Evaluation of the Effectiveness of Individually Tailored Lifestyle Intervention in Patients With Familial Hypercholesterolemia.

OBJECTIVES: The aim of this study was to evaluate the effect of a theoretically-based individually tailored lifestyle intervention on healthy lifestyle changes and improvement in disease management in patients with familial hypercholesterolemia (FH). METHODS: In this randomized controlled clinical trial, 120 patients with FH were randomly assigned (1:1) to receive education and counseling based upon the Transtheoretical Model of Health Behavioral Change (n = 60) or conventional clinical education (n = 60). All patients were evaluated for healthy lifestyle changes, adherence to therapy, lipid levels, blood pressure, body mass index, and waist measurement at baseline and at 12th and 24th weeks' visits. RESULTS: Motivational interviews resulted in a significant improvement in healthy lifestyle changes and treatment adherence in the intervention group. In addition, there were significant decreases in body mass index (-7.49%), low-density lipoprotein cholesterol (-37.14%), and blood pressure (13.3%) in the intervention group. CONCLUSIONS: Our results showed that an individually tailored lifestyle intervention was effective in facilitating healthy lifestyle changes and improvement in treatment adherence and in decreasing cardiovascular risk factors including cholesterol levels in patients with FH.

Lipoprotein apheresis and PCSK9 inhibitors for severe familial hypercholesterolaemia: Experience from Australia and New Zealand.

INTRODUCTION: Severe familial hypercholesterolaemia (FH) causes premature disability and death due to atherosclerotic cardiovascular disease and is refractory to standard lipid-lowering therapies. Lipoprotein apheresis (LA) has long been a standard of care for patients with severe FH, but is invasive, expensive and time-consuming for patients and their caregivers. Newer drug therapies, including the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors, may reduce the need for LA. MATERIALS AND METHODS: We audited the records of 16 patients (eight homozygous, eight heterozygous) treated with LA in Australia and New Zealand, 14 of whom subsequently commenced PCSK9 inhibitor therapy. LA was performed by cascade filtration in all centres. RESULTS: LDL-cholesterol was acutely lowered by 69 ± 7% in patients with homozygous FH and by 72 ± 9% in those with heterozygous FH, representing time-averaged reductions of 36 ± 12% and 34 ± 5%, respectively. LA was well-tolerated, and patients reported comparable quality of life to population and disease-related norms. After commencement of PCSK9 inhibitors, four of seven patients with homozygous FH had meaningful biochemical responses, with a reduction in the frequency of LA permitted in one patient and complete cessation in another. Four of seven patients with heterozygous FH were able to be managed without LA after commencing PCSK9 inhibitors. CONCLUSION: While PCSK9 inhibitors have reduced the need for LA, some patients with severe FH continue to require LA, and will require it for the foreseeable future. However, emerging therapies, including angiopoetin-like 3 inhibitors, may further reduce the need for LA.

Barriers, facilitators, and solutions to familial hypercholesterolemia treatment.

BACKGROUND: Familial hypercholesterolemia (FH) is an inherited lipid disorder that confers high risk for premature cardiovascular disease but remains undertreated. Causes are multifactorial and multilevel, ranging from underprescribing (at the clinician-level) to medication nonadherence (at the patient-level). We evaluated patient and clinician stakeholder barriers and facilitators for treatment of FH to explore possible solutions to the problem. METHODS AND RESULTS: Semi-structured interviews and focus groups guided by the Practical, Robust, Implementation and Sustainability Model (PRISM), were conducted with 33 patients and 17 clinician stakeholders across three healthcare systems. A total of14 patients and 9 clinician stakeholders participated in on-site focus groups and the remainder were individual interviews. Transcripts were coded using an iterative process to create a static codebook. We characterized patient and clinician stakeholder barriers into three categories: medical care-, medication-, and life-related. Feasibility of brainstormed solutions varied and was not always representative of the needs of all stakeholders. Patients suggested a need for childhood screening for FH and doctors being persistent about the importance of treating FH, creation of a patient peer group, data transparency, advocacy, and policy changes that would enable patients to receive better treatment. Clinician stakeholders suggested the need for clinical champions. Both groups of stakeholders discussed the need for education about FH. CONCLUSIONS: Proposed solutions to improve treatment of FH proffered by participants in this study included resources for both patients and clinician stakeholders that clarify cardiovascular disease risks from FH, develop programs to screen for and identify FH at younger ages, and foster open conversations between patients and clinicians about treatment.

