Severe Combined Dyslipidemia With a Complex Genetic Basis

Background. Familial dysbetalipoproteinemia (also known as type 3 hyperlipoproteinemia) is typically associated with homozygosity for the apolipoprotein E2 isoform, but also sometimes with dominant rare missense variants in the APOE gene. Patients present with roughly equimolar elevations of cholesterol and triglyceride (TG) due to pathologic accumulation of remnant lipoprotein particles. Clinical features include tuberoeruptive xanthomas, palmar xanthomas, and premature vascular disease. Case. A 48-year-old male presented with severe combined dyslipidemia: total cholesterol and TG were 11.5 and 21.4 mmol/L, respectively. He had dyslipidemia since his early 20s, with tuberous xanthomas on his elbows and knees. His body mass index was 42 kg/m2. He also had treated hypertension, mild renal impairment, and a history of gout. He had no history of cardiovascular disease, peripheral arterial disease, or pancreatitis. Multiple medications had been advised including rosuvastatin, ezetimibe, fenofibrate, and alirocumab, but his lipid levels were never adequately controlled. Genetic Analysis. Targeted next-generation sequencing identified (1) the APOE E2/E2 homozygous genotype classically described with familial dysbetalipoproteinemia; (2) in addition, one APOE E2 allele contained the rare heterozygous missense variant p.G145D, previously termed apo E-Bethesda; (3) a rare heterozygous APOC2 nonsense variant p.Q92X; and (4) a high polygenic risk score for TG levels (16 out of 28 TG-raising alleles) at the 82nd percentile for age and sex. Conclusion. The multiple genetic “hits” on top of the classical APOE E2/E2 genotype likely explain the more severe dyslipidemia and refractory clinical phenotype.

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Drug-coated Balloons – History and Peripheral Vascular Opportunities

Interventional Cardiology Review ◽

10.15420/icr.2010.5.1.70 ◽

2010 ◽

Vol 5 (1) ◽

pp. 70

Author(s):

Bruno Scheller ◽

Bodo Cremers ◽

Stephanie Schmitmeier ◽

Beatrix Schnorr ◽

Yvonne Clever ◽

...

Keyword(s):

Arterial Disease ◽

Local Drug Delivery ◽

Term Outcome ◽

Long Term Outcome ◽

Late Lumen Loss ◽

Short Term Exposure ◽

History Of ◽

Area Of Concern ◽

Peripheral Arterial ◽

Drug Coated Balloon

One of the most innovative fields of modern medical research is the percutaneous transluminal treatment of vascular disease. During recent decades considerable advances have been made in intravascular interventions for the treatment of coronary and peripheral arterial disease. Despite these advances, the long-term outcome remains an area of concern in many applications. Restenosis is still a challenge in endovascular medicine and has thus been referred to as the Achilles’ heel of percutaneous intervention. Therefore, novel strategies have been developed to overcome this problem. These include drug-eluting stents and the more recently introduced non-stent-based local drug delivery systems (in particular the drug-coated balloon). Results from several pre-clinical and clinical studies indicate that short-term exposure of injured arteries to paclitaxel delivered from regular angioplasty balloons may be sufficient to reduce late lumen loss and restenosis rates during a critical period of time after the angioplasty of diseased coronary and peripheral arteries. Although the number of published trials and patients treated is still limited, data available seem to prove that restenosis inhibition by immediate drug release is feasible. This article reviews the history of the drug-coated balloon and then focuses on peripheral artery trials.

