EHA 2024: Systemic mastocytosis (SM) patients in Europe face up to five years to obtain a diagnosis

EHA 2024: Systemic mastocytosis (SM) patients in Europe face up to five years to obtain a diagnosis

Blueprint Medicines unveiled data at the European Hematology Association (EHA) congress this weekend, where results were presented from the Perceptions Realities and Insights on Systemic Mastocytosis (PRISM) study – the largest European study to evaluate the patient experiences and healthcare provider (HCP) perceptions of systemic mastocytosis (SM).

SM is a rare disease caused by abnormal buildup of mast cells – a key driver of allergic/inflammatory responses – leading to debilitating symptoms such as rashes, diarrhoea, brain fog and life-threatening anaphylaxis.

The results from PRISM highlight that regardless of subtype, patients with SM have a high burden of disease and poor quality of life, including reduced physical functioning and mental health. 59% of patients reported that living with SM significantly impacted their ability to work, and despite taking seven medications on average to manage their condition, more than half of patients (51%) reported experiencing anaphylactic episodes during the prior year.

People living with SM often experience a complex and lengthy path to diagnosis, visiting 3.8 HCPs on average before receiving one. In 19% of patient-reported cases, receiving an SM diagnosis took over five years. HCPs also reported a complex diagnostic journey for SM patients, where the study reports a prolonged time from first seeing a patient to diagnosis of SM.

These data presented at EHA highlight the ongoing need to advance treatment options beyond supportive care, to improve quality of life and prolong survival for people living with SM.

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