This project will form a patient-driven community-building partnership among individuals affected by familial hypercholesterolemia (FH), their families, a physician (Dr. Block, who has expertise in the care of patients with FH, as well as in enhancing public health); a psychologist (Dr. McIntosh, who has expertise in human systems and health outcomes), and the Familial Hypercholesterolemia Foundation, which is focused on the health of those with FH. FH is an inherited genetic disorder characterized by very elevated levels of LDL cholesterol and a marked increase in cardiovascular disease events. Unfortunately, only 10% of affected individuals in the United States are diagnosed, resulting in potentially preventable major adverse health consequences.
Discussing a potential diagnosis with patients and their family members can be fraught with challenges, due to such issues as their anxieties regarding being screened and potential health effects, and confusion about effective treatment options. Dr. Block, Dr. McIntosh, and the Familial Hypercholesterolemia outreach director will serve on the advisory board along with two individuals with FH (referred to as “superusers” because they will “super use” multiple communication channels) who will play major leadership roles in engaging with patients and families affected by FH. The advisory board will establish a communication plan to raise awareness and engage individuals affected by FH. The two superusers will organize online and in-person meetings of individuals with FH (referred to as “champions” and inclusive of the superusers) and other stakeholders, including family members (referred to as “supporters”). Analysis of discussions at these meetings will inform the work of the advisory board and lead to future areas of research.