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TCTAP C-027 Transbrachial Intra-aortic Balloon in Patient with Acute Coronary Syndrome and History of Peripheral Arterial Disease

Journal of the American College of Cardiology ◽

10.1016/j.jacc.2018.03.472 ◽

2018 ◽

Vol 71 (16) ◽

pp. S94

Author(s):

Osama Mamdouh Shoeib ◽

Francesco Burzotta ◽

Cristina Aurigemma ◽

Carlo Trani

Keyword(s):

Acute Coronary Syndrome ◽

Peripheral Arterial Disease ◽

Arterial Disease ◽

Coronary Syndrome ◽

History Of ◽

Peripheral Arterial

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Activation Products of the Haemostatic System in Coronary, Cerebrovascular and Peripheral Arterial Disease

Thrombosis and Haemostasis ◽

10.1055/s-0037-1615700 ◽

2001 ◽

Vol 85 (02) ◽

pp. 234-239 ◽

Cited By ~ 32

Author(s):

M. L. Bots ◽

F. Haverkate ◽

P. Meijer ◽

A. Hofman ◽

C. Kluft ◽

...

Keyword(s):

Peripheral Arterial Disease ◽

Transient Ischemic Attack ◽

Pressure Ratio ◽

Arterial Disease ◽

Population Based ◽

Control Subjects ◽

History Of ◽

Ischemic Attack ◽

Peripheral Arterial ◽

D Dimer

SummaryTo determine the presence of a ‘hypercoagulable state’ as assessed by indices of thrombin and plasmin generation and of the amount of fibrin that is lysed, in patients with stable coronary, cerebral and peripheral arterial disease a population-based cross-sectional study was performed. From a population-based cohort comprising 7983 men and women aged 55 years and over, we randomly selected 127 subjects with a history of myocardial infarction, 124 with a history of stroke and/or transient ischemic attack, 131 patients with peripheral arterial disease and 263 control subjects in the same age group without arterial disease. Subjects using anticoagulant drugs were not selected. F1+2, TAT, and PAP were not associated with a history of cardiovascular events, nor with peripheral arterial disease. In contrast, positive associations were found for D-Dimer. Mean D-Dimer level was 40 μg/l (95% CI 35,44) in control subjects; 53 μg/l (47, 61) in those with a history of myocar-dial infarction and 51 μg/l (45, 58) in those with a history of stroke and or transient ischemic attack. D-Dimer increased gradually with increasing severity of peripheral atherosclerosis; a decrease in ankle/arm systolic blood pressure ratio of 0.1 was associated with an increase in D-Dimer of 3.9 μg/l (p<0.01). This was more pronounced in subjects with higher F1+2, TAT and PAP concentration. In conclusion, the markers of onset of coagulation F1+2, TAT and PAP are not associated with the presence of arterial disease, but increased levels of these markers are necessary for the positive association between D-Dimer and arterial disease.

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Case Report: ENDOVASCULAR STENTING IN PERIPHERAL ARTERIAL DISEASE OF LOWER EXTREMITY

Folia Medica Indonesiana ◽

10.20473/fmi.v52i2.5231 ◽

2017 ◽

Vol 52 (2) ◽

pp. 140

Author(s):

Yudi Her Oktaviono

Keyword(s):

Peripheral Arterial Disease ◽

Arterial Disease ◽

Transluminal Angioplasty ◽

Focal Lesions ◽

First Choice ◽

History Of ◽

Arterial Insufficiency ◽

Artery Disease ◽

Peripheral Arterial

Peripheral arterial disease (PAD) is usually caused by multilevel atherosclerotic disease, typically in patients with a history of cigarette smoking, diabetes mellitus, or both. Intermittent claudication (IC), an early manifestation of PAD, commonly leads to reduced quality of life for patients who are limited in their ambulation. Percutaneous intervention for peripheral artery disease has evolved from balloon angioplasty for simple focal lesions to multimodality techniques that enable treatment of severe arterial insufficiency. Especially for high-grade stenoses or short arterial occlusions, percutaneous transluminal angioplasty (PTA) should be the method of first choice followed by the best surgical procedure later on. To achieve good long-term efficacy, a close follow-up including objective tests of both the arterial lesion and hemodynamic status, surveillance of secondary preventive measures and risk factor control is mandatory.

