DOCSLIB.ORG

An Educational Booklet for Patients with Familial Hypercholesterolemia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
An Educational Booklet for Patients with Familial Hypercholesterolemia Illustrations > Jean Lambert Illustrations graphic design > www.mine-de-rien.net graphic Chol/29/P030/01-01/10 NLA An educational booklet for patients with familial hypercholesterolemia This brochure was provided by Genzyme Corporation for use by the Foundation of the National Lipid Association. DR. LEIV OSE www.learnyourlipids.com CONTENTS PART 1 What will you learn from this booklet? 02 FAMILIAL HYPERCHOLESTEROLEMIA PART 1: FAMILIAL HYPERCHOLESTEROLEMIA 03 1 - What is Familial Hypercholesterolemia? 03 WHAT WILL YOU 2 - What is LDL-Cholesterol? 04 3 - What are the causes of FH? 05 LEARN FROM THIS GREAT GRANDMOTHER GREAT GRANDFATHER 4 - When should FH be suspected? 07 FH NON FH BOOKLET? 5 - How is FH diagnosed? 09 6 - How early can FH be diagnosed? 09 Woman You will learn about Familial PART 2: TREATMENT 10 GRANDMOTHER GRANDFATHER Hypercholesterolemia, NON FH FH Woman with FH 1 - How can LDL-Cholesterol be reduced? 10 its cause, and the potential 2 - Step 1: Dietary management of FH 11 Man consequences of this a) How does diet affect LDL-Cholesterol? 11 disease. You will learn b) What sort of diet? 11 Man with FH about high cholesterol 3 - Step 2: Using medication 12 AUNT MOTHER FATHER UNCLE and what this might mean a) How does medication affect LDL-Cholesterol? 12 NON FH FH NON FH FH for your heart and blood b) Which drug treatments reduce LDL-Cholesterol and how? 13 FIGURE 1: 4 - Why is lifelong treatment important? vessels. Most importantly 15 FH is an inherited disease, you will learn how to find PART 3: CARDIOVASCULAR DISEASE AND LIPOPROTEINS 16 which can usually be traced out whether someone in 1 - What is cardiovascular disease? 16 DAUGTER SON over several generations. your family has this disease 2 - What are risk factors? 17 NON FH FH and how you can reduce 3 - Is it possible to reduce the risk of cardiovascular disease in FH? 18 high cholesterol by adopting 4 - What are lipoproteins? 18 5 - What are lipids, cholesterol and triglycerides? 1 a healthy lifestyle and 20 What is Familial Hypercholesterolemia? receiving treatment. PART 4: OTHER QUESTIONS THAT YOU MIGHT HAVE 21 Familial Hypercholesterolemia (FH) is an inherited high blood cholesterol. The type of cholesterol that is This booklet can also serve 1 - Why is physical activity beneficial? 21 disease, where a genetic alteration causing high specifically increased in Familial Hypercholesterolemia as a starting point to help 2 - Does smoking affect lipids? 22 blood cholesterol is transmitted from generation to is Low Density Lipoprotein-Cholesterol (LDL-C). LDL- you discuss your disease What have you learned from this booklet? 23 generation (see figure 1). Familial means it runs in Cholesterol floats in the blood stream and transports and treatment with Glossary 24 families; sometimes it is possible to trace the disease cholesterol from one cell in your body to another cell your doctor. About the author 26 over several generations. Hypercholesterolemia means (see parts 1.2 and 3.4). 2 3 FH is one of the most common hereditary disorders. lifestyle factors such as diet, smoking and level of Approximately 1 in 500 people in the world has a physical activity, and whether you are male or female. IMPORTANT genetic alteration that causes FH1. If one parent has Women with FH are affected by cardiovascular FH, there is a 50% chance that their son or daughter disease approximately 10 years later than men with LDL-C transports cholesterol in your blood to cells. Cholesterol is needed to build cells, will also have it. FH2. With early and appropriate treatment the risk of make hormones and make bile acids. However, if there is too much LDL-Cholesterol cardiovascular disease can be reduced significantly. FH is associated with an increased risk of cardiovascular it will be deposited in blood vessel walls. This phenomenon is called atherosclerosis. disease1. Risk varies from family to family and is 1. Ose. Cardiovascular Drugs and Therapy 16 289–293 2002. influenced by cholesterol level, other hereditary factors, 2. Slack, Lancet 1969;2:1380. 