Vol 2, No 2 (2014) by Claudia Stefanutti
Background and aims: For patients with homozygous familial hypercholesterolemia (HoFH), atherogen... more Background and aims: For patients with homozygous familial hypercholesterolemia (HoFH), atherogenic lipoprotein changes and increased stress on cardiovascular system during pregnancy may pose substantial risk for both the mother and her fetus. Although lipoprotein apheresis (LA) is reported as the most effective therapy to control LDL-C levels during pregnancy in HoFH patients, only case reports have been published, and there is no guidance for management. Methods: We report twelve pregnancies and ten deliveries in seven patients with HoFH, and compare the clinical outcomes between patients who received LA during pregnancy and those who did not. Results: One patient who refused LA during pregnancy died from acute myocardial infarction after delivery. Another patient whose adherence to LA was poor also died of myocardial infarction during pregnancy. One patient who initiated LA at the age of 18 had to discontinue LA due to severe symptoms of angina pectoris during pregnancy. Another had symptoms of nausea, hypotension, and bradycardia with increased levels of serum bradykinin during a dextran sulfate cellulose absorption-based LA procedure. Although two of the other three patients had already had coronary artery disease by the time of pregnancy, early initiation of LA from childhood and good adherence to it during pregnancy resulted in the delivery of healthy infants without adverse effects. Conclusions: LA is essential for managing pregnancy safely in patients with HoFH. Increasing numbers of documented cases, including ours, will be helpful to guide future therapeutic decisions.
This editorial refers to 'Alirocumab in patients with heterozygous familial hypercholesterolaemia... more This editorial refers to 'Alirocumab in patients with heterozygous familial hypercholesterolaemia undergoing lipoprotein apheresis: the ODYSSEY ESCAPE trial' † , by P.M. Moriarty et al., on page 3588.
clinically helpful in emergency, in deferred urgency and in chronic, long-term use. As these tech... more clinically helpful in emergency, in deferred urgency and in chronic, long-term use. As these techniques are invasive and relatively complex, appropriate equipment and highly skillful medical and non-medical staff personnel is a necessary complement.
Papers by Claudia Stefanutti
European Heart Journal
Background Familial hypercholesterolemia (FH) is characterised by high plasma levels of low-densi... more Background Familial hypercholesterolemia (FH) is characterised by high plasma levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Previous studies show that carotid intima-media thickness (cIMT) is increased in children with FH, an indicator of early ASCVD. Add-on treatment with the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor, evolocumab, substantially reduced atherosclerotic lipid levels in children with heterozygous FH (HeFH) and was safe and well tolerated. The effect of evolocumab on cIMT in paediatric patients (pts) has not been investigated. Purpose To investigate the effect of evolocumab treatment on cIMT progression in paediatric pts with HeFH. Methods HAUSER-RCT was a multicenter, randomised, placebo-controlled study in which paediatric FH pts (ages 10–17 years) received monthly subcutaneous injections of evolocumab 420 mg or placebo. Of 157 pts, 150 continued to an open-la...
ABSTRACT Not available. Language: Italian
Permissions: Requests for permissions to reproduce figures, tables, or portions of articles origi... more Permissions: Requests for permissions to reproduce figures, tables, or portions of articles originally published in Arteriosclerosis, Thrombosis, and Vascular Biology can be obtained via RightsLink, a service of the Copyright Clearance Center, not the Editorial Office. Once the online version of the published article for which permission is being requested is located, click Request Permissions in the middle column of the Web page under Services. Further information about this process is available in the Permissions and Rights Question and Answer document. Reprints: Information about reprints can be found online at:
Activation of circulating leukocytes in familial hypercholesterolemia, as determined by ultrastru... more Activation of circulating leukocytes in familial hypercholesterolemia, as determined by ultrastructural morphometr
Activation of leukocytes in familial hypercholetrolemia, as determined by ultrastructural morphom... more Activation of leukocytes in familial hypercholetrolemia, as determined by ultrastructural morphometry, was reverted by LDL-apheresi
JAMA Cardiology, 2020
Representatives of the Global Familial Hypercholesterolemia Community IMPORTANCE Familial hyperch... more Representatives of the Global Familial Hypercholesterolemia Community IMPORTANCE Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH. OBSERVATIONS In 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created. CONCLUSIONS AND RELEVANCE By adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.