Mental status and physical activity in patients with homozygous familial hypercholesterolemia: A subgroup analysis of a nationwide survey (A-HIT1 registry).

BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, life-threatening disease due to high serum low-density lipoprotein (LDL) cholesterol levels. LDL cholesterol-lowering interventions are fundamental for patients with HoFH. OBJECTIVE: It was aimed to investigate the association between the mental status of patients with HoFH and healthy lifestyle behaviors. METHODS: This subgroup analysis of the A-HIT1 population included the data of patients aged ≥18 years with a clinical diagnosis of HoFH undergoing therapeutic LDL apheresis. Besides the demographic and clinical characteristics of patients, healthy lifestyle behaviors were assessed, and psychiatric symptoms were screened by Symptom Check List (SCL-90-R). RESULTS: The highest percentage for pathology was observed in dimensions of obsessive-compulsive, somatization, interpersonal sensitivity, and depression in SCL-90-R. Patients with any cardiovascular condition have more psychiatric symptoms in different fields of SCL-90-R. The outcomes of the correlative analysis indicated that lower the age of the first coronary event better the psychiatric status, probably denoting a better adaptation to disease and its treatment. Among 68 patients, 36 patients were not exercising regularly. Patients with regular physical activity had significantly lower scores in most dimensions of SCL-90-R and there was no association between regular physical activity and other investigated variables. The strongest predictor of regular exercising was global severity index of SCL-90-R. CONCLUSION: In the HoFH population, there was a high prevalence of mental disturbances. Better psychiatric status was associated with regular exercising. Therefore, assessing the mental status of patients with HoFH and referring patients in need, to a psychiatrist, may improve the outcome of patients.

Assessment of medical intern's knowledge, awareness and practice of familial hypercholesterolemia at academic institutes in Jeddah, Saudi Arabia.

BACKGROUND: Familial Hypercholesterolemia (FH) is a serious under-diagnosed disease characterized by raised low-density lipoprotein cholesterol (LDL-C) and premature coronary artery diseases (CAD). The scarcity of FH reported patients in Saudi Arabia indicates lack of FH awareness among physicians. OBJECTIVE: The goal of this research was to assess knowledge, awareness, and practice (KAP) about FH disorder among Saudi medical interns and to identify areas that need educational attention. METHODS: This cross-sectional study involved 170 Saudi medical interns (83 males and 87 females) from academic institutes in Jeddah, Saudi Arabia. The interns were asked to fill an online FH-KAP questionnaire. Total score for each separate domain measured by adding correct answers. RESULTS: Although, knowledge of FH definition (76.5%) and classical lipid profile (52.4%) were reasonable; knowledge on inheritance (43.5%), prevalence (12.4%) and CAD risks (7.1%) were poor. Knowledge score was significantly higher in female than male (7.5 ± 3 vs. 5.3 ± 2.6, P < 0.001). Regarding awareness, 54.1% were familiar with FH disorder, 50.6% with the presence of lipid clinic but only 16.5% were acquainted with guidelines. Furthermore, in the practice domain 82.9% selected statin as first line treatment and 62.9% chose routinely checking the rest of the family, while 15.3% chose ages 13-18 years to screen for hypercholesterolemia in patients with a positive family history of premature CAD. CONCLUSION: Substantial defects in FH-KAP among Saudi medical interns were found, emphasizing the importance of professional training. Extensive and constant medical education programs as early as an internship are required to close the gap in CAD prevention.

Behavioural cardiovascular risk factors and prevalence of diabetes in subjects with familial hypercholesterolaemia.