3 What are the causes of FH? IMPORTANT FH is inherited and runs in families. It causes high blood cholesterol, specifically LDL-Cholesterol, and an increased risk of cardiovascular disease early in life. 2 What is LDL-Cholesterol? Cell Cell nucleus Chromosome DNA FIGURE 2: Low Density Lipoprotein-Cholesterol (LDL-C) is a To t ransport cholesterol into specific cells, the LDL-C DNA, which is over one meter in length, is packed in chromosomes. Chromosomes are packed into the cell nucleus, particle that floats in the blood stream and acts as an particle has a specific protein attached to it named which is inside the cell. efficient transport system that carries cholesterol from Apo-lipoprotein B or ApoB. ApoB acts as a bridge one cell to another in your body. Cholesterol is a fatty between the LDL-C particle and the cells in your The characteristics we inherit from our parents are within a specific gene can result in a hereditary illness. substance that is needed by your body to build cells, body that carry the LDL-receptor (which helps the determined by information carried on a strand of In FH there is a change in the gene that codes for the to make hormones, and to make bile acids in the liver cell recognize LDL-C). If the LDL-receptor or ApoB DNA that totals well over one meter in length. DNA LDL-receptor. This receptor sits on the surface of cells (see part 3.5). protein is not normal, the level of cholesterol in is organized into chromosomes found in the nuclei and can be thought of as a ‘tentacle’ that removes your blood will increase. This is the case in Familial of cells (figure 2). DNA consists of approximately cholesterol-containing LDL-C particles from the blood Too much LDL-Cholesterol in your blood stream is not Hypercholesterolemia. 3 billion building blocks, of which 25,000 specific (figure 3). The change in the LDL-receptor gene results good for you; excess cholesterol can be deposited in combinations make genes. Genes are a code for physical in abnormal LDL-receptors (‘tentacles’) making them the walls of blood vessels making them narrower and characteristics, such as eye and hair color, but also many unable to remove LDL-Cholesterol from the blood. causing the onset of atherosclerosis. Atherosclerosis diseases. A change in just one of these building blocks This is the cause of FH. can lead to cardiovascular diseases (see part 3). 4 5 Most people with FH have inherited one defective Normal Abnormal LDL-receptor gene from one of their parents, and cell LDL cell FIGURE 4: one normal LDL-receptor gene from the other LDL In FH (abnormal cell) there are LDL parent. Consequently, they have only approximately fewer LDL receptors able to 50% of the normal number of working LDL-receptors take LDL-Cholesterol out of (‘tentacles’) on the surface of cells (figure 4). This the blood. means that there is always an unnecessarily high LDL-receptor LDL-receptor amount of LDL-Cholesterol circulating in the blood. The problem is that excess LDL-Cholesterol can be Blood stream Cell LDL particle LDL-receptor Apo-B deposited in the blood vessel wall. IMPORTANT FH is caused by a change in the gene that codes for the LDL-receptor. The defective LDL-receptor LDL-receptor cannot take up LDL-Cholesterol from the blood into the cell. Excess cholesterol is deposited in blood vessel walls. 