Perceived Vulnerability to Heart Disease in Patients with Familial Hypercholesterolemia: A Qualitative Interview Study

Abstract

PURPOSE Knowledge about the ways patients perceive their vulnerability to disease is important for communication with patients about risk and preventive health measures. This interview study aimed to explore how patients with a diagnosis of heterozygous familial hypercholesterolemia understand and perceive their vulnerability to coronary heart disease.

METHODS We did a qualitative study of 40 patients with familial hypercholesterolemia who were recruited through a lipid clinic in Norway. We elicited participants’ perceptions about their vulnerability to heart disease in semistructured interviews. Data were analyzed by systematic text condensation inspired by Giorgi’s phenomenological method.

RESULTS We found that participants negotiated a personal and dynamic sense of vulnerability to coronary heart disease that was grounded in notions of their genetic and inherited risk. Participants developed a sense of their vulnerability in a 2-step process. First, they consulted their family history to assess their genetic and inherited risk, and for many a certain age determined when they could expect to develop symptoms of coronary heart disease. Second, they negotiated a personal sense of vulnerability by comparing themselves with their family members. In these comparisons, they accounted for individual factors, such as sex, cholesterol levels, use of lipid-lowering medications, and lifestyle. Participants’ personal sense of vulnerability to heart disease could shift dynamically as a result of changes in situational factors, such as cardiac events in the family, illness experiences, or becoming a parent.

CONCLUSIONS Patients with a diagnosis of familial hypercholesterolemia negotiate a personal and dynamic sense of vulnerability to coronary heart disease that is grounded in their understanding of their genetic and inherited risk. Doctors should elicit patients’ understanding of their family history and their personal vulnerability to individualize clinical management.