A low prevalence of type 2 diabetes mellitus has been reported in familial hypercholesterolaemia. Whether a healthier lifestyle could explain it has not been explored. This cross-sectional study determines the prevalence of lifestyle-related cardiovascular risk factors in heterozygous familial hypercholesterolaemia (HeFH) from the Dyslipidaemia Registry of the Spanish Atherosclerosis Society and in the ENRICA study, a representative sample of the adult Spanish general population, weighted to match the age and sex distribution of the HeFH sample. A total of 2185 HeFH patients and 11,856 individuals from ENRICA were included. HeFH had lower body mass index and fewer of them were smokers than in the reference population. A model adjusted for age, sex and body mass index showed that HeFH more frequently had cardiovascular disease (odds ratio (OR) 23.98; 95% confidence interval (CI) 18.40-31.23) and hypertension (OR 1.20; 95% CI 1.07-1.35), and took anti-hypertensive medication (OR 1.36; 95% CI 1.18-1.56) and anti-diabetic medication (OR 1.25; 95% CI 1.00-1.56), but less frequently were smokers (OR 0.79; 95% CI 0.71-0.89). In a HeFH subsample (n = 513) with complete blood glucose information, those patients without cardiovascular disease showed lower prevalence of smoking and type 2 diabetes mellitus, lower body mass index and glucose, and higher diastolic blood pressure than the Spanish population. The differences in type 2 diabetes mellitus were justified mostly by the difference in body mass index. Body mass index adjustment also showed higher prevalence of hypertension and use of anti-hypertensive drugs in HeFH. In summary, HeFH patients had lower body mass index, which may contribute to explaining the lower prevalence of diabetes, and lower current smoking but higher hypertension.

Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.

PURPOSE: Familial hypercholesterolemia (FH) is a common Mendelian disorder characterized by elevated LDL cholesterol levels, which if untreated can cause premature heart disease. Less than 10% of cases in the United States are diagnosed. This study investigates decision-making factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH. METHODS: Fifty-three clinically diagnosed adults with FH and no genetic testing were recruited through the FH Foundation and lipid clinics. Participants completed a survey containing items capturing various reasons to engage in genetic testing. RESULTS: Exploratory factor analysis of survey items identified three factors: (a) aversion to FH genetic information, (b) curiosity regarding medical/family history, (c) and psychological reassurance. Psychological reassurance was, in turn, the only significant predictor of genetic testing intentions. The positive effect of reassurance on genetic testing intention was moderated by aversion such that individuals who were low in reassurance were more inclined to decline testing if aversion was high. CONCLUSION: Findings suggest that clinically diagnosed patients' decisions about FH genetic testing are driven principally by psychological reassurance, particularly when low in aversion to FH genetic information.

Efficiency and problems of statin therapy in patients with heterozygous familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is associated with a very high risk of cardiovascular complications and the need for an early aggressive lipid-lowering therapy. The achievement of lipid target levels is often an extremely difficult task in these patients. AIMS: to analyze sex and age structure of ischemic heart disease (IHD) in patients with a definite, possible and probable FH. to assess the degree of achievement of low density lipoprotein cholesterol (LDL-C) target levels in FH patients on statin therapy and complications that occur during therapy; to analyze the adherence of FH patients to statin therapy and reveal the factors which have an influence on it. MATERIALS AND METHODS: The analysis of IHD clinical characteristics was performed in 253 FH patients from Karelian register, mean age 52.5 years (confidence interval, CI 22.0; 78.0). Using Dutch Lipid Clinic Network Criteria (DLCN), we established the diagnosis of FH as "definite" if the total number of points was more than eight, "probable" - if the number of points was 6-8, "possible" if the number of points was 3-5. The diagnosis was considered to be excluded if the score was less than three. A definite FH was diagnosed in 96 patients. For the evaluation of target LDL-C levels achievement on statin therapy we analyzed data from 191 FH patients (75 males). For the evaluation of adherence to statin therapy Morisky-Green questionnaire was used in 93 definite FH patients. RESULTS: In the group with a definite FH the incidence of IHD in the age range from 39 to 60 years was higher in women than in men (50% and 39.4%, p > 0.05), in patients older than 60 years IHD was observed in 66.7% of women and 50% of men (p > 0.05). In general, in the group with a definite FH, the frequency of IHD was more than three times higher in the age group over 40 years compared with patients under 40 years. 57% of patients with a definite FH were adherent to lipid-lowering therapy, 16% had partial adherence and no adherence to therapy was documented in 27% of patients. The achievement of LDL-C target levels was 19.2%: 22.6% in definite FH group and 12.5% in possible FH. Smoking and gender were not associated with adherence to statin therapy. Associated factors with increased adherence to statin therapy were age (p = 0.000003), arterial hypertension (OR = 1.90 (1.02; to 3.55), p = 0.044), the history of IHD (OR = 2.99 (1.50; of 5.97) p = 0.002), myocardial infarction (OR = 5.26 (2.03; 13.60), p = 0.0006), myocardial revascularization (OR = 20.3 (2.64; 156.11), p = 0.004) and the fact of target LDL-cholesterol levels achievement (OR = 19.93 (7.03; 56.50), p < 0.0001). The main reason for the non-acceptance of statin therapy for FH patients was the fear of side effects in 87%. The main reasons for stopping current statin intake were myalgia in 12%, an increase in transaminases in 35%, skin rashes in 12%, and high cost in 6%. 29% of patients had made the decision to stop therapy themselves. CONCLUSIONS: the frequency of IHD in FH patients was more than three times higher in the age group over 40 years and was higher in women. In clinical practice statin therapy in FH patients rarely reaches target lipid values, one of the reasons was low adherence to statin therapy.