4 When should FH be suspected? FH is suspected if there is a family history of cardiovascular disease early in life. If a person suffers a heart Cell membrane attack before the age of 50-60, it may be due to high cholesterol and blood lipid profiles must be investigated in the family: FIGURE 3: Lipid profile means the assessment of the various types FH diagnosis at a young age is important. Treatment The LDL-receptor is attached at one end to of lipoproteins in the blood (see part 3.4) such as is more effective when started early and before the cell membrane. The other end binds to total cholesterol, LDL-Cholesterol, HDL-Cholesterol cholesterol deposition in the blood vessel wall becomes LDL-Cholesterol particles. and triglycerides. too advanced. 6 7 There are some physical signs (figure 5) that might raise eyes (xanthelasmas), but these are not always present 5 a suspicion of FH such as swollen tendons on the heels in patients with FH. How is FH diagnosed? and hands (xanthoma) or yellowish areas around the FH is usually first recognized by abnormally high levels of defects throughout the entire LDL-receptor gene in Xanthoma Xanthelasmas LDL-C as seen on a cholesterol test and other signs and chromosome 19. People who have the inherited gene symptoms. In addition, genetic testing may be performed defect will have FH. Close relatives, such as parents, to confirm the diagnosis3. A blood sample is taken so brothers and sisters and children of someone with FH, that DNA can be isolated from the cell nucleus of white have a 50% risk of also having inherited FH. Testing family blood cells. The DNA is then studied. FH is diagnosed members is crucial for early detection of the disease. by finding the defective gene for the LDL-receptor. Genetic testing involves a systematic search for gene 3. Schuster, Luft, Arteriosclerosis, Thrombosis, and Vascular Biology, 1998;18:331-332. FIGURE 5: Visible physical signs of FH include swollen tendons on the back of the heel (often observed in adolescents) IMPORTANT and yellow deposits in the skin around the eyes. A white deposit of cholesterol in the shape of an arc may also be seen at the edge of the colored part of the eye.
Load more

Recommended publications
  • Core Laboratory
    Performance of the vast majority of Hematology, Coagulation, Urinalysis, Clinical Chemistry and Toxicology testing procedures is conducted in the CORE LABORATORY - an advanced, highly automated area where whole blood, serum, plasma, urine and other biological fluid specimens are tested for a comprehensive menu of state-of-the-art laboratory procedures. Significant testing procedures for Clinical Chemistry and Toxicology includes panels currently approved by the Centers for Medicare and Medicaid Services: Basic Metabolic Panel; Comprehensive Metabolic Panel; Liver Function Panel; Renal Function Panel; and Electrolyte Panel. Other key tests include the Lipid Profile (Cholesterol, Triglyceride, HDL- Cholesterol and LDL-Cholesterol), major markers of cardiovascular disease and risk [such as Troponin I, Myoglobin and Beta-type natriuretic peptide (commonly referred to as BNAT or BNP)], critical care analytes, beta-HCG, and significant therapeutic drug levels. Urinary toxicology screens for major drugs of abuse (and/or key metabolites) are also performed. The cornerstones of Hematology testing are analyses of the complete blood count (CBC) and the differential (DIFF). These include evaluation of: (1) white blood cell count and differential with percentage and absolute value given for the leukocyte components; (2) circulating erythrocytes by means of hemoglobin, hematocrit, red blood cell count, and red blood cell indices; and (3) measurement of platelet concentration by count and/or estimation. Morphological variations and changes of cellular constituents are reported. Alteration of any aspect of the hemostatic mechanism may cause abnormal bleeding in a wide variety of familial and acquired disorders. These defects may be differentiated by a profile of significant Coagulation laboratory tests that includes PT, PTT, Fibrinogen, FDP, and D-Dimer for monitoring anticoagulant therapy.
