Promoting Holistic Care in Familial Hypercholesterolemia: The Case for Family-Centered Science : Journal of Cardiovascular Nursing

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Promoting Holistic Care in Familial Hypercholesterolemia

The Case for Family-Centered Science

Ryan, Heather H. PhD, RN; Martyn-Nemeth, Pamela PhD, RN; Hayman, Laura L. PhD, MSN

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The Journal of Cardiovascular Nursing ():10.1097/JCN.0000000000001004, May 19, 2023. | DOI: 10.1097/JCN.0000000000001004
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Heterozygous familial hypercholesterolemia (FH) has received increased attention over the past 10 years attributable to the successes of patient advocacy and increasingly effective pharmacological treatment options tailored to specific genotypic profiles. Familial hypercholesterolemia is estimated to affect approximately 1:250 individuals in the United States, and it has been suggested that FH may be the most common autosomal dominant, predominantly monogenic disorder affecting humanity.1,2 Heterozygous individuals typically present with the phenotype of significantly elevated low-density lipoprotein cholesterol (>190 mg/dL) in the context of strong family history of hypercholesterolemia and, in some cases, frequent early atherosclerotic events.3 Those left untreated are more likely than unaffected counterparts to have atherosclerotic events and more likely to experience mortality from those events, thus adding to the high burden of excess cardiovascular disease (CVD) worldwide.4

Although patient advocacy groups have successfully increased awareness of FH through the medium of patient and family narrative, the body of scientific literature on the lived experience of those with FH is relatively sparse in comparison with that focused on phenotypic and genotypic identification, treatment, and long-term progression. It has been documented that persons affected by heterozygous FH express an array of perspectives relative to its significance in their lives. Some express an unconcerned acceptance of their diagnosis citing ease of pharmacotherapy, whereas others embrace the vigilance necessary to engage in healthy lifestyle behaviors; yet, others minimize the diagnosis secondary to a sense of feeling “normal.”5,6 Remarkably consistent across studies is the effect that bearing witness to CVD in beloved family members has on the illness perceptions of those with FH, particularly after receiving the diagnosis, and the importance of the wider family context in shaping disease perceptions.6–8

In 2011, the National Heart, Lung, and Blood Institute made the controversial recommendation for universal cholesterol screening of children ages 9–11 years, with increased identification of FH in youth among the rationales.9 Studies have shown vascular remodeling can be detected in affected children as young as 10 years old, making early life a critical period for early interventions intended to postpone and prevent progression.10 With the goal of early identification thus formalized in a major statement on maintaining childhood cardiovascular health, the implications for child-rearing families were briefly but importantly acknowledged as a gap in the literature necessitating further investigation in the Agenda for Familial Hypercholesterolemia outlined in 2015.11 Yet, much remains to be learned regarding these impacts of FH diagnosis and management on child-rearing families, and vice versa.

The literature theorizing on and demonstrating the impact of family-level factors relative to childhood disease management, health behaviors, and outcomes is extensive. For example, nurse scientists have been at the forefront of theorizing the role of family in chronic disease management in the offspring, finding that the interactions between each family member's perspective and approach to management underpin the effectiveness of the overall management style.12,13 Specific parenting practices relative to establishing a heart-healthy household have been found both beneficial and ripe for intervention. For instance, family food environment and food-related parenting behaviors have been shown to relate directly to child self-regulation when eating, which is itself associated with weight gain.14 In addition, a recent large meta-analysis (36 studies, n = 28 322 youth and 7385 parents) of randomized controlled trials of parent-targeted interventions on the “Big 6” lifestyle risk behaviors in their offspring found that interventions such as lifestyle education, parental social support, and assistance with goal setting and feedback increased the odds of adequate moderate-to-vigorous physical activity by 82% (P = .007), and decreased standardized mean screen time (Standardized Mean Difference, −0.39; P = .0009) and discretionary food intake (Standardized Mean Difference, −0.18; P = .002) among treated children compared with controls.15 More generally, it has been hypothesized that family stress may directly result in increased systemic inflammation, potentially compounding that imparted separately by disease states such as FH.16 As a chronic yet mostly symptomless condition before incident CVD, management of FH in childhood features contrasting challenges to those faced by families needing to prevent acuity in real time. Affected families face the same daily pressures and constraints as unaffected families, making health-conscious decisions no easier. Thus, continued study into the utility of these branches of family illness management in families with FH could be critical to improving the cardiovascular and overall health of affected children with impacts on long-term prevention.

The current state of the science on child-rearing in the context of FH paints a picture of parents whose perspectives on management and treatment have been shaped by their or their co-parent's salient family history, and experiences with diagnosis and treatment—both their own—and iteratively through managing their children.8 Parents featured in the literature offer 2 contrasting visions relative to how to protect their children with FH: (a) those for whom protection means action, focusing on normalization and habituation of behaviors protective of cardiovascular health; and (b) those for whom protection means inaction, sheltering children from perceived burdens of dietary restriction, structured exercise, and daily medication, to preserve a “normal” childhood.7,17 Children and young adults featured in the literature generally recognize their risk for CVD but do not find treatment to be an inconvenience if introduced early.8 Indeed, youth perceive themselves as even healthier than their peers due to their disease knowledge, although worry regarding being perceived as “different” may arise consistent with developmental transitions as children age.18,19 Children are cognizant of their affected parent's attitudes toward management and may integrate these into their own beliefs and practices.19 Conflict can arise when approaches to management differ or parents are perceived as overbearing.19,20 These findings suggest a unique experience for families where health promotion and disease management overlap, with potentially universal implications for family-based interventions to prevent CVD across the life course and starting in childhood.

Nursing practice is committed to integrating the holistic human experience into disease management, and it appears from the current science that nothing could be more fundamental to FH than its connectedness to the family system. Nurses across practice levels, specialties, and healthcare settings have always kept the “family” aspect of care in focus and are well positioned to unlock its potential in preserving cardiovascular health across the life course with FH. Nurses can continue to improve the lives of families with FH by keeping informed on its implications and up-to-date on treatments, encourage clients with hypercholesterolemia to speak with their children's pediatricians about their family history of CVD and the appropriateness of cholesterol screening, and advocate for the inclusion of family members when providing FH-related counseling. There is much yet to be explored, including the need for additional representation by families with diverse sociocultural backgrounds or nonnuclear family structures. Nurse scientists are uniquely positioned to propel this area of research forward. Additional insights into family-level factors that could compound epigenetic risk or optimize adherence may be the foundation for the development of innovative care models based in family-centeredness. Future research may justify a more holistic plan for wellness when risk for heart disease is present in child-rearing families and emphasize the importance of thoughtful, evidence-based policy enactment and opportunities to raise the floor for wellness universally.


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