Researchers reported that patients with systemic mastocytosis experience a substantial disease burden as well as unmet needs that result in a poorer quality of life, according to a study published in Cancer.

Studies have demonstrated that patients with systemic mastocytosis have a shorter life span than that of the general population. In addition, even patients with nonadvanced systemic mastocytosis report symptoms that heavily impact their quality of life, including the ever-present risk of life-threatening anaphylaxis. 

“Despite burdensome symptoms and care-seeking behavior, patients with [systemic mastocytosis] report a substantial delay in diagnosis, with a median time of 7 years from symptom onset to a diagnosis of [systemic mastocytosis],” the authors of the study wrote. 

The authors of the study decided to investigate the disease burden and unmet needs of patients with systemic mastocytosis with the goal of improving future care. They recruited adults living in the United States who self-reported a diagnosis of systemic mastocytosis. To understand the impact of the disease on quality of life, the research team used the TouchStone Survey, which includes 100 questions and 3 validated instruments. 

Read more about systemic mastocytosis epidemiology 

The 3 validated instruments were the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF), the Short-Form Health Survey (SF-12), and the Work Productivity and Activity Impairment (WPAI) questionnaire. 

The participants (n=56) were asked to fill in the survey over 4 weeks during June and July 2020. The recall period was 2 weeks for the ISM-SAF and 3 weeks for the SF-12.

“Survey respondents were instructed to recall health care use, work impairment, and WPAI metrics based on their experiences,” the authors of the study wrote. 

The results from the ISM-SAF revealed that fatigue was among the most severe symptoms experienced by patients with systemic mastocytosis. In addition, the research team discovered that respondents who were unemployed because of the disease had a lower median SF-12 score than the overall sample. More than half of the patients surveyed reported having to reduce their work hours due to the disease. 

“Persistent disability, poor functional status, and frequent anaphylaxis highlight a clear unmet need in this patient population,” the authors of the study concluded. “Future studies in a larger sample of patients with [systemic mastocytosis] should continue to evaluate the substantial symptom burden and impact on quality of life.” 


Mesa RA, Sullivan EM, Dubinski D, et al. Patient-reported outcomes among patients with systemic mastocytosis in routine clinical practice: results of the TouchStone SM patient surveyCancer. Published online August 23, 2022. doi:10.1002/cncr.34420