    [Show full text]
  • High Burden of Recurrent Cardiovascular Events
    High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry Sophie Béliard, Franck Boccara, Bertrand Cariou, Alain Carrié, Xavier Collet, Michel Farnier, Jean Ferrières, Michael Krempf, Noël Peretti, Jean Pierre Rabès, et al. To cite this version: Sophie Béliard, Franck Boccara, Bertrand Cariou, Alain Carrié, Xavier Collet, et al.. High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry. Atherosclerosis, Elsevier, 2018, 277, pp.334-340. 10.1016/j.atherosclerosis.2018.08.010. hal-01996274 HAL Id: hal-01996274 https://hal-amu.archives-ouvertes.fr/hal-01996274 Submitted on 1 Feb 2019 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Distributed under a Creative Commons Attribution| 4.0 International License Elsevier Editorial System(tm) for Atherosclerosis Manuscript Draft Manuscript Number: ATH-D-18-00445R1 Title: High burden of recurrent cardiovascular events in heterozygous familial
    [Show full text]
  • Genetic Testing for Familial Hypercholesterolemia AHS – M2137
    Corporate Medical Policy Genetic Testing for Familial Hypercholesterolemia AHS – M2137 File Name: genetic_testing_for_familial_hypercholesterolemia Origination: 01/01/2019 Last CAP Review: 07/2021 Next CAP Review: 07/2022 Last Review: 07/2021 Description of Procedure or Service Definitions Familial hypercholesterolemia (FH) is a genetic condition that results in premature atherosclerotic cardiovascular disease due to lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels (Sturm et al., 2018). FH encompasses multiple clinical phenotypes associated with distinct molecular etiologies. The most common is an autosomal dominant disorder caused by mutations in one of three genes, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin-like kexin type 9 (PCSK9) (Ahmad et al., 2016; Goldberg et al., 2011). Rare autosomal recessive disease results from mutation in low-density lipoprotein receptor adaptor protein (LDLRAP) (Garcia et al., 2001). Related Policies Cardiovascular Disease Risk Assessment AHS – G2050 ***Note: This Medical Policy is complex and technical. For questions concerning the technical language and/or specific clinical indications for its use, please consult your physician. Policy BCBSNC will provide coverage for genetic testing for familial hypercholesterolemia when it is determined the medical criteria or reimbursement guidelines below are met. Benefits Application This medical policy relates only to the services or supplies described herein. Please refer to the Member's Benefit Booklet for availability of benefits. Member's benefits may vary according to benefit design; therefore member benefit language should be reviewed before applying the terms of this medical policy. When Genetic Testing for Familial Hypercholesterolemia is covered 1. Genetic testing to establish a molecular diagnosis of Familial Hypercholesterolemia is considered medically necessary when BOTH of the following criteria are met: A.
    [Show full text]
  • Inflammatory Mechanisms Affecting the Lipid Profile in Patients with Systemic Lupus Erythematosus CECILIA P
    Inflammatory Mechanisms Affecting the Lipid Profile in Patients with Systemic Lupus Erythematosus CECILIA P. CHUNG, ANNETTE OESER, JOSEPH SOLUS, INGRID AVALOS, TEBEB GEBRETSADIK, AYUMI SHINTANI, MacRAE F. LINTON, SERGIO FAZIO, and C. MICHAEL STEIN ABSTRACT. Objective. Increased low density lipoprotein (LDL) cholesterol and triglycerides, and decreased high density lipoprotein (HDL) cholesterol concentrations are associated with adverse cardiovascular risk in the general population. Patients with systemic lupus erythematosus (SLE) have an altered lipid profile characterized by increased triglycerides and decreased HDL cholesterol concentrations. We examined the relationships between lipid concentrations, cytokines, and inflammatory markers in patients with SLE. Methods. Fasting lipid concentrations, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) were measured in 110 patients with SLE. Disease activity was quantified by the SLE Disease Activity Index (SLEDAI), and disease damage by the Systemic Lupus International Collaborating Clinics (SLICC) score. Concentrations of circulating tumor necrosis factor-α (TNF-α), interleukin 6 (IL-6), and insulin were measured and insulin sensitivity calculated. Results. Lower concentrations of HDL cholesterol were independently associated with higher ESR (p < 0.001), IL-6 (p = 0.02), SLEDAI (p = 0.04), and TNF-α (p = 0.04) after adjustment for age, sex, race, body mass index, insulin sensitivity, and current use of corticosteroids or hydroxychloroquine. Triglyceride concentrations were
    [Show full text]
  • Lipid Profile and Its Relationship with Blood