Predicting intention to participate in self-management behaviors in patients with Familial Hypercholesterolemia: A cross-national study.

RATIONALE: Familial Hypercholesterolemia (FH) is a genetic condition that predisposes patients to substantially increased risk of early-onset atherosclerotic cardiovascular disease. FH risks can be minimized through regular participation in three self-management. BEHAVIORS: physical activity, healthy eating, and taking cholesterol lowering medication. OBJECTIVE: The present study tested the effectiveness of an integrated social cognition model in predicting intention to participate in the self-management behaviors in FH patients from seven countries. METHOD: Consecutive patients in FH clinics from Australia, Hong Kong, Brazil, Malaysia, Taiwan, China, and UK (total N = 726) completed measures of social cognitive beliefs about illness from the common sense model of self-regulation, beliefs about behaviors from the theory of planned behavior, and past behavior for the three self-management behaviors. RESULTS: Structural equation models indicated that beliefs about behaviors from the theory of planned behavior, namely, attitudes, subjective norms, and perceived behavioral control, were consistent predictors of intention across samples and behaviors. By comparison, effects of beliefs about illness from the common sense model were smaller and trivial in size. Beliefs partially mediated past behavior effects on intention, although indirect effects of past behavior on intention were larger for physical activity relative to taking medication and healthy eating. Model constructs did not fully account for past behavior effects on intentions. Variability in the strength of the beliefs about behaviors was observed across samples and behaviors. CONCLUSION: Current findings outline the importance of beliefs about behaviors as predictors of FH self-management behaviors. Variability in the relative contribution of the beliefs across samples and behaviors highlights the imperative of identifying sample- and behavior-specific correlates of FH self-management behaviors.

Effect of quantitative and qualitative diet prescription on children behavior after diagnosis of heterozygous familial hypercholesterolemia.

BACKGROUND: Diet and healthy modifications in lifestyle represent the first therapeutic approach for early intervention in hypercholesterolemia. We aimed to evaluate the impact of a qualitative dietetic program rather than a quantitative one on metabolic parameters and anxiety level of children affected by heterozygous familial hypercholesterolemia [heFH] and their mothers. METHODS: In a sample of 42 heFH normal weight children (11.4 ±â€¯2.9 years old), we investigated the factors which were associated with children perceived quality of life and with their mothers' anxiety levels after qualitative dietary changes rather than after quantitative ones. RESULTS: The administered diets had similar metabolic effects. However, higher Child Behavior Checklist (Behavior Problems subscale) [CBCL] scores were significantly associated with the permanence in quantitative diet, as well as children's higher age, higher Children's Depression Inventory 2 [CDI2] and State-Trait Anxiety Inventory for Children [STAI-CH] score, and with mothers' anxiety at the baseline. CONCLUSION: In heFH children, an intervention in the diet to improve food choice seems to be associated with a more healthy children behavior rather than a quantitative diet.