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The Role of Tobacco Cessation, Antiplatelet and Lipid-Lowering Therapies in the Treatment of Peripheral Arterial Disease

Vascular Medicine ◽

10.1177/1358863x9700200314 ◽

1997 ◽

Vol 2 (3) ◽

pp. 243-251 ◽

Cited By ~ 81

Author(s):

Alan T Hirsch ◽

Diane Treat-Jacobson ◽

Harry A Lando ◽

Dorothy K Hatsukami

Keyword(s):

Peripheral Arterial Disease ◽

Arterial Disease ◽

Pharmacological Therapy ◽

Current Data ◽

Lipid Lowering ◽

History Of ◽

Medical Therapies ◽

Peripheral Arterial ◽

Interventional Therapies

Despite the widely held belief that there are no effective medical therapies for peripheral arterial disease (PAD), current data suggest that medical therapies can effectively modify the natural history of atherosclerotic lower extremity arterial occlusive disease. The ideal medical therapy would improve claudication, forestall the onset of limb-threatening events, decrease rates of invasive interventional therapies and improve long-term patient survival. These ideal outcomes might be achieved through the use of smoking cessation interventions, including behavioral and pharmacological therapy, and the administration of antiplatelet and lipid-lowering medications in patients with PAD.

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Abstract 26: Predictors of Atrial Cardiopathy Among Patients in the Arcadia Trial: An Analysis of the First 924 Patients

Stroke ◽

10.1161/str.51.suppl_1.26 ◽

2020 ◽

Vol 51 (Suppl_1) ◽

Author(s):

Mitchell Elkind ◽

Will Longstreth ◽

David Tirschwell ◽

Richard Kronmal ◽

Seemant Chaturvedi ◽

...

Keyword(s):

Standard Dose ◽

Stable Condition ◽

Indirect Evidence ◽

Arterial Disease ◽

P Wave ◽

Prior History ◽

Blood Draw ◽

Relative Risks ◽

History Of ◽

Peripheral Arterial

Background: Atrial cardiopathy (AC) in absence of atrial fibrillation is a suspected cause of embolic stroke of undetermined source (ESUS). Predictors of AC remain incompletely characterized. We hypothesized that demographics, vascular risk factors, and time from stroke presentation to assessment for AC predict AC among ESUS patients. Methods: ARCADIA is an ongoing, investigator-initiated, NINDS-funded, multicenter, randomized trial of standard dose apixaban versus aspirin 81 mg daily among consented patients with ESUS and biomarker evidence of AC, defined as any of: N-terminal pro-brain natriuretic peptide (NT-proBNP) > 250 pg/ml; P wave terminal force velocity on ECG lead V1>5,000 μV*ms; or echocardiographic left atrial diameter index ≥3 cm/m 2 . Patients may be enrolled up to 120 days after stroke. We used multivariable regression modelling to estimate relative risks and 95% confidence intervals (RR, 95%CI) for association of predictors with AC. Results: Among 924 ESUS patients who met inclusion/exclusion criteria as of July 16, 2019, 251 met > 1 AC criterion (164 NT-proBNP, 114 PTFV1, 4 echo). Compared to those without AC (n=673), those with AC were older (69.0 + 14.5 versus 64.0 + 15.0 years) and more often women (52.2% versus 40.9%). Multivariable predictors of AC were age (RR per decade 1.20, 95%CI 1.09-1.32), race (black versus other RR 1.20, 95%CI 0.95-1.52), sex (RR for women 1.22, 95%CI 0.98-1.52), hemoglobin (per unit RR 0.94, 95%CI 0.88-1.01), and cardiovascular/peripheral arterial disease, RR 1.48, 95%CI 1.16-1.88). Prior history of stroke or TIA, hypertension, diabetes, smoking, cancer, sleep apnea, and time from stroke to consent and blood draw for NT-proBNP were not associated with AC. Conclusions: Older age, female sex, black race, relative anemia, and history of vascular disease associate with AC among ESUS patients. Absence of association with time to assessment, particularly testing for NT-proBNP, provides indirect evidence that AC is not a reaction to stroke, but a stable condition, and supports patients being assessed for ARCADIA participation up to 4 months post stroke. The moderate strength of demographic associations with AC further underscores the importance of enrolling unselected ESUS patients into ARCADIA.

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