Comparative aspects of the care of familial hypercholesterolemia in the "Ten Countries Study".

BACKGROUND: There is a lack of information on the health care of familial hypercholesterolemia (FH). OBJECTIVE: The objective of this study was to compare the health care of FH in countries of the Asia-Pacific region and Southern Hemisphere. METHODS: A series of questionnaires were completed by key opinion leaders from selected specialist centers in 12 countries concerning aspects of the care of FH, including screening, diagnosis, risk assessment, treatment, teaching/training, and research; the United Kingdom (UK) was used as the international benchmark. RESULTS: The estimated percentage of patients diagnosed with the condition was low (overall <3%) in all countries, compared with ∼15% in the UK. Underdetection of FH was associated with government expenditure on health care (Ï° = 0.667, P < .05). Opportunistic and systematic screening methods, and the Dutch Lipid Clinic Network criteria were most commonly used to detect FH; genetic testing was infrequently used. Noninvasive imaging of coronary calcium and/or carotid plaques was underutilized in risk assessment. Patients with FH were generally not adequately treated, with <30% of patients achieving guideline recommended low-density lipoprotein cholesterol targets on conventional therapies. Treatment gaps included suboptimal availability and use of lipoprotein apheresis and proprotein convertase subtilsin-kexin type 9 inhibitors. A deficit of FH registries, training programs, and publications were identified in less economically developed countries. The demonstration of cost-effectiveness for cascade screening, genetic testing, and specialized treatments were significantly associated with the availability of subsidies from the health care system (Ï° = 0.571-0.800, P < .05). CONCLUSION: We identified important gaps across the continuum of care for FH, particularly in less economically developed countries. Wider implementation of primary and pediatric care, telehealth services, patient support groups, education/training programs, research activities, and health technology assessments are needed to improve the care of patients with FH in these countries.

Using the experiences of people with familial hypercholesterolaemia to help reduce the risk of cardiovascular disease: a qualitative systematic review.

AIMS: This paper presents the results of a systematic review of qualitative studies identifying the experiences and perceptions of people living with familial hypercholesterolaemia. BACKGROUND: Familial hypercholesterolaemia is a genetic condition that causes cardiovascular disease and early death. It can be easily diagnosed and treated. Diagnostic rates sit around 20% of the at-risk population in western countries. Screening the relatives of diagnosed people is the best way of identifying those at risk so that, if necessary, treatment can be offered. Presentation for screening can depend on diagnosed people informing relatives of their increased risk and advising them to volunteer for testing. We conducted this review to identify if this approach to screening contributes to low diagnostic and treatment rates. DATA SOURCES: Searches were made of 11 electronic databases and grey literature from 1990-February 2011. REVIEW METHOD: A systematic review of studies that met the review aim was undertaken. Relevant data were extracted and a narrative synthesis conducted. RESULTS: Poor health literacy, family and other social dynamics can both impede the ability and reduce the likelihood of diagnosed people approaching and adequately explaining the risk of familial hypercholesterolaemia to relatives. Relatives may misunderstand the significance of their messages or not see them as personally relevant. CONCLUSION: To ensure contact takes place and relatives are able to make informed decisions around being tested, expert clinicians must evaluate the health literacy and social contexts of diagnosed people before assigning them responsibility for contacting family and actively provide support and follow up.

Preventing cardiovascular disease: a review of the effectiveness of identifying the people with familial hypercholesterolaemia in New Zealand.

AIM: To identify the diagnostic and treatment rates for familial hypercholesterolaemia (FH) in New Zealand. METHODS: The FH data held by Canterbury Health Laboratories and the Canterbury District Health Board lipid clinic was examined to give an indication of the level of identification and treatment of FH in both Canterbury and New Zealand. RESULTS: Between 2004-08, 588 people, out of a possible 10,500 affected people, who presented with a pre-treatment cholesterol =8.0 mmol/L, lipid stigmata or a strong family history of cardiovascular disease (CVD), were tested for low density lipoprotein (LDLR) and apolipoprotein B (APOB) mutations. Mutations were identified in 76 cases (13%). 353 relatives were screened and 159 (45%) were found to have FH. This data suggests that less than 20% of the affected people in Canterbury have been diagnosed and less than 2.2% nationally. CONCLUSION: FH diagnostic services in New Zealand appear significantly underdeveloped thereby denying affected people the opportunity of early treatment to reduce the risk of premature cardiovascular events. Cascade screening is shown to be a cost effective and efficient approach to identifying people with FH.