How persons with systemic mastocytosis describe the time between symptom onset and receiving diagnosis.

AIM

The aim of the study was to explore how persons with systemic mastocytosis (SM) described the time between the onset of symptoms and signs and getting the diagnosis.

BACKGROUND

SM is a rare disease caused by the accumulation of clonal mast cells with abnormal function. The symptoms and signs of the disease are varied, often diffuse and affect individuals differently. Due to this complexity, a multi-disciplinary diagnostic approach is required, in which general practitioners play an important part in identifying and referring patients relevant for such investigations.

METHODS

Sixteen persons with SM were interviewed about their experiences of the time before the diagnosis was received. Systematic text condensation was used in the analysis process.

FINDINGS

The time between symptom and signs onset and diagnosis was perceived as difficult. SM often had a complex and unpredictable effect on a person's daily life, long before diagnosis. In the analysis, three themes were found. included the participants' descriptions of numerous symptoms and signs, often years before diagnosis. These could be severe and result in worries for both participants and their next-of-kin. encompassed the different ways in which the participants coped with the symptoms and signs, and sought relief. underlined the lack of information and knowledge within healthcare, often resulting in a delayed or incorrect diagnosis. The study highlighted the importance of a person-centred approach and the need to increase knowledge of the disease within primary care, to shorten this stressful and vulnerable time.