Mastocytosis: Types, Symptoms, and Diagnosis

By SWA

Types of Mastocytosis

Mastocytosis is categorized into two general types:

  1. Cutaneous Mastocytosis: This form is restricted to the skin.
  2. Systemic Mastocytosis: This affects the entire body, indicating a more widespread involvement.

Learn more about Mastocytosis

Symptoms of Mastocytosis

The symptoms of systemic mastocytosis can vary widely but typically include:

  • General Discomfort: Fatigue, flushing, and skin warmth.
  • Gastrointestinal Issues: Nausea, abdominal pain, bloating, diarrhea, and gastroesophageal reflux.
  • Respiratory and Cardiovascular Symptoms: Nasal congestion, shortness of breath, and hypotension (low blood pressure).

According to a study published in a community hematology journal, systemic mastocytosis (SM) involves the excessive activation of mast cells (MCs), leading to symptoms like skin lesions, itching, headaches, bone pain, and muscle weakness. 

The more severe cases involve significant cytokine release and organ dysfunction due to disease progression.

Read more about systemic mastocytosis

Genetic Basis and Testing for Mastocytosis

Mastocytosis typically arises from mutations in the KIT gene, predominantly somatic mutations, which means they occur spontaneously and are not inherited. Despite this, familial cases have been observed, though they are rare. For diagnosis, an allele-specific oligonucleotide qPCR test is utilized, particularly effective in detecting the KIT D816V mutation in cases of indolent systemic mastocytosis with skin involvement.

Complications: Anemia in Mastocytosis

Mastocytosis can complicate blood cell production due to the infiltration of abnormal mast cells in the bone marrow, potentially leading to leukopenia (low white blood cell count) and anemia (low red blood cell count). These abnormal cells can also affect bone integrity, increasing the risk of fractures.

Understanding the comprehensive scope of mastocytosis—from types and symptoms to genetic testing and potential complications—is crucial for effective management and treatment of this condition.


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