Patients’ Understandings and Experiences of Familial Hypercholesterolemia

Abstract

Aims: To explore patients’ understanding and experiences of familial hypercholesterolemia (FH) and the significance of the hereditary aspect of the condition. Methods: A qualitative study undertaken at a large lipid clinic in the north of England, involving semistructured interviews with 31 patients with definite FH, aged 18 years or over, who had attended the clinic for at least 6 months. Results: Participants’ explanations of FH and coronary heart disease (CHD) were not focused on heredity. FH was regarded as controllable and CHD as avoidable. Many participants had apparently been unaware of a family history of CHD or hypercholesterolemia prior to their own diagnosis. It was unclear how much information was communicated among relatives. While the testing of children was generally not viewed as a problem, there was some concern about young people worrying about or resisting diagnosis. Conclusion: The study suggests that people with FH do not view genes/heredity as having a deterministic role in causing heart disease and that FH is largely seen as unproblematic in the long term. Nevertheless, particular support may be needed when diagnosing children and young adults. The communication of information in families is unpredictable and this has important implications for the organization of screening programs.

Perceived Responsibility to Initiate Family Health History Discussions among College Women Associated with Individuals Diagnosed with Heart Disease

“…This could suggest younger people don't know enough about their family health histories to fully appreciate genetic risk factors, even though they recognize their importance. This is similar to the findings of Weiner et al [28] that examined the beliefs of people with a family history of hypercholesterolemia and coronary heart disease and discovered that genetic factors were considered important, but not absolute.…”

“Awakening to” a new meaning of being at-risk for arrhythmogenic right ventricular cardiomyopathy: a grounded theory study

“…It is the awakening to the presence of the at-risk relative that sparks a shift from what was once an abstract sense of risk to what Cox and McKellin (1999) refer to as an "intersubjective awareness" of risk. This process was not easy and caused a significant amount of psychosocial distress as participants tried to decipher and assign meanings to competing ideas about risk, similar to that experienced by participants in other studies Cox 2003;Cox and McKellin 1999;d'Agincourt-Canning 2005;Etchegary 2006aEtchegary , 2006bEtchegary , 2009Etchegary , 2010Frich et al 2006;Hall et al 2007;Hallowell et al 2006;Hunt et al 2000Hunt et al , 2001Marteau et al 1995;McAllister 2002McAllister , 2003Ponder et al 1996;Walter and Emery 2005;Walter et al 2004;Weiner and Durrington 2008;Weiner 2009;van Maarle et al 2003).…”

“…Laypersons construct their ideas about risk in reference to multidimensional factors outside the realm of numerical labels, drawing on the subjective nature of risk (Binedell et al 1998;Brunger and Bassett 1998;Cameron et al 2009;Cox 2003;Cox and McKellin 1999;d'Agincourt-Canning 2005;Etchegary 2006a;McAllister 2002McAllister , 2003Norris et al 2009;Shiloh and Saxe 1989;Smith et al 2002). An individual's awareness of being "at-risk" is shaped by a multitude of factors including past experiences, commonsense practical knowledge, personal values, personal theories of inheritance, disease patterns, growing up in an at-risk family and stories of what constitutes someone at risk (Brorsson et al 1995;Cameron et al 2009;Cox and McKellin 1999;d'Agincourt-Canning 2005;Davison et al 1991Davison et al , 1992Etchegary 2006aEtchegary , 2006bEtchegary , 2010Etchegary and Perrier 2007;Finkler 2001Finkler , 2005Hall et al 2007;Hallowell et al 2006;Hunt et al 2000Hunt et al , 2001Katapodi et al 2004;Kenen et al 2003;Marteau et al 1995;McAllister 2002McAllister , 2003Senior et al 2002;Shedlosky-Shoemaker et al 2010;Sivell et al 2008;Weiner and Durrington 2008). Research has also shown that the meanings assigned to being at ris...…”

“…Not surprisingly, perception of risk for heart disease is also shaped in part by the existence of visible physical or measureable factors associated with heart disease (e.g. age, chest pain and cholesterol) (Angus et al 2005;Chan et al 2011;Emslie et al 2001;Farrimond et al 2010;Frich et al 2006;Marteau et al 1995;Weiner and Durrington 2008).…”

Translational Research for Improving the Care of Familial Hypercholesterolemia: The “Ten Countries Study” and Beyond

“…Current research suggests that attitudes and beliefs about the severity of FH predict intentions and motivation to engage in treatment, particularly adherence to lipidlowering drug regimens and self-management behaviors such as physical activity and diet 47) . However, much of the research has been conducted in relatively small samples using qualitative methods 48) . Other additional psychological factors that may be related to important outcomes related to the management of illness should be investigated in FH patients.…”