Abstract
INTRODUCTION: Familial hypercholesterolaemia (FH) is a common genetic condition causing elevated low-density lipoprotein cholesterol levels, which increases the risk of premature atherosclerotic cardiovascular disease. Little is currently known about how persons with FH are counselled by their healthcare professionals regarding pregnancy and breastfeeding, and how FH impacts the partner relationship and family planning. Current guidelines advise interrupting most cholesterol-lowering medication during conception, pregnancy, and breastfeeding. The guidelines, however, do not provide guidance on how healthcare professionals should address family planning, pregnancy, and breastfeeding with persons with FH and their partners in their day-to-day practice. Therefore, whether and how these topics are communicated in clinical practice remains unclear. This study aims to investigate FH awareness, knowledge, and current practices of care concerning family planning, pregnancy, and breastfeeding among persons with FH, their partners, and healthcare professionals. METHODS AND ANALYSIS: This is the protocol of a global, mixed-methods study conducted in the Netherlands, Norway, and Australia in persons with FH, their partners, and their treating healthcare professionals. Persons with FH are interviewed about their current experiences with FH care related to family planning until inductive thematic saturation is achieved. A minimum of 120 partners of persons with FH will participate in an anonymous survey about the impact of FH on their relationship and family planning. In addition, a minimum of 120 healthcare professionals will be surveyed about their current practices and counselling of persons with FH on family planning, pregnancy, and breastfeeding. ETHICS AND DISSEMINATION: All applicable ethics committees (Erasmus University Medical Center (MEC-2023-0070), Royal Perth Hospital human research ethics committee (RGS0000005951), and Oslo University Hospital (23/28008)) approved this study prior to its commencement. The results of this study will be disseminated via peer-reviewed journal articles, research seminars, conference presentations, and relevant media. Community dissemination is envisaged through FH patient and advocacy groups involved in community engagement in each study country.