Cracking the Mystery of MCAS Diagnosis: How Does the Medical Community Determine the Disease's Existence?

In many patients, Intestinal scleroma cell activation syndrome (MCAS) is a little-known but very complex immune disorder. The disease primarily involves the immune system's intestinal sputum cells, a type of white blood cell, which when they excessively release chemical mediators such as histamine can lead to a variety of chronic symptoms, including cardiovascular, skin, gastrointestinal, neurological and respiratory problems. Although the academic community has a certain research foundation on how the human body determines the presence of this disease, the diagnosis process of MCAS is still difficult.

Main symptoms of MCAS

Because degranulation events in stomatocytes can be triggered at multiple locations in the body, symptoms of MCAS vary widely, ranging from digestive discomfort to chronic pain and possibly even anaphylaxis. These symptoms often fluctuate over time, varying in severity and duration.

“Many of the symptoms are very similar to those of mastocytosis, as both cause excess mediators to be released from the cells.”

The most common symptoms include:

  • Skin: flushing, urticaria, easy bruising, itching, etc.
  • Cardiovascular: dizziness, non-cardiac chest pain, arrhythmia, etc.
  • Digestive tract: diarrhea, constipation, nausea, etc.
  • Neuropsychiatric: brain fog, fatigue, difficulty concentrating, etc.
  • Respiratory system: difficulty breathing, cough, etc.

Causes of MCAS

There are many causes of MCAS, and allergic reactions are one of them. Research shows that KIT gene mutations may be related to MCAS, especially the mutation at position 816. Relevant studies have found that patients with MCAS have a wider range of KIT mutations than ordinary patients, which may be the reason for the diverse symptoms of MCAS.

Pathophysiology

MCAS can be divided into three subtypes, namely primary MCAS, secondary MCAS and idiopathic MCAS. The theory of primary MCAS is that there is a lower mediator release threshold. Therefore, when patients are exposed to external stimulation, their cell responses will be stronger than normal. Secondary MCAS is more common and its cause is unknown and may be related to environmental allergy or non-allergic mechanisms, while idiopathic MCAS has no abnormality in etiological examination and usually shows benign bone marrow biopsy results.

Diagnosis process

Diagnosis of MCAS is often difficult because symptoms are varied and nonspecific. According to the diagnostic criteria in 2010 and 2019, the following three conditions usually need to be met:

  • Severe and recurring symptoms involving at least two organ systems.
  • Measurable levels of cell chemicals (such as trypsin or histamine) are elevated at the peak of symptoms.
  • Using antihistamines or other drugs that inhibit stomatocyte activation can improve symptoms.

“Even though multiple diagnostic criteria exist, a commonly used strategy is based on the diagnostic trinity.”

Treatment Plan

Drugs to treat MCAS mainly include:

  • Cell stabilizers: such as cromoline sodium and natural stabilizers such as quercetin.
  • H1 and H2 antihistamines: such as cetirizine, fexofenadine and ranitadine.
  • Anti-leukotriene drugs: such as Montelucaste.
  • Monoclonal antibodies: such as omalizumab.
  • Steroids: can be used for anti-inflammatory purposes.

Future Outlook

The prognosis of MCAS is still unclear, and there are great individual differences in the course and symptoms of patients. The medical community continues to work hard to find better diagnosis and treatment options. However, with a deeper understanding of MCAS, more effective solutions and support may be available.

So, can we find an effective solution in the future so that all patients can get the diagnosis, treatment and support they need?

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