GI) tract, the liver, and the spleen
Symptoms
Systemic Mast Cell Disease Systemic Mastocytosis Urticaria pigmentosa Organ failure Enlarged liver Enlarged spleen Enlarged lymph nodes Impaired liver function
Causes
Some studies have shown that mutations of the c-kit proto-oncogene may cause some forms of mastocytosis (mast cell disease).Mutations of c-kit in mast cell tumor lines and the ability of c-kit to cause mast cell proliferation and transformation suggest that these mutations are necessary in some forms of mastocytosis. Several types of mutations in c-kit have been demonstrated to cause mastocytosis
Treatment
Treatment of MCD patients is highly individualized. The abbreviated treatment guidelines provided below are for general reference only, and readers are referred to specialized hematology texts and literature sources for details