Researchers reported that patients with newly diagnosed advanced systemic mastocytosis (SM) had high rates of comorbidities and healthcare service utilization prior to a confirmed diagnosis, according to a study published in Clinical Lymphoma, Myeloma & Leukemia.

Advanced SM is a rare disorder caused by the KIT D816V mutation. It encompasses aggressive SM, mast cell leukemia, and SM with an associated myeloid neoplasm.

“Uncontrolled proliferation, accumulation, and activation of mast cells result in severe symptoms in various organ systems, making SM difficult to diagnose,” the authors of the study wrote. 

They hence set out to describe the characteristics of patients with advanced SM prior to diagnosis, as well as their utilization of healthcare services. They accessed medical and pharmacy encounter data of patients from the US Medicare Fee-For-Service population, using a claims-based algorithm to identify patients who were newly diagnosed with advanced SM. 

Read more about SM etiology 

The research team found 468 patients with advanced SM who fit their study criteria. Among this patient population, the mean Charlson Comorbidity Index score was 4.1. The most commonly reported comorbidities were hypertension (65%), malignancies (62%), and depression (43%). 

Prior to the diagnosis of advanced SM, most of the patients were prescribed some sort of antimediator drug therapy; these most commonly were corticosteroids (67%) and proton pump inhibitors (41%). 

The researchers concluded that Medicare patients who were newly diagnosed with advanced SM had high rates of comorbidities, specialist visits, and symptomatic treatments prior to a confirmed diagnosis. 

“Care should be closely coordinated by specialists to optimize timely [advanced SM] diagnosis and management,” they wrote. 


Sullivan E, Cohen J, Norregaard C, et al. MDS-094 Characteristics and management of Medicare beneficiaries with advanced systemic mastocytosisClin Lymphoma Myeloma Leuk. 2022;22(Suppl 2):S303. doi:10.1016/S2152-2650(22)01394-5