Systemic mastocitis and mast cell activation syndrome both have a negative impact on health-related quality of life (HRQOL), with mast cell activation syndrome patients reporting a more significant impact on daily life.
Systemic mastocytosis (SM) and mast cell activation syndrome (MCAS) – both Mast cell activation diseases (MCADs) – Lack of research on patient experience. A Research Published in Orphanet Journal of Rare Diseases To fill this knowledge gap, we investigated the effects of SM and MCAS on health-related quality of life (HRQOL) in patients.
SM is rare and characterized by abnormal mast cell proliferation or activation, leading to systemic allergy-like symptoms. The clinical presentation of SM varies, and a confirmatory bone marrow biopsy is required for diagnosis. Prognosis ranges from mild to severe, ranging from a normal life expectancy to a few years or months. MCAS with clinical features similar to SMS is very common but has unclear etiology and pathology. Symptoms of both may include flushing, itching, abdominal cramps, nausea and vomiting, and general malaise.
Although some previously published data have shown that SM has a negative effect on HRQOL, data are not available for the MCAS. The authors of the study expected that the MCAS would have similar effects, with differences due to the different nature of the MCAS approach. Their study used 2 validated questionnaires, the European Organization for Research and Treatment of Cancer QLQ-C30 and QLQ-INFO25, to explore the HRQOL and health knowledge of SM and MCAS patients.
Chronic diseases such as cancer, end-stage renal, liver or lung diseases, known to have a significant impact on quality of life and daily activities, include fatigue, as well as CNS [central nervous system] Pathology and others appear to be a more consistent factor in SM compared to MCAS, the study authors wrote.
66 patients with MCAS, 32 patients with SM and 52 healthy controls were included in the study. As for the general state of health, there were significant differences between the control group and the 2 mast cell diseases.
Six functional areas are assessed by the QLQ-C30: global health, physical activity, role functioning, emotional functioning, cognitive functioning, and social functioning. Various symptoms, including fatigue, were also assessed with the QLQ-C30. Individuals in the control group reported significantly better global health than the MCAS and SM groups, confirming the effects of these factors on HRQOL. There were no significant differences in global health status between the MCAS and SM groups, but those with MCAS reported slightly lower global health scores.
Similar results were observed with disease symptoms. Of the 2 MCADs, both patients reported significant symptoms, including fatigue. Compared to the control group, patients with MCAS or SM experienced significantly lower HRQOL based on reported symptoms. Patients with MCAS were slightly more prone to fatigue than patients with SM, an unexpected result.
Health literacy in patients with MCAS and SM, which is mostly the responsibility of the attending physician, was assessed by the QLQ-INFO25. In 99% of cases, patients said they wanted to know more about their condition, such as causes, possible inheritance and treatment options. People with MCAS had less information about their disease than patients with SM. Patients with SM were more satisfied with the level of information they received from physicians. A linear regression model showed that health literacy had a positive effect on HRQOL.
“As previously hypothesized, we expected an association between health literacy and quality of life, which was particularly interesting given the better performance of the SM group on the QLQ-INFO25 and slightly better performance overall on the QLQ-C30. An effect caused by health literacy may be an explanation,” the authors wrote.
Overall, the study found that SM and MCAS negatively impacted HRQOL for patients, with those with MCAS reporting a more significant impact on daily life. Individuals with SM had more information about their disease, which was associated with higher satisfaction and had a positive effect on HRQOL.
“Our results show that patients’ information level affects HRQOL, and this is not only the case for rare diseases, but also for diseases with unclear pathophysiology and pathology,” the authors wrote. “Our data show that even modest improvements in a patient’s level of information can have a positive impact on their quality of life, highlighting the importance of gaining more knowledge about rare and underdiagnosed diseases and communicating these insights to patients.”
Schmidt TJ, Selin J, Moelding GJ, Conrad R, Mook M. Health-related quality of life and health literacy in patients with systemic mastocitis and mast cell activation syndrome. Orphanet J Rare Dis. Published online on July 29, 2022. doi:10.1186/s13023-022-02439-x