Unveiling perceptions: a small-scale qualitative case study related to patient experience of inpatient screening for familial hypercholesterolemia.

BACKGROUND

Familial hypercholesterolaemia (FH) is a hereditary, genetic disorder disrupting the metabolism of low-density cholesterol from birth. Untreated, 50% of men develop atherosclerotic cardiovascular disease (ASCVD) by age 50 and 30% of women by age 60. Evidence supports screening individuals with premature ASCVD; however, screening is limited, particularly in inpatient settings.

AIM: Our aim was to explore the experiences of individuals presenting with premature ASCVD who were screened for FH during hospitalisation.

METHOD: A small-scale qualitative case study followed COREQ (COnsolidated criteria for REporting Qualitative research) guidelines. Patients with premature ASCVD participated in inpatient screening, sharing their perceptions and experience via a semi-structured qualitative interview.

RESULTS

Three key inter-related and interconnected themes-family history, health systems functioning, and value of screening-relate to effective communication as an overarching and encompassing theme throughout. Participants highlighted both positive and negative experiences. Participants reported surprise at not having been screened earlier despite communicating family histories of premature cardiovascular disease.

CONCLUSIONS

The screening for FH was seen as positive and potentially beneficial to their families. Knowledge of increased hereditary risk facilitated conversations and prompted further investigations. The results of the analysis can contribute to future policy development and implementation.