Although systemic mastocytosis (SM) is typically mild in younger individuals, a recent case report published in the journal Cureus shows that severe cases can still occur.
A 21-year-old Indian woman went to the hospital with bloody stools, dizziness and weakness. Doctors discovered her spleen was massively enlarged and scans showed dangerous pressure building up in the blood vessels around her liver, even though her liver wasn’t damaged by the usual culprits like alcohol or hepatitis.
When doctors examined her digestive system using an endoscope, they found badly swollen veins in her esophagus that were on the verge of rupturing.
Blood tests showed that the patient had too few red cells, white cells and platelets.
Doctors diagnosed the patient with SM after examining her bone marrow. Under the microscope, they found large numbers of abnormal mast cells, a type of immune cell that normally helps fight infection. The mast cells were growing wildly out of control and infiltrating her organs, including the liver.
Read more about SM testing and diagnosis
Although logistical and financial constraints meant that KIT mutation testing and other specialized laboratory tests couldn’t be performed, the woman’s symptoms suggested she had a more aggressive form of SM, rather than the indolent subtype.
Doctors performed a special procedure to stop the swollen veins in her esophagus from bleeding and gave the patient blood transfusions. She stayed stable and didn’t bleed again before leaving the hospital.
To treat the underlying SM, doctors recommended a targeted drug called midostaurin, which prevents 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. overgrowth. Unfortunately, the patient couldn’t afford this therapy, so treatment was never started. After discharge, she never returned to the hospital, so doctors could not follow up on her condition.
The study’s authors advise other doctors to consider SM as a potential cause when they see patients with unexplained low blood counts and swollen organs, even if the patient is young.
They also emphasize the importance of examining the bone marrow without delay in such cases. “Early diagnosis is essential for accurate disease identification, prompt initiation of appropriate therapy, and prevention of serious complications,” they said.
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