Mast cell biomarkers may improve diagnosis and monitoring of SM

Urinary markers like metabolites of histamine, prostaglandins and leukotrienes may be useful diagnostic tools for SM and other mast cell disorders.

A new research review published in Current Asthma & Allergy Reports highlights how 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. mediators may help improve the way 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. disorders, including systemic mastocytosis (SM), are identified and monitored. 

Mediators are chemical substances released by mast cells during activation, triggering symptoms such as flushing, itching, gastrointestinal issues and in some cases anaphylaxisAnaphylaxis A severe allergic reaction that can turn fatal without treatment. Patients with SM are at a higher risk of developing anaphylaxis.. While many mediators exist, only a handful are clinically useful as biomarkers to help clinicians diagnose mast cell disorders. These include 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., histamineHistamine A chemical released by mast cells when they are activated. Histamine causes many of the allergy-type symptoms in mastocytosis, including flushing, itching and hives. metabolites, prostaglandin metabolites and leukotriene metabolites.

Serum tryptase is the gold standard for diagnosing SM, as elevated levels often reflect a higher mast cell burden. The marker is also widely used to monitor disease activity and response to treatment.

However, the review emphasizes that tryptase alone is not always sufficient. Levels can vary significantly between individuals and may be elevated in a small portion of the general population due to hereditary traits. In addition, tryptase may not fully capture all forms of mast cell activation, particularly in cases with more localized symptoms. 

Urinary markers, such as metabolites of histamine, prostaglandins and leukotrienes, are increasingly recognized as valuable complementary tools. While not part of formal diagnostic criteria for SM, elevated levels can support the diagnosis and help guide further testing, such as bone marrow biopsyBone marrow biopsy A procedure to collect a sample of bone marrow using a needle. Often used to examine the characteristics of mast cells and diagnose SM., the researchers note.

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These markers may also be useful for distinguishing between clonal conditions like SM and nonclonal mast cell activation disorders, which include many allergic diseases.

Overall, the study’s authors say that findings underscore the expanding role of mast cell mediators in both diagnosing and managing disease. A better understanding of how and when to measure these biomarkers could lead to more accurate diagnoses and improved care for patients with mast cell-related conditions.

“Despite the advancements in understanding mast cell mediators, there is a need for further research to develop more precise biomarkers and therapeutic strategies,” the researchers conclude. “By enhancing our knowledge of mast cell biology and its clinical implications, we can better manage and treat patients with mast cell activation disorders.”

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