Even though patients with systemic mastocytosis report delays lasting years before they receive a proper diagnosis, physicians estimate that the diagnosis is in fact reached within months of the onset of symptoms. This is according to the results of the TouchStone Healthcare Provider Survey published in Cancer.

“This study identified unmet needs that can inform educational and patient management priorities in this rare disease,” first author Ruben A. Mesa, MD, and the coauthors of the study wrote.

The aim of the study was to evaluate the perceptions of systemic mastocytosis and the management strategies employed by US healthcare providers.

The team recruited 111 specialists treating patients with systemic mastocytosis including hematologists, oncologists, immunologists, and allergists. The specialists had 14 years of practice experience on average and cared for an average of 20 patients with systemic mastocytosis.

Read more about the WHO classification of systemic mastocytosis

The specialists were asked to complete a questionnaire containing 51 items about their clinical practices and perceptions of the impact of the disease.

They reported that most of their patients had nonadvanced disease. However, they said the symptoms of the disease were still significantly disrupting their patients’ lives. More precisely, they reported that the majority of patients (62%) with indolent systemic mastocytosis “felt depressed or discouraged because of symptoms.”

The specialists estimated that, on average, there were 8 months between the onset of symptoms of the disease and diagnosis. This was considerably shorter than published data on patient reports.

They all prioritized symptom improvement for patients with nonadvanced systemic mastocytosis and improved survival and quality of life for patients with advanced disease.

Systemic mastocytosis is a rare hematological disease characterized by the proliferation of mast cells within the connective tissues throughout the body.


Mesa RA, Sullivan EM, Dubinski D, et al. Perceptions of patient disease burden and management approaches in systemic mastocytosis: results of the TouchStone Healthcare Provider Survey. Cancer. Published online August 23, 2022. doi:10.1002/cncr.34421