Adults with familial hypercholesterolaemia have healthier dietary and lifestyle habits compared with their non-affected relatives: the SAFEHEART study.

OBJECTIVE: Healthy lifestyle habits are the cornerstone in the management of familial hypercholesterolaemia (FH). Nevertheless, dietary studies on FH-affected populations are scarce. The present study analyses dietary habits, adherence to a Mediterranean diet pattern and physical activity in an adult population with FH and compares them with their non-affected relatives. DESIGN: Cross-sectional study. SETTING: Data came from SAFEHEART, a nationwide study in Spain.ParticipantsIndividuals (n 3714) aged ≥18 years with a genetic diagnosis of FH (n2736) and their non-affected relatives (n 978). Food consumption was evaluated using a validated FFQ. RESULTS: Total energy intake was lower in FH patients v. non-affected relatives (P<0·005). Percentage of energy from fats was also lower in the FH population (35 % in men, 36 % in women) v. those non-affected (38 % in both sexes, P<0·005), due to the lower consumption of saturated fats (12·1 % in FH patients, 13·2 % in non-affected, P<0·005). Consumption of sugars was lower in FH patients v. non-affected relatives (P<0·05). Consumption of vegetables, fish and skimmed milk was higher in the FH population (P<0·005). Patients with FH showed greater adherence to a Mediterranean diet pattern v. non-affected relatives (P<0·005). Active smoking was lower and moderate physical activity was higher in people with FH, especially women (P<0·005). CONCLUSIONS: Adult patients with FH report healthier lifestyles than their non-affected family members. They eat a healthier diet, perform more physical activity and smoke less. However, this patient group's consumption of saturated fats and sugars still exceeds guidelines.

Effects of medication, treatment, and behavioral beliefs on intentions to take medication in patients with familial hypercholesterolemia.

BACKGROUND AND AIMS: Although familial hypercholesterolemia (FH) can be effectively managed using cholesterol-lowering medication, patients often fall short of complete treatment adherence. Identifying the psychological factors associated with self-regulation of FH medication is important to inform interventions to maximize adherence. The aim of the present study was to test an integrated psychological model in predicting FH patients' intentions to take medication. METHODS: FH patients attending clinics in seven countries were invited to participate in a cross-sectional survey study. Consenting patients (N = 551) completed self-report measures of generalized beliefs about medication overuse and harms, beliefs in treatment effectiveness, specific beliefs about taking medication (attitudes, subjective norms, perceived behavioral control), and intentions to take medication. Participants also completed measures of demographic variables (age, gender, education level, income, cardiovascular disease status). Data were analysed using path analysis controlling for country and demographic variables. RESULTS: Attitudes (ß = .331, p<0.001), subjective norms (ß = .121, p=0.009), and beliefs about medication overuse (ß = -.160, p<0.001) were significant predictors of intentions to take medication. Treatment beliefs predicted intentions indirectly (ß = .088, p<0.001) through attitudes and subjective norms. There was also an indirect effect of beliefs about medication overuse on intentions (ß = -.045, p=0.056), but the effect was small compared with the direct effect. CONCLUSIONS: The findings indicate the importance among FH patients of specific beliefs about taking medication and generalized beliefs about medication overuse and treatment in predicting medication intentions. When managing patients, clinicians should emphasize the efficacy of taking cholesterol-lowering drugs and the importance of treatment outcomes, and allay concerns about medication overuse.

Anxiety, depression, and health-related quality of life in heterozygous familial hypercholesterolemia: A systematic review and meta-analysis.