Progress in Cardiovascular Diseases, 2021
Inflammation is a marker of arterial disease stemming from cholesterol-dependent to-independent m... more Inflammation is a marker of arterial disease stemming from cholesterol-dependent to-independent molecular mechanisms. In recent years, the role of inflammation in atherogenesis has been underpinned by pharmacological approaches targeting systemic inflammation that have led to a significant reduction in cardiovascular disease (CVD) risk. Although the use of nutraceuticals to prevent CVD has largely focused on lipid-lowering (e.g, redyeast rice and omega-3 fatty acids), there is growing interest and need, especially now in the time of coronavirus pandemic, in the use of nutraceuticals to reduce inflammatory markers, and potentially the inflammatory CVD burden, however, there is still not enough evidence to confirm this. Indeed, diet is an important lifestyle determinant of health and can influence both systemic and vascular inflammation, to varying extents, according to the individual nutraceutical constituents. Thus, the aim of this Position Paper is to provide the first attempt at recommendations on the use of nutraceuticals with effective anti-inflammatory properties.
Il Giornale di chirurgia
Cardiovascular prevention has been developed in the last eight years producing an ever increasing... more Cardiovascular prevention has been developed in the last eight years producing an ever increasing amount of data requiring frequent updating. Studies using angiography to determine change in coronary obstruction have indicated progression, stabilization, or regression of coronary lesions associated with changes in plasma lipids and lipoproteins. Moreover, the guidelines on arterial hypertension published in 2007 listed the risk factors affecting prognosis but even by 2009 an update modified not only the list of risks, but even the philosophy behind the thought process which introduced as essential element in the prognosis of hypertension the ascertained existence of a damaged organ. Thus, the documentation of atherosclerotic vascular disease (plaques) and the quantification of its extension in the arterial tree became a determinant in the definition of cardiovascular risk. Magnetic Resonance (MRI) and coronary computed tomography (coro CT) applied to the heart and large vessels are ...
European Journal of Clinical Investigation, 2006
Background The influence of supplementing the diet with long-chain n-3 polyunsaturated fatty acid... more Background The influence of supplementing the diet with long-chain n-3 polyunsaturated fatty acids (PUFA) from fish oil on plasma lipids and lipid peroxides and the production of pro-inflammatory mediators in normolipidaemic and hypercholesterolaemic rats were studied. Materials and methods Rats were divided into four groups and fed one of the following diets: a control diet (containing 4% corn oil); an n-3 PUFA diet [containing 4% eicospentaenoic (EPA) + docosahexaenoic (DHA)]; a hypercholesterolaemic diet (HCH); or a HCH + n-3 PUFA diet over a 4-week period. Plasma lipids, lipid peroxides, cytokines [tumour necrosis factor (TNF) α , interleukin (IL)-6, interferon (IFN) γ ] and mRNA for hepatic nuclear factor-4 α (HNF4 α) were determined. Results Plasma triglyceride (TG), but not cholesterol, levels were decreased by the n-3 PUFA as compared with the control diet (P < 0•001), but the addition of n-3 PUFA to the HCH diet decreased both the TG (P < 0•01) and cholesterol (P < 0•05) concentrations. Plasma lipid peroxides and expression HNF4 α mRNA were increased by n-3 PUFA in the normolipidaemic (P < 0•05), but not in the hyperlipidaemic rats. Compared with the control diet group, plasma concentrations of TNF α and IL-6 were increased in the n-3 PUFA (P < 0•05) and HCH diet (P < 0•05, P < 0•01, respectively) groups, but not in animals given the HCH + n-3 PUFA diet, whereas IFN γ levels were increased in hypercholesterolaemia (P < 0•05), but were unaffected by n-3 PUFA. Conclusion These results demonstrate that the major effect of fish oil n-3 PUFA is to lower the TG levels in both normo-and hyperlipidaemia. Furthermore, in the hypercholesterolaemic state, fish oil n-3 PUFA induces additional beneficial changes in the immune and peroxidation responses.
