A new study has revealed significant challenges for patients with systemic mastocytosis (SM) in the period between symptom onset and a confirmed diagnosis. The study, published in Primary Health Care Research & Development, also found a significant lack of awareness of SM among healthcare professionals.

“Increased knowledge about how the period from onset of symptoms to diagnosis is experienced may aid the diagnostics of the disease and provide a basis for the development of support interventions,” the authors wrote. “The aim of this study was therefore to explore how persons with SM describe the time between the onset of symptoms and signs and receiving the diagnosis.”

The research team conducted semistructured interviews in a purposive sample of 16 individuals with indolent or advanced SM from 2 university hospitals in Sweden about their experience of the period between symptom onset and diagnosis. The analysis was conducted using systematic text condensation.

The analysis revealed 3 main themes among the patients: 1) having symptoms with an unknown cause, 2) dealing with the symptoms, and 3) being a patient without a diagnosis. The most common symptoms were cutaneous and gastrointestinal in nature, in addition to “attacks,” which could last for hours and consisted of abdominal pain, increased heart rate, and feeling drained to the point of fainting.

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These attacks led to anxiety and vulnerability, compounded by the anxiety of living without a diagnosis. The lack of awareness and, sometimes, healthcare professionals’ disbelief in the patient’s reports made this period even more difficult.

The authors conclude that the lack of knowledge and competence in diagnosing and treating patients with SM underscores the importance of increasing awareness of SM within health care, with the aim of shortening and mitigating this highly stressful and difficult time for patients.


Hamberg Levedahl, K, Nilsson A, Johansson B, Hedström M. How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis. Prim Health Care Res Dev. Published online September 7, 2022. doi:10.1017/S146342362200024X