Physicians continue to raise standards in systemic mastocytosis (SM) diagnosis and care, allowing patients with advanced SMAdvanced SM In these subtypes of SM, mast cells begin to damage organs. Advanced SM includes the subtypes aggressive SM, mast cell leukemia and SM with an associated hematological neoplasm. to achieve better long-term outcomes with existing therapies, according to a study recently published in Blood Advances.
Increasingly, clinicians are using a multidisciplinary approach to review all symptoms relevant to a diagnosis of SM, the study found.
What is SM?
Systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults. (SM) is a rare hematological disease characterized by mast cells that are overactive and accumulate in different parts of the body such as the bone marrow, liver, spleen, gastrointestinal tract and lymph nodes.
“Future research will focus on optimizing drug use — maybe in combinations, safety, and cost-effectiveness, considering limited resources,” study authors said.
Read more about SM testing and diagnosis
SM can be broadly categorized into two groups: nonadvanced SMNonadvanced SM In these subtypes of SM, mast cells accumulate in the body but do not usually cause severe organ damage. Nonadvanced SM includes the subtypes indolent SM and smoldering SM. and advanced SM. The World Health Organization (WHO) and the International Consensus Classification (ICC) have established various criteria that determine how SM should be subclassified, which often dictate expected treatments and outcomes.
Current clinical challenges in the management of SM include the significant heterogeneity of the disease, meaning that some patients have milder disease while others have a greater disease severity.
This is particularly true in a subtype of advanced SM known as SM with an associated hematologic neoplasm (SM-AHN). The classical approach to treatment is to focus on the most aggressive component of SM-AHN. The testing of combination therapies is a challenge because of safety concerns.
Bone marrow examination and serum tryptaseTryptase A protein enzyme that is primarily produced by mast cells and stored in small pockets within the cells, known as granules. High levels of tryptase are a key indicator of SM. levels are key procedures in diagnosis. Clinicians often perform genetic testing to determine if particular mutations associated with SM are present.
The diagnostic aspect of clinical care is important because SM exists on a spectrum, from indolent to advanced forms, the study said. Physicians often prescribe mast cellMast cell A type of white blood cell produced in the bone marrow. They help defend against infections and play a key role in allergic reactions. In SM, mast cells become overactive and build up throughout the body. stabilizers and monoclonal anti-immunoglobulin E antibodies such as omalizumab to reduce symptoms associated with SM.
A class of drugs called KIT inhibitors, including imatinib and dasatinib, are powerful inhibitors of mast cell activationMast cell activation Describes when mast cells release histamine and other mediators into the blood stream in response to an allergen or other trigger. This leads to symptoms like fatigue, rash and, in severe cases, anaphylaxis. and expansion. Allogeneic hematopoietic stem cell transplantation, a procedure that involves transferring healthy stem cells from a donor, is the only potentially curative option for advanced SM, but it entails significant risks that make it unsuitable for some patients.
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