    Onkar Singh et al. Lipid profile and blood glucose levels in MetS National Journal of Physiology, DOI: 10.5455/njppp.2015.5.051120141 NJPPP Pharmacy & Pharmacology http://www.njppp.com/ RESEARCH ARTICLE Correspondence LIPID PROFILE AND ITS RELATIONSHIP Onkar Singh ([email protected]) WITH BLOOD GLUCOSE LEVELS IN Received 27.08.2014 METABOLIC SYNDROME Accepted 09.09.2014 1 1 2 Onkar Singh , Mrityunjay Gupta , Vijay Khajuria Key Words Metabolic Syndrome; 1 Department of Physiology, Government Medical College, Jammu, India Dyslipidemia; Lipid Pattern; 2 Department of Pharmacology, Government Medical College, Jammu, India Type 2 Diabetes Mellitus Background: Metabolic syndrome (MetS) and its associated factors such as dyslipidemia and hyperglycemia are associated with increased risk of cardiovascular disease (CVD). Aims and Objective: To assess lipid profile and its relation with blood glucose levels in patients with MetS. Materials and Methods: This cross-sectional study included 72 male patients with MetS. Anthropometry, lipid profile, blood glucose, and presence of MetS (JIS criteria) were determined. Results: High triglyceride (TG) level (>200 mg/dL, 44.4%) was the most common dyslipidemia followed by low levels of high-density lipoprotein cholesterol (<40 mg/dL, 19.4%). High total cholesterol levels (>240 mg/dL, 13.8%) and high low- density lipoprotein cholesterol levels (>160 mg/dL, 9.7%) were observed. On comparison, no significant differences in lipid levels of MetS patients with normal fasting glucose, impaired fasting glucose, and type 2 diabetes mellitus were observed. Conclusions: Dyslipidemia was frequent in patients with MetS. High TG was the most common lipid abnormality, and a large number of patients had more than one abnormal lipid parameter.
    [Show full text]
  • Community Lab Costs
    Sickle Cell This tests for the genetic trait which may lead to sickle cell anemia. Osteoporosis Screening This uses ultrasound to screen people for low bone density or osteoporosis and is completed by painlessly scanning the heel. Because osteoporosis rarely causes signs or symptoms until it’s advanced, the National Osteoporosis Foundation recommends a bone density test if you are: • A woman older than age 65 or a man older than age 70 • A postmenopausal woman with at least one risk factor for osteoporosis Community Lab Costs • A man between age 50 and 70 who has at least one osteoporosis (greatly reduced rates) risk factor • Older than age 50 with a history of a broken bone • Taking medications, such as prednisone, aromatase inhibitors or Wellness Panel........................................................................ $20 Fasting anti-seizure drugs, that are associated with osteoporosis Includes screening for glucose, electrolytes, kidney, liver and • A postmenopausal woman who has recently stopped taking thyroid, plus complete blood count and lipid profile hormone therapy • A woman who experienced early menopause Diabetic Screening (A1c)...................................................... $5 The results of this test will indicate if you have or at risk for osteoporosis. Sickle Cell................................................................................ $6 If so, your doctor can offer treatment. PSA (Prostate Screening)...................................................... $8 Breathing Test This measures airflow and lung
    [Show full text]
  • Reducing the Burden of Disease and Death from Familial Hypercholesterolemia: a Call to Action Joshua W
    Editorial Reducing the burden of disease and death from familial hypercholesterolemia: A call to action Joshua W. Knowles, MD, PhD, a,b Emily C. O’Brien, PhD, c Karen Greendale, MA, CGC, b Katherine Wilemon, BS, b Jacques Genest, MD, d Laurence S. Sperling, MD, e William A. Neal, MD, f Daniel J. Rader, MD, g and Muin J. Khoury, MD, PhD h Stanford, South Pasadena, CA; Durham, NC; Montreal, Canada; Atlanta, GA; Morgantown, WV; and Philadelphia, PA Familial hypercholesterolemia (FH) is a genetic disease characterized by substantial elevations of low-density lipoprotein cholesterol, unrelated to diet or lifestyle. Untreated FH patients have 20 times the risk of developing coronary artery disease, compared with the general population. Estimates indicate that as many as 1 in 500 people of all ethnicities and 1 in 250 people of Northern European descent may have FH; nevertheless, the condition remains largely undiagnosed. In the United States alone, perhaps as little as 1% of FH patients have been diagnosed. Consequently, there are potentially millions of children and adults worldwide who are unaware that they have a life-threatening condition. In countries like the Netherlands, the United Kingdom, and Spain, cascade screening programs have led to dramatic improvements in FH case identification. Given that there are currently no systematic approaches in the United States to identify FH patients or affected relatives, the patient-centric nonprofit FH Foundation convened a national FH Summit in 2013, where participants issued a “call to action” to health care providers, professional organizations, public health programs, patient advocacy groups, and FH experts, in order to bring greater attention to this potentially deadly, but (with proper diagnosis) eminently treatable, condition.