BACKGROUND: Heterozygous familial hypercholesterolemia (FH) is a common genetic disease predisposing affected individuals to a high risk of cardiovascular disease. Yet, considerable uncertainty exists regarding its impact on psychosocial wellbeing. OBJECTIVES: We performed a systematic review and meta-analysis of the association between FH and symptoms of anxiety and depression, and health-related quality of life (HRQL). METHODS: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, PsycINFO, and PubMed for peer-reviewed literature published in English between January 1, 1990 and January 1, 2018. Quantitative and qualitative studies were eligible if they included patients with confirmed FH and evaluated its association with symptoms of anxiety or depression, or HRQL. We performed a narrative synthesis of studies, including thematic analysis of qualitative studies, and where data permitted, random-effects meta-analysis reporting standardized mean differences (SMD) and 95% confidence intervals. RESULTS: We found 10 eligible studies measuring HRQL, depression and anxiety. Random-effects meta-analysis of 4 (n = 4293) and 5 studies (n = 5098), respectively, showed that patients with FH had slightly lower symptoms of anxiety (SMD: -0.29 [95% CI: -0.53, -0.04]) and mental HRQL (SMD: -0.10 [95% -0.20, -0.00]) relative to general population controls. No significant differences existed in depressive symptoms (SMD: 0.04 [95% CI: -0.12, 0.19]) or physical HRQL scores (SMD: 0.02 [95% CI: -0.09, 0.12]). CONCLUSIONS: Our systematic review suggests that patients with FH may report small but measurable differences in anxiety symptoms and mental HRQL.

Health literacy in familial hypercholesterolemia: A cross-national study.

Background High rates of inadequate health literacy are associated with maladaptive health outcomes in chronic disease including increased mortality and morbidity rates, poor treatment adherence and poor health. Adequate health literacy may be an important factor in the effective treatment and management of familial hypercholesterolemia, and may also be implicated in genetic screening for familial hypercholesterolemia among index cases. The present study examined the prevalence and predictors of health literacy in familial hypercholesterolemia patients attending clinics in seven countries. Design Cross-sectional survey. Methods Consecutive FH patients attending clinics in Australia, Brazil, China, Hong Kong, Malaysia, Taiwan and the UK completed measures of demographic variables (age, gender, household income and highest education level) and a brief three-item health literacy scale. Results Rates of inadequate health literacy were lowest in the UK (7.0%), Australia (10.0%), Hong Kong (15.7%) and Taiwan (18.0%) samples, with higher rates in the Brazil (22.0%), Malaysia (25.0%) and China (37.0%) samples. Income was an independent predictor of health literacy levels, accounting for effects of age. Health literacy was also independently related to China national group membership. Conclusions Findings indicate non-trivial levels of inadequate health literacy in samples of familial hypercholesterolemia patients. Consistent with previous research in chronic illness, inadequate health literacy is related to income as an index of health disparities. Chinese familial hypercholesterolemia patients are more likely to have high rates of inadequate health literacy independent of income. Current findings highlight the imperative of education interventions targeting familial hypercholesterolemia patients with inadequate health literacy.

Treatment Preferences in Germany Differ Among Apheresis Patients with Severe Hypercholesterolemia.

BACKGROUND: Severe hypercholesterolemia is a major risk factor of death in patients with coronary heart disease. New adjunctive drug therapies (proprotein convertase subtilisin/kexin type 9 [PCSK9] inhibitors) have gained approval in Europe and the USA. OBJECTIVE: In this empirical study, we documented preferences regarding adjuvant drug therapy in apheresis-treated patients with severe familial hypercholesterolemia. METHODS: We conducted a systematic literature search to identify patient-relevant outcomes in patients with severe hypercholesterolemia currently undergoing apheresis. Data were used to generate a semi-structured qualitative interview that enabled seven patient-relevant characteristics with three levels each to be identified. For the discrete choice experiment, an experimental design (7 × 3) was generated using NGene Software that consisted of 96 choices divided into eight blocks. The survey was conducted between November 2015 and April 2016 using computer-assisted personal interviews. RESULTS: The survey was completed by 348 patients (64.9% male). The random parameter logit estimation showed predominance for the attribute 'reduction of LDL-C (low-density lipoprotein cholesterol) level'. 'Risk of myopathy' and 'frequency of apheresis' dominated next. Within the random parameter logit estimation, all coefficients were significant (P ≤ 0.01). The latent class analysis identified three patient groups. The first group (126 patients) found 'reduction of LDL-C level in blood' to be most important. This group focused solely on this treatment outcome independently of apheresis frequency or additional injections. The second group (106 patients) focused on three attributes: 'frequency of apheresis', 'risk of myopathy', and 'reduction of LDL-C level in blood'. Respondents clearly considered a high frequency of apheresis to have a negative impact. The third group (116 patients) demonstrated the highest preference for apheresis. These patients have adjusted to apheresis for > 10 years. CONCLUSION: Regarding patient preference, clinical efficacy seems to dominate. Hence, 'reduction of LDC-C in blood' was ranked highest above patient-relevant modes of administration and adverse effects. In the patient groups identified, reduction of apheresis was important for only a subsegment (30%) of patients. Another 30% wanted effective LDL-C reduction by whatever means necessary. Most strikingly, another 30% preferred higher frequencies of apheresis.

