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Acute myocardial infarction in an adolescent

Muthupalaniappen L, Menon RK, Das S

Saudi Med J, 2012 Feb;33(2):197-200.
PMID: 22327763

Myocardial infarction (MI) is known to be common in adults. Interestingly, we report a case of a 15-year-old boy who presented with typical chest pain secondary to myocardial infarct attributable to a combination of familial hyperlipidemia and possible episode of Kawasaki disease in the past. The patient failed treatment and follow-up care, and died 2 years later. Although rare, this case demonstrates that MI should be considered as a diagnosis in adolescents presenting with typical chest pain as early detection, and management is vital for survival.

Matched MeSH terms: Hyperlipoproteinemia Type II/complications*
Fulltext Measurement of intima-media thickness of common carotid arteries using ultrasound in patients with familial and non-familial hypercholesterolaemia and correlation of intima-media thickness to obesity

Nafikudin M, Nawawi H, Muid S, Annuar R, Yusoff K, Khalid BAK

Med J Malaysia, 2003 Dec;58(5):647-52.
PMID: 15190648

Ultrasonographic measurements of the intima-media thickness (IMT) of common carotid arteries (CCA) were taken in 50 patients with familial hypercholesterolaemia (FH) and 57 patients with non-familial hypercholesterolemia (NFH). The lipid profile, body mass index (BMI) and waist-hip ratio (WHR) of each patient were recorded. In FH patients, the IMT was significantly higher in overweight and elevated WHR subgroups compared to the normal with significant correlations between BMI and WHR to the IMT. In NFH patients, the IMT was significantly higher in the elevated WHR compared to the normal subgroup but the correlations between either BMI or WHR to IMT were insignificant. These suggest that the environmentally modified anthropometric indices may have an effect on atherosclerosis in genetically determined hypercholesterolaemia in FH patients.

Matched MeSH terms: Hyperlipoproteinemia Type II/complications
Bilateral middle ear cholesterol granuloma in familial hypercholesterolemia

Masaany M, Siti HS, Nurliza I, Mazita A

Otolaryngol Head Neck Surg, 2008 Jun;138(6):803-4.
PMID: 18503863 DOI: 10.1016/j.otohns.2008.02.020

Cholesterol granuloma (CG) is a histologic description of foreign body giant cell formation toward cholesterol crystals. The majority of temporal bone CG is unilateral and most common in the petrous apex. Middle ear CG is usually the result of underlying ear diseases. Primary middle ear CG is very rare. Most reported CG has not been associated with familial hypercholesterolemia (FH). FH, an autosomal dominant disorder, manifests as high levels of serum cholesterol and low density lipoprotein (LDL) cholesterol. We report a rare case of FH and bilateral aggressive primary middle ear CG. This publication has been approved by the IRB, Hospital Alor Setar.

Matched MeSH terms: Hyperlipoproteinemia Type II/complications*
Predicting intention to participate in self-management behaviors in patients with Familial Hypercholesterolemia: A cross-national study

Hagger MS, Hamilton K, Hardcastle SJ, Hu M, Kwok S, Lin J, et al.

Soc Sci Med, 2019 12;242:112591.
PMID: 31630009 DOI: 10.1016/j.socscimed.2019.112591

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.

Matched MeSH terms: Hyperlipoproteinemia Type II/complications
Fulltext Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia

Al-Khateeb A, Zahri MK, Mohamed MS, Sasongko TH, Ibrahim S, Yusof Z, et al.

BMC Med Genet, 2011;12:40.
PMID: 21418584 DOI: 10.1186/1471-2350-12-40

Familial hypercholesterolemia is a genetic disorder mainly caused by defects in the low-density lipoprotein receptor gene. Few and limited analyses of familial hypercholesterolemia have been performed in Malaysia, and the underlying mutations therefore remain largely unknown.We studied a group of 154 unrelated FH patients from a northern area of Malaysia (Kelantan). The promoter region and exons 2-15 of the LDLR gene were screened by denaturing high-performance liquid chromatography to detect short deletions and nucleotide substitutions, and by multiplex ligation-dependent probe amplification to detect large rearrangements.

Matched MeSH terms: Hyperlipoproteinemia Type II/complications
Fulltext Enhanced status of inflammation and endothelial activation in subjects with familial hypercholesterolaemia and their related unaffected family members: a case control study

Rahman T, Hamzan NS, Mokhsin A, Rahmat R, Ibrahim ZO, Razali R, et al.

Lipids Health Dis, 2017 Apr 24;16(1):81.
PMID: 28438163 DOI: 10.1186/s12944-017-0470-1

BACKGROUND: Familial hypercholesterolaemia (FH) leads to premature coronary artery diseases (CAD) which pathophysiologically can be measured by inflammation, endothelial activation and oxidative stress status. However, the status of these biomarkers among related unaffected relatives of FH cases and whether FH is an independent predictor of these biomarkers have not been well established. Thus, this study aims to (1) compare the biomarkers of inflammation, endothelial activation and oxidative stress between patients with FH, their related unaffected relatives (RUC) and normolipaemic subjects (NC) (2)determine whether FH is an independent predictor of these biomarkers.
METHODS: One hundred thirty-one FH patients, 68 RUC and 214 matched NC were recruited. Fasting lipid profile, biomarkers of inflammation (hsCRP), endothelial activation (sICAM-1 and E-selectin) and oxidative stress [oxidized LDL (oxLDL), malondialdehyde (MDA) and F2-isoprostanes (ISP)] were analyzed and independent predictor was determined using binary logistic regression analysis.
RESULTS: hsCRP was higher in FH and RUC compared to NC (mean ± SD = 1.53 ± 1.24 mg/L and mean ± SD = 2.54 ± 2.30 vs 1.10 ± 0.89 mg/L, p 0.05). FH was an independent predictor for sICAM-1 (p = 0.007), ox-LDL (p

Matched MeSH terms: Hyperlipoproteinemia Type II/complications
Comparative aspects of the care of familial hypercholesterolemia in the "Ten Countries Study"

Pang J, Chan DC, Hu M, Muir LA, Kwok S, Charng MJ, et al.

J Clin Lipidol, 2019 01 25;13(2):287-300.
PMID: 30797720 DOI: 10.1016/j.jacl.2019.01.009

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 (ϰ = 0.667, P 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 (ϰ = 0.571-0.800, P

Matched MeSH terms: Hyperlipoproteinemia Type II/complications