    [Show full text]
  • Commonly Used Lipidcentric ICD-10 (ICD-9) Codes
    Commonly Used Lipidcentric ICD-10 (ICD-9) Codes *This is not an all inclusive list of ICD-10 codes R.LaForge 11/2015 E78.0 (272.0) Pure hypercholesterolemia E78.3 (272.3) Hyperchylomicronemia (Group A) (Group D) Familial hypercholesterolemia Grütz syndrome Fredrickson Type IIa Chylomicronemia (fasting) (with hyperlipoproteinemia hyperprebetalipoproteinemia) Hyperbetalipoproteinemia Fredrickson type I or V Hyperlipidemia, Group A hyperlipoproteinemia Low-density-lipoid-type [LDL] Lipemia hyperlipoproteinemia Mixed hyperglyceridemia E78.4 (272.4) Other hyperlipidemia E78.1 (272.1) Pure hyperglyceridemia Type 1 Diabetes Mellitus (DM) with (Group B) hyperlipidemia Elevated fasting triglycerides Type 1 DM w diabetic hyperlipidemia Endogenous hyperglyceridemia Familial hyperalphalipoproteinemia Fredrickson Type IV Hyperalphalipoproteinemia, familial hyperlipoproteinemia Hyperlipidemia due to type 1 DM Hyperlipidemia, Group B Hyperprebetalipoproteinemia Hypertriglyceridemia, essential E78.5 (272.5) Hyperlipidemia, unspecified Very-low-density-lipoid-type [VLDL] Complex dyslipidemia hyperlipoproteinemia Elevated fasting lipid profile Elevated lipid profile fasting Hyperlipidemia E78.2 (272.2) Mixed hyperlipidemia (Group C) Hyperlipidemia (high blood fats) Broad- or floating-betalipoproteinemia Hyperlipidemia due to steroid Combined hyperlipidemia NOS Hyperlipidemia due to type 2 diabetes Elevated cholesterol with elevated mellitus triglycerides NEC Fredrickson Type IIb or III hyperlipoproteinemia with E78.6 (272.6)
    [Show full text]
  • Lipid Profile Abnormalities Seen in T2DM Patients in Primary Healthcare in Turkey: a Cross-Sectional Study Aclan Ozder
    Ozder Lipids in Health and Disease 2014, 13:183 http://www.lipidworld.com/content/13/1/183 RESEARCH Open Access Lipid profile abnormalities seen in T2DM patients in primary healthcare in Turkey: a cross-sectional study Aclan Ozder Abstract Background: Diabetes is characterized by chronic hyperglycemia and disturbances of carbohydrate, lipid and protein metabolism. We aimed to research association between serum lipid profile and blood glucose, hypothesizing that early detection and treatment of lipid abnormalities can minimize the risk for atherogenic cardiovascular disorder and cerebrovascular accident in patients with type 2 diabetes mellitus. Methods: Fasting blood glucose (FBG), total cholesterol (TC), high density lipoprotein (HDL), low density lipoprotein (LDL), triglyceride (TG) and glycated haemoglobin (HbA1c) levels were evaluated. A hepatic ultrasound was performed for every diabetic to evaluate hepatosteatosis. The study was done from January 2014 to June 2014 among 132 patients with T2DM who were admitted to outpatient clinic of Family Medicine department in a university hospital. The patients whose taking multi-vitamin supplementation or having hepatic, renal or metabolic bone disorders (including parathyroid related problems) were excluded from the study for the reason that those conditions might affect the carbohydrate and lipid metabolism in diabetes. Test of significance was calculated by unpaired student’s t test between cases and controls. Correlation studies (Pearson’s correlation) were performed between the variables of blood glucose and serum lipid profile. Significance was set at p<0.05. Results: Results of serum lipid profile showed that the mean values for TC, TG, HDL and LDL in female patients were 227.6 ± 57.7 mg/dl, 221.6 ± 101.1 mg/dl, 31.5 ± 6.7 mg/dl and 136.5 ± 43.7 mg/dl, respectively.