Knowns and unknowns in the care of pediatric familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is a common genetic disorder that causes elevated LDL cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from the age of 8 to 10 years, to reduce the burden of hypercholesterolemia. Worldwide, the majority of children with FH remain undiagnosed. Recent evidence suggests that the frequency of FH is at least 1 in 250 and this constitutes a public health issue. We review and identify the knowns and unknowns concerning the detection and management of pediatric FH that impact on the developing model of care for this condition.

Transitioning from pediatric to adult health care with familial hypercholesterolemia: Listening to young adult and parent voices.

BACKGROUND: Young adults with familial hypercholesterolemia (FH) are at a critical period for establishing behaviors to promote future cardiovascular health. OBJECTIVE: To examine challenges transitioning to adult care for young adults with FH and parents of FH-affected young adults in the context of 2 developmental tasks, transitioning from childhood to early adulthood and assuming responsibility for self-management of a chronic disorder. METHODS: Semistructured, qualitative interviews were conducted with 12 young adults with FH and 12 parents of affected young adults from a pediatric subspecialty preventive cardiology program in a northeastern academic medical center. Analyses were conducted using a modified grounded theory framework. RESULTS: Respondents identified 5 challenges: (1) recognizing oneself as a decision maker, (2) navigating emerging independence, (3) prioritizing treatment for a chronic disorder with limited signs and symptoms, (4) managing social implications of FH, and (5) finding credible resources for guidance. Both young adults and parents proposed similar recommendations for addressing these challenges, including the need for family and peer involvement to establish and maintain diet and exercise routines and to provide medication reminders. Systems-level recommendations included early engagement of adolescents in shared decision-making with health care team; providing credible, educational resources regarding FH; and using blood tests to track treatment efficacy. CONCLUSION: Young adults with FH transitioning to adult care may benefit from explicit interventions to address challenges to establishing healthy lifestyle behaviors and medication adherence as they move toward being responsible for their medical care. Further research should explore the efficacy of recommended interventions.

Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets.

INTRODUCTION: Familial hypercholesterolaemia (FH) is the most common monogenic disorder associated with premature cardiovascular disease. If untreated, life expectancy in heterozygous FH patients is shortened by 20-30 years compared with the general population. Nevertheless, treatment goals are only met in approximately 50% of patients. This comparative study examined the quality of life (QoL) impact of FH in patients who had and had not reached the target of treatment. METHODS: Two qualitative focus group interviews were carried out with a total of ten FH patients. A semi-structured interview guide included questions identified in a preceding literature study. The data were analysed using a medical anthropological approach. RESULTS: While having FH did not have much impact on well-treated patients' QoL, patients who had not reached the treatment target had markedly more concerns. They had experienced severe side-effects and worried about their own and their relatives' health. They were concerned about the long-term impact of not being effectively treated including the risk that coronary heart disease could cause their premature death or disability and inability to care for their children, in particular. The women had issues with stigma and self-efficacy. CONCLUSIONS: The QoL impact of FH is related to treatment efficacy. These findings need to be addressed in the management of FH patients. Particular attention should be paid to those who are not presently reaching the target of treatment. FUNDING: The study was funded by a research grant from Amgen. TRIAL REGISTRATION: not relevant.