Familial hypercholesterolaemia patient–determined themes for community-engaged research

Objective: To determine individual and group patient ideas and priorities regarding ways to enhance their own health care while providing a supportive environment including a clinical lipidologist and other medical experts. The intent was to transform these ideas and priorities into hypotheses for future research while enhancing current health promotion practice. Design: Communication between patients and medical professionals occurred via individual and group meetings, including group meetings in a non-medical campus location in the community of Rochester, New York. Setting: Familial hypercholesterolaemia (FH) is an autosomal dominant disorder that causes elevated low-density lipoprotein (LDL) cholesterol from birth and premature cardiovascular disease. Unfortunately, <10% of affected patients are diagnosed, which carries implications for knowledge and treatment. Patients’ perceptions regarding their own health and others affected by FH have not been described via a direct partnership between patients and medical professionals. Method: Qualitative data were collected and thematic coding methods were used to identify underlying themes. Results: Themes identified from patient-led discussions included knowledge regarding FH; the importance of being diagnosed with FH; communication between patients, their family members and medical professionals; outreach including via their own roles as advocates and using electronic medical records; and awareness of effective treatments. Conclusion: Patients with FH have a great deal to contribute concerning how the medical system approaches them before and after diagnosis as well as research hypotheses that should be of high priority. Taking their ideas into account could improve the very insufficient and life-threatening rate of diagnosis, as well as enhance patient self-empowerment.