The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?

Objective To assess the relationship of levels of inflammatory risk markers to presence of clinical coronary artery disease (CAD) in patients with treated heterozygous familial hypercholesterolaemia. Design A cross-sectional study of patients on the Simon Broome Familial Hyperlipidaemia Register. Setting Six hospital outpatient clinics in the UK. Participants A total of 211 men and 199 women with heterozygous familial hypercholesterolaemia. Main outcome measures Analysis of conventional risk factors and concentrations of high-sensitivity C-reactive protein (hsCRP), lipoprotein (a), serum intercellular adhesion molecule (sICAM), interIeukin-6 (IL-6) and lipoprotein-associated phospholipase A2 (LpPLA2) mass. Results CAD was present in 104 men and in 55 women; the mean ages of onset were 43.1 and 46.5 years, respectively. On univariate analysis there was a positive relationship of CAD with age, male sex, smoking, IL-6 and sICAM, and an inverse relationship with low-density lipoprotein (LDL) and LpPLA2. On multivariate analysis, age, smoking, low LDL and low LpPLA2 were associated with CAD. When LpPLA2 values were adjusted for apoB and aspirin usage, there was no significant difference between those with and without CAD. Only age and smoking were independently associated with CAD in men, and IL-6 and lipoprotein(a) in women. Conclusions Although on univariate analysis inflammatory marker levels were associated with CAD in these patients, the majority of the associations, including that for hsCRP, disappeared when corrected for smoking and apoB. This may be because atherosclerotic plaques in these statin-treated patients were quiescent or an effect of aspirin usage. In this observational study newer risk markers were not usefully associated with the presence or absence of symptomatic CAD.

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Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia

Heart ◽

10.1136/heart.89.8.893 ◽

2003 ◽

Vol 89 (8) ◽

pp. 893-896 ◽

Cited By ~ 45

Author(s):

S van Wissen

Keyword(s):

Familial Hypercholesterolaemia ◽

Statin Treatment ◽

Lipoprotein A ◽

Heterozygous Familial Hypercholesterolaemia

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Th-P15:170 Plasma lipoprotein (A) levels and LDL-cholesterol lowering response to statin therapy in patients with heterozygous familial hypercholesterolaemia

Atherosclerosis Supplements ◽

10.1016/s1567-5688(06)82130-6 ◽

2006 ◽

Vol 7 (3) ◽

pp. 530

Author(s):

G. Miltiadous ◽

M. Cariolou ◽

Z.O.I. Mitrogianni ◽

M. Doumas ◽

V. Saougkos ◽

...

Keyword(s):

Statin Therapy ◽

Ldl Cholesterol ◽

Familial Hypercholesterolaemia ◽

Plasma Lipoprotein ◽

Cholesterol Lowering ◽

Lipoprotein A ◽

Heterozygous Familial Hypercholesterolaemia

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Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis

BMJ Open ◽

10.1136/bmjopen-2019-030290 ◽

2019 ◽

Vol 9 (7) ◽

pp. e030290 ◽

Cited By ~ 7

Author(s):

Fiona J Kinnear ◽

Elaine Wainwright ◽

Rachel Perry ◽

Fiona E Lithander ◽

Graham Bayly ◽

...

Keyword(s):

Clinical Practice ◽

Treatment Adherence ◽

Familial Hypercholesterolaemia ◽

Family Members ◽

Personal Control ◽

Qualitative Studies ◽

Cochrane Library ◽

Barriers To Treatment ◽

Thematic Synthesis ◽

Heterozygous Familial Hypercholesterolaemia

ObjectivesIndividuals with heterozygous familial hypercholesterolaemia (FH) are at high risk of developing cardiovascular disease (CVD). This risk can be substantially reduced with lifelong pharmacological and lifestyle treatment; however, research suggests adherence is poor. We synthesised the qualitative research to identify enablers and barriers to treatment adherence.DesignThis study conducted a thematic synthesis of qualitative studies.Data sourcesMEDLINE, Embase, PsycINFO via OVID, Cochrane library and CINAHL databases and grey literature sources were searched through September 2018.Eligibility criteriaWe included studies conducted in individuals with FH, and their family members, which reported primary qualitative data regarding their experiences of and beliefs about their condition and its treatment.Data extraction and synthesisQuality assessment was undertaken using the Critical Appraisal Skills Programme for qualitative studies. A thematic synthesis was conducted to uncover descriptive and generate analytical themes. These findings were then used to identify enablers and barriers to treatment adherence for application in clinical practice.Results24 papers reporting the findings of 15 population samples (264 individuals with FH and 13 of their family members) across 8 countries were included. Data captured within 20 descriptive themes were considered in relation to treatment adherence and 6 analytical themes were generated: risk assessment; perceived personal control of health; disease identity; family influence; informed decision-making; and incorporating treatment into daily life. These findings were used to identify seven enablers (eg, ‘commencement of treatment from a young age’) and six barriers (eg, ‘incorrect and/or inadequate knowledge of treatment advice’) to treatment adherence. There were insufficient data to explore if the findings differed between adults and children.ConclusionsThe findings reveal several enablers and barriers to treatment adherence in individuals with FH. These could be used in clinical practice to facilitate optimal adherence to lifelong treatment thereby minimising the risk of CVD in this vulnerable population.PROSPERO registration numberCRD42018085946.