    [Show full text]
  • Ldl Familial Hypercholesterolemia
    WHAT IS FAMILIAL HYPERCHOLESTEROLEMIA (FH)? FH is a common condition in which the body is unable to process its natural supply of cholesterol. This inherited illness is due to one or, more rarely, two abnormal chromosomes, which make the liver ineffective at transporting cholesterol in the body. High levels of “bad” cholesterol (low-density lipoprotein-cholesterol or LDL-C) can block arteries and lead to a heart attack or stroke if left untreated.1 THINGS YOU NEED TO KNOW ABOUT FAMILIAL HYPERCHOLESTEROLEMIA WHO IS AFFECTED? IS CHOLESTEROL BAD? FH affects an estimatedone in 300 to one Not in itself, but too much of it can be dangerous for your 2 health. Cholesterol plays an important role in the body as it . in 500 people worldwide helps make the outer coating of cells; is necessary for bile acids that help digest food; and allows the body to make Up to 80% of affected people Vitamin D and hormones. HDL (high-density lipoproteins) in most countries and LDL move cholesterol to the parts of your body that remain undiagnosed need it, however, too much LDL in your bloodstream leads throughout the world.2 to excess cholesterol being deposited in your arteries, which can cause plaques and lead to heart disease.1 If left untreated: • the risk of developing early heart disease is 3 20 times greater than in the general population; • men have a 50% risk for a coronary event by the age of 50; 4 women a 30% risk by the age of 60. LDL cholesterol LIVING WITH FH CAN FH BE TREATED? Yes, there are several types of treatments including CLICK ON PHOTO TO “statins”, cholesterol absorption inhibitors, bile acid ACCESS VIDEO sequestrants and PCSK9 inhibitors.
    [Show full text]
  • Lipid Guidelines 2018: Updates from ACC/AHA Guidelines 2013
    Lipid Guidelines 2018: Updates from ACC/AHA Guidelines 2013 Allen Adolphe M.D., Ph.D. FACP Professor and Vice Chief General Internal Medicine, University of New Mexico Objectives and Disclosures • Disclosures: NIH GRADE Study; Pharmaceutical Trials, none active now • Objectives – Know the four categories of high CVD risk from the ACC/AHA 2013 Lipid Guidelines (ATP IV) – Know what the major philosophical change between ATP III and ATP IV – Know what the ACC Expert Consensus Decision Pathway is and what changes in the ACC/AHA guidelines are suggested ATP IV: a little more abstract ATP III ATP IV • RISK FACTOR COUNTING • THERE IS NO TARGET • TREAT TO LDL GOAL • THE OF • ADDRESS NON-HDL TARGET INTENSITY STATIN THERAPY IS THE FOCUS OF TREATMENT ATP-IV (ACC-AHA 2013 Guidelines) • How many of you have adopted the ATP IV guidelines in your lipid practice by reducing the LDL-C by >50% for those at high risk of CVD? • How many of you believe that if the LDL-C too low it will place patients at risk for adverse effects? • How many of you treat patient with Familial Hyperlipidemia? A Comparative Analysis of Current Lipid Treatment Guidelines RISK ESTIMATORS • Risk estimators are derived from large studies in the United States or Europe. All include age, sex, total cholesterol, HDL-C, and systolic blood pressure as predictors. • However, ethnicity, treatment for hypertension, diabetes, and smoking status are only included in some; