Individuals with nonadvanced systemic mastocytosis (SM) experience a myriad of severe, debilitating symptoms that can impact their health-related quality of life (HRQoL), according to findings from 90-minute qualitative virtual interviews conducted among US adult patients with the disease.

Results of the study will be presented at the 2023 American Academy of Allergy, Asthma & Immunology (AAAAI) Annual Meeting, which is scheduled to be held in San Antonio, Texas, February 24-27 and are published in The Journal of Allergy and Clinical Immunology.

The researchers sought to identify commonly experienced and bothersome symptoms and functional impairments reported by patients with nonadvanced SM. It is recognized that individuals with the disorder, which includes the subvariants indolent SM and smoldering SM, can experience a variety of unpredictable, disabling, potentially life-threatening symptoms. More than 25% of patients with the disease experience anaphylaxis; many individuals report declines in their HRQoL.

A total of 18 patients with a physician-confirmed diagnosis of nonadvanced SM were included in the study. Trained interviewers used a semi-structured interview guide to capture spontaneous and probed symptoms, as well as functional impacts.

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Results of the study showed that patients reported 32 symptoms across multiple domains, including skin, neurocognitive, fatigue, gastrointestinal, and pain. The symptoms experienced most often were redness, flushing, and difficulty concentrating in all 18 participants, as well as itching and spots in 17 participants.

On a scale of 0 to 10, patients indicated average bothersome scores of 7.5 or higher for mast cell reaction, fatigue, joint pain, and headache. In the study sample, 10 of the 18 participants experienced anaphylaxis, and osteopenia was reported in 4 individuals. The participants reported that nonadvanced SM negatively impacted 14 areas of HRQoL, including personal relationships, social relationships, psychological well-being, and work.

According to the authors, “Findings [from these interviews] can be used to inform care, improve disease management, increase HRQoL, and reduce suffering in patients with [nonadvanced] SM.”


Siebenhaar F, Akin C, SantaBarbara JN, et al. Qualitative research to understand the patient experience in non-advanced systemic mastocytosis. J Allergy Clin Immunol. 2023;151(suppl 2):Abstract AB53. doi:10.1016/j.jaci.2022.12.169