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Treatment of familial hypercholesterolaemia in children and adolescents in the last three decades

Cardiology in the Young ◽

10.1017/s1047951113000528 ◽

2013 ◽

Vol 24 (3) ◽

pp. 437-441 ◽

Cited By ~ 9

Author(s):

Avishay Elis ◽

Rong Zhou ◽

Evan A. Stein

Keyword(s):

Children And Adolescents ◽

Familial Hypercholesterolaemia ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipoprotein Cholesterol ◽

Low Density ◽

Low Density Lipoprotein Cholesterol ◽

Cholesterol Levels ◽

Heterozygous Familial Hypercholesterolaemia

AbstractBackground:This study evaluated the effectiveness of long-term intensive lipid-lowering therapy in children and adolescents with familial hypercholesterolaemia.Methods:The charts of 89 children and adolescents with heterozygous familial hypercholesterolaemia among ∼1000 patients treated from 1974 to 2008 were reviewed. Familial hypercholesterolaemia was defined as low-density lipoprotein cholesterol level >90th percentile in individuals with a history of familial hypercholesterolaemia.Results:Of the 89 patients, 51% were male; the mean age at diagnosis was 8 ± 4 years, and the mean follow-up was 13 ± 8 years. Baseline and most recent low-density lipoprotein cholesterol levels (mg/dl) under treatment were 250 ± 50 and 142 ± 49, respectively, reduced 43% from baseline (p < 0.0001). At the most recent visit, 39 patients received statin monotherapy, mainly atorvastatin or rosuvastatin, and 50 (56%) patients received combination therapy, mainly vytorin or rosuvastain/ezetimibe, 15 patients were >30 years of age, and none developed symptomatic cardiovascular disease or needed revascularisation.Conclusions:Long-term statin-based therapy can reduce low-density lipoprotein cholesterol levels in most children and adolescents with heterozygous familial hypercholesterolaemia and decrease cardiovascular risk significantly.

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Enhanced postprandial RLP-Cholesterol decreased after simvastatin in heterozygous familial hypercholesterolaemia (FH) patients

Atherosclerosis ◽

10.1016/s0021-9150(00)81367-2 ◽

2000 ◽

Vol 151 (1) ◽

pp. 301

Author(s):

Th.B. Twickler ◽

G.M. Dallinga-Thie ◽

P.C.N.J. Schreuder ◽

H.W. de Valk ◽

M. Castro Cabezas ◽

...

Keyword(s):

Familial Hypercholesterolaemia ◽

Heterozygous Familial Hypercholesterolaemia

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Extracorporeal LDL-Cholesterol Elimination in the Treatment of Severe Familial Hypercholesterolemia

Acta Medica (Hradec Kralove Czech Republic) ◽

10.14712/18059694.2019.1 ◽

2003 ◽

Vol 46 (1) ◽

pp. 3-7 ◽

Cited By ~ 8

Author(s):

Milan Bláha

Keyword(s):

Ldl Cholesterol ◽

Familial Hypercholesterolaemia ◽

Ldl Apheresis ◽

Ecg Changes ◽

Bicycle Ergometry ◽

Life Saving ◽

Significant Regression ◽

Heterozygous Familial Hypercholesterolaemia ◽

Atherosclerotic Changes ◽

Direct Adsorption

The extracorporeal elimination of LDL-cholesterol could be performed using the classic non-selective centrifuge or membrane plasmapheresis. The modern methods are more selective and effective. The atherogenic particules are removed from plasma by active colon or capsula. The methods include: cascade filtration, imunoadsorbtion, heparin-induced precipitation of LDL, thermofiltration, dextran-induced precipitation of LDL and direct adsorption of lipids (DALI). The regular LDL-apheresis is the life-saving technique in the treatment of homozygous familial hypercholesterolaemia. It is used in heterozygous familial hypercholesterolaemia when the patients do not respond to diet and drugs therapy, too. The regular LDL-apheresis treatment may be followed by the decreased frequency of angina pain episodes, the reduction of ECG changes during the bicycle ergometry and significant disappearance of tendinous xantomas. Some prospective randomised studies has shown even in this group of patients, resistant to conventional treatment, a significant regression of atherosclerotic changes.

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