Barriers, facilitators, and solutions to familial hypercholesterolemia treatment

Abstract

Background Familial hypercholesterolemia (FH) is an inherited lipid disorder that confers high risk for premature cardiovascular disease but remains undertreated. Causes are multifactorial and multilevel, ranging from underprescribing (at the clinician-level) to medication nonadherence (at the patient-level). We evaluated patient and clinician stakeholder barriers and facilitators for treatment of FH to explore possible solutions to the problem. Methods and results Semi-structured interviews and focus groups guided by the Practical, Robust, Implementation and Sustainability Model (PRISM), were conducted with 33 patients and 17 clinician stakeholders across three healthcare systems. A total of14 patients and 9 clinician stakeholders participated in on-site focus groups and the remainder were individual interviews. Transcripts were coded using an iterative process to create a static codebook. We characterized patient and clinician stakeholder barriers into three categories: medical care-, medication-, and life-related. Feasibility of brainstormed solutions varied and was not always representative of the needs of all stakeholders. Patients suggested a need for childhood screening for FH and doctors being persistent about the importance of treating FH, creation of a patient peer group, data transparency, advocacy, and policy changes that would enable patients to receive better treatment. Clinician stakeholders suggested the need for clinical champions. Both groups of stakeholders discussed the need for education about FH. Conclusions Proposed solutions to improve treatment of FH proffered by participants in this study included resources for both patients and clinician stakeholders that clarify cardiovascular disease risks from FH, develop programs to screen for and identify FH at younger ages, and foster open conversations between patients and clinicians about treatment.

Evaluating severe hypercholesterolemia in an uninsured, vulnerable population receiving care at a community clinic

“…In our limited interviews, we were able to elicit issues affecting hypercholesterolemia treatment and medication adherence from the perspective of patients. These gaps in care and intolerance to medications are similar to barriers to FH care identi ed by Jones et al in their interviews with patients diagnosed with Familial Hypercholesterolemia in a large healthcare system 29 . However, Jones et al did not identify inability to get prescriptions as a barrier to FH patient care 29 .…”

“…These gaps in care and intolerance to medications are similar to barriers to FH care identi ed by Jones et al in their interviews with patients diagnosed with Familial Hypercholesterolemia in a large healthcare system 29 . However, Jones et al did not identify inability to get prescriptions as a barrier to FH patient care 29 . We believe this may be due to the higher number of uninsured patient's that are treated at NDSM relative to the 97% insured patient population that was interviewed by Jones et al Although the reasons for provider under prescribing and patient nonadherence are complex, these anecdotes perhaps give insight into speci c opportunities at charity, community clinics and may be an area of improvement.…”

Patient experiences align with the familial hypercholesterolemia global call to action

“…Additional themes included the need for more treatment options, frustration regarding lack of awareness of FH at every level, and issues related to cost of care and difficulties navigating the health care and insurance systems. These themes are not new to the field of FH and have been cited in previous work[ 7 , [16] , [17] , [18] ].…”

“…Institutional review board approved interviews and focus groups were conducted, as a part of funded research studies[ 5 , 6 ], with individuals and families with FH from multiple U.S. health systems (Geisinger, Mercy Health System, Barnes Jewish Hospital) and the Family Heart Foundation community (FH volunteer advocates from all over the country were convened for an advocacy training in Arlington, VA) to identify barriers to diagnosis, cascade testing, and treatment ( Table 1 )[ 5 , 6 ]. Patient-centered perspectives were sought in these studies to develop solutions that can be implemented to improve FH care[ 7 , 8 ].…”

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System

“…FH is the only condition in which we have reported on multi-level barriers and facilitators to guideline-recommended care ( Jones et al, 2020 ). Patients reported multiple barriers, including experiencing care gaps due to changing evidence, lack of insurance coverage for treatment, side effects related to treatments and other family or health demands that impeded them from managing their FH.…”