PROGRESS IN SYSTEMIC LUPUS …
Studio clinico pilota in pazienti con LES ed associate severe complicanze sottoposti a trattament... more Studio clinico pilota in pazienti con LES ed associate severe complicanze sottoposti a trattamento extracorporeo mediante aferesi per immunoadsorbimento (Selesorb
![Research paper thumbnail of The lipid- and lipoprotein- [LDL-Lp(a)] apheresis techniques. Updating](https://attachments.academia-assets.com/43375755/thumbnails/1.jpg)
Il Giornale di chirurgia
Therapeutic plasmapheresis allows the extracorporeal removal of plasmatic lipoproteins (Lipid-aph... more Therapeutic plasmapheresis allows the extracorporeal removal of plasmatic lipoproteins (Lipid-apheresis) (LA). It can be non selective (non specific), semi - selective or selective low density lipoprotein-lipoprotein(a) (specific [LDL- Lp(a)] apheresis) (Lipoprotein apheresis, LDLa). The LDL removal rate is a perfect parameter to assess the system efficiency. Plasma-Exchange (PEX) cannot be considered either specific nor, selective. In PEX the whole blood is separated into plasma and its corpuscular components usually through centrifugation or rather filtration. The corpuscular components mixed with albumin solution plus saline (NaCl 0.9%) solution at 20%-25%, are then reinfused to the patient, to substitute the plasma formerly removed. PEX eliminates atherogenic lipoproteins, but also other essential plasma proteins, such as albumin, immunoglobulins, and hemocoagulatory mediators. Cascade filtration (CF) is a method based on plasma separation and removal of plasma proteins through ...
Artificial Organs, 2008
Hypercholesterolemia and elevated lipoprotein (a) (Lp[a]) levels are considered to be risk factor... more Hypercholesterolemia and elevated lipoprotein (a) (Lp[a]) levels are considered to be risk factors for the development and progression of premature atherosclerosis. The purpose of our report is to describe the effects of low density lipoprotein (LDL) apheresis (Liposorber system, Kanegafuchi Chemical Industrial Company LTD, Osaka, Japan) on serum lipoprotein concentrations and the clinical status in 2 male patients with homozygous familial hypercholesterolemia. Compared with pretreatment values, the posttreatment concentrations of total cholesterol, LDL cholesterol, and Lp(a) were significantly reduced by 50-60% (p < 0.0001). The concentration of high density lipoprotein (HDL) cholesterol was slightly affected. After one treatment session, LDL cholesterol and Lp(a) were decreased on average by 65% and then increased to reach about 7&75% of the pretreatment values before the next session. Prior to the treatment with LDL apheresis, each patient had suffered one myocardial infarction and had had 2 coronary angiographies. After treatment with LDL apheresis, neither cardiac complaints nor myocardial infarction were observed. The xanthomas were much decreased during the treatment or disappeared. We conclude that LDL apheresis can be continued safely and without major technical problems for several years. Apheresis effectively lowers the serum levels of total and LDL cholesterol. Furthermore, it reduces Lp(a), which is not influenced by lipid-lowering drugs. The reduction of LDL cholesterol and Lp(a) may delay the progression of the atherosclerotic process, thereby helping to reduce the risk of new episodes of coronary heart disease and thus extending the life expectancy in these patients.
Therapeutic Apheresis and Dialysis, 2013
![Research paper thumbnail of Lipid and lipoprotein (Low Density Lipoprotein) apheresis in pregnancy [Lipidoaferesi ed LDL-aferesi in gravidanza]](https://a.academia-assets.com/images/blank-paper.jpg)
Pregnancy and delivery in a women with a severe genetically determined hyperlipidemia is a rare e... more Pregnancy and delivery in a women with a severe genetically determined hyperlipidemia is a rare event, but not impossible. Increasing morbidity and mortality of both mother and child due to severe hyperlipidemia already existing, or induced by change of sex hormones concentration may occur during pregnancy. Reasonable therapeutic measures are to be undertaken to prevent complications, inevitably. However, it is also well-known that lipid lowering drugs are contraindicated during pregnancy. Notwithstanding, when critical clinical conditions occur there is the need to provide a therapeutic option. Lipid and Lipoprotein apheresis are recognized effective and reasonably safe, although invasive treatment for severe disorders of lipid and lipoprotein metabolism. Therapeutic Lipid apheresis (Plasma-exchange, Cascade Filtration) and Lipoprotein apheresis (Dextran Sulphate, H.E.L.P., and D.A.Li. Low Density Lipoprotein apheresis) offer an alternative, to be used in selected cases to reduce h...
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Vol 2, No 2 (2014) by Claudia Stefanutti
Papers by Claudia Stefanutti