Atherosclerosis. Supplements最新文献

Background

Familial hypercholesterolemia (FH) is frequently underdiagnosed. Prevalence of the FH in Kyrgyzstan is unknown.

Aim

to investigate the prevalence of FH amongst patients in the outpatient settings of the tertiary cardiologic center in Kyrgyzstan.

Methods

Retrospective observational study was conducted using the database of the laboratory of biochemistry and electronic database of outpatient department of the National Center of Cardiology and internal diseases. Patient with the level of total cholesterol (TC) ≥7,5 mmol/l and/or low density lipoprotein cholesterol (LDL-C) ≥ 4,9 mmol/l without signs of secondary hyperlipidemia were included in the analysis. FH was defined using Dutch Lipid Clinic Network criteria.

Results

according to the laboratory database levels of TC and LDL-C was conducted in 8281patiens and 525 of them had a high lipid levels. After exclusion of patients with secondary hyperlipidemia, high level of triglycerides and pregnant women – 91 patients were included in the analysis. Among them the definite FH was revealed in 2 (2,2%) patients, probable FH - in 6 (6,6%), and possible in 76 (83,5%), and in 7,7% there were no signs of FH.

Conclusion

Frequency of potential FH (definite and probable) in our analysis was low. To understand the real prevalence of FH in a Kyrgyz population epidemiological study is needed.

Background and aims

Inherited familial hypercholesterolemia (FH) increases cardiovascular risks, but perceived depression in FH is unknown. This study aims to explore the association between the FH and perceived depression.

Methods

This study was a hospital-based design, we started to recruit clinical diagnosis of phenotypic FH since 2014 for the Ten Countries Study in the Asia-Pacific region. We consecutively recruited 302 FH patients and other 414 comparison subjects (214 subjects with hypertriglyceridemia and 200 subjects with normal lipid controls) from the special lipid clinic of National Taiwan University Hospital, Taipei. All participants received cardiovascular health examinations and completed a self-reported questionnaire, including the Center for Epidemiologic Studies Depression Scale (CES-D) for assessment of the psychosocial depression.

Results

Clinical FH patients had a higher risk of perceived depression, with an odds ratio (95% confidence intervals) of possible depression by 1.50 (1.07–2.11) and probable depression by 1.73 (1.10–2.75) than those of the non-FH groups after adjusted relevant cardiovascular risk factors. FH patients with a family history of coronary heart disease (CHD) had higher domain-specific depression scores than those of controls. In addition, this study found that FH patients with lower educational levels also had a higher risk of depression compared with those in control groups.

Conclusions

Patients with clinical phenotype of FH are associated with subjectively perceived depression, particularly among FH patients with a family history of CHD.

Familial hypercholesterolemia is an Mendelian dominant disorder characterized by defects of the low density lipoprotein receptor (LDLR) that result in a defective removal of LDL from plasma, which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and arteries (atherosclerosis).

Diagnosis severe clinical phenotype FH with Dutch Lipid Clinic Network Criteria, encompassing history of premature ASCVD, tendon xanthomas, and a family history of hypercholesterolemia and premature ASCVD in relatives is rare in the Portuguese FH patients. There is a variability of the phenotype in FH individuals with clinical diagnosis or genetic mutation (carriers and patients) probably due to environmental factors in the last century, a Mediterranean diet, or a diet without fat food, trans fat food, no smoking, no sedentary life that can interfere with our metabolism, or are consequences of polygenic, epigenetic, acquired defects, modifiers genes and beta-globin asymptomatic carriers.

We have several concepts/mechanisms in genetics that are transversal to hereditary diseases and common in FH, such as somatic mosaicism, germinal mosaicism, variable expression and variable penetrance of mutations.

A negative blood genetic test result does not exclude FH, because the pathogenic LDLR mutation can be expressed only in the liver (a mutation in somatic tissue) or occasionally there is a vertical transmission from partner to future child by a mutation on germinal line - germinal mosaicism.

Unlike north European countries, the most FH carriers and patients had less severe phenotypes, for example with have children and young adult carriers with LDL-R mutation had normal TC and LDL-C, old women had a milder phenotype without ASCVD events, tendon xanthomas are seen in <1% patients, and most homozygous FH patients are under combined therapy.