Systemic mastocytosis and mast cell activation syndrome both have a significant negative impact on patients’ health-related quality of life, a new study published in the Orphanet Journal of Rare Diseases found. However, the level of information patients receive about their disease seems to have a direct impact.

“This is not only an issue in rare diseases, but also diseases with unclear etiology and pathology,” the researchers wrote. They added that even slight improvements in the level of information a patient receives can improve their quality of life, “further highlighting the importance of gaining more knowledge on rare and incompletely understood diseases and communicating these insights to patients.”

The study found no correlation between the severity of symptoms and the impact on quality of life.

In order to assess the effect of systemic mastocytosis and mast cell activation syndrome on patients’ health-related quality of life, a team of researchers led by Martin Mücke MD, professor of digitalization and general practice at University Hospital Aachen in Germany used 2 validated questionnaires from the European Organisation for Research and Treatment of Cancer. 

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A total of 66 patients with mast cell activation syndrome, 32 patients with the more severe systemic mastocytosis, and 52 healthy volunteers completed the questionnaires. 

The results showed that the health-related quality of life of patients with either disease was worse than that of healthy volunteers. 

Patients with mast cell activation syndrome had a slightly lower score on global health status but this was not significant. However, they had a significantly lower score on role function and fatigue.

Interestingly, patients with systemic mastocytosis, which is a rare disease, felt they were significantly better informed about their disease compared to those with mast cell activation syndrome. 

Systemic mastocytosis and mast cell activation syndrome are clinically similar though the latter is more prevalent. 


Schmidt TJ, Sellin J, Molderings GJ, Conrad R, Mücke M. Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndrome. Orphanet J Rare Dis. 2022;29;17(1):295. doi:10.1186/s13023-022-02439-x