Systemic mastocytosis (SM) and mast cell activation syndrome (MCAS), both mast cell activation diseases (MCAD), lack research on patient experience.Research published in Orphanet Journal of Rare Diseases We aimed to fill this knowledge gap by investigating the impact 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 is variable and diagnosis requires a confirmatory bone marrow biopsy. It ranges from mild to severe, and prognosis varies from normal life expectancy to years or months. MCAS, with clinical features similar to SM, is more common, but the etiology and pathology are unknown. Symptoms of both conditions include flushing, itching, abdominal cramps, nausea and vomiting, and general pain.

Although some previously published data indicate that SM adversely affects HRQOL, data for MCAS are not available. The study authors expected a similar impact on MCAS, albeit with variations due to the heterogeneous nature of MCAS presentation. Their study investigated her HRQOL and health literacy in patients with SM and MCAS using two of his validated questionnaires of the European Agency for Research and Treatment of Cancer QLQ-C30 and QLQ-INFO25.

“Fatigue, which is known to have a major impact on quality of life and activities of daily living, affects the central nervous system in a wide range of chronic diseases such as cancer and end-stage kidney, liver, or lung disease. [central nervous system] Medical conditions and many other factors will also be more consistent contributors to SM compared to MCAS,” the study authors wrote.

Questionnaires from 66 MCAS patients, 32 SM patients, and 52 healthy controls were included in the study. Regarding overall health status, there were significant differences between the control cohort and her two mast cell diseases.

The QLQ-C30 was used to assess six functional domains (global health, physical functioning, role functioning, emotional functioning, cognitive functioning, and social functioning). Various symptoms, including fatigue, were also examined via the QLQ-C30. Individuals in the control group reported significantly better overall health status than the MCAS and SM groups, confirming the putative impact of these conditions on her HRQOL. There were no significant differences between the MCAS and SM groups in terms of overall health status, although the group with MCAS reported slightly lower overall health scores.

Similar results were seen with disease symptoms. One of two her MCAD patients reported experiencing significant symptoms such as fatigue. Based on reported symptoms, patients with MCAS or SM had significantly lower her HRQOL compared with controls. Patients with MCAS were slightly more prone to fatigue than those with SM, which was an unexpected result.

Health literacy in patients with MCAS and SM, which is primarily the responsibility of the attending physician, was assessed with the QLQ-INFO25. In her 99% of cases, the patient reported wanting to receive more information about her condition, including causes, genetic possibilities, and treatment options. MCAS patients were globally less informed about their illness than SM patients. SM patients were also satisfied with the level of information they received from their physicians. A linear regression model showed that health literacy positively impacted her HRQOL.

“As hypothesized previously, we expected a correlation between health literacy and quality of life. It was particularly interesting in light of the slightly improved performance, and health literacy-induced effects could be a possible explanation,” the authors wrote.

Overall, this study showed that SM and MCAS negatively impacted patients’ HRQOL, with patients with MCAS reported to have a greater impact on daily life. Individuals with SM were typically more informed about their illness, which was associated with higher levels of satisfaction and had a positive impact on HRQOL.

“Our results show that the level of information a patient receives influences HRQOL, and that this is not only a matter of rare diseases, but of diseases of unknown etiology and pathology.” The authors write “Our data show that even modestly improved patient information levels can have a positive impact on quality of life, providing more insight into a rare and incompletely understood disease. We have gained a lot of knowledge, further emphasizing the importance of communicating these insights to our patients.”

reference

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 LeadisPublished online July 29, 2022. doi:10.1186/s13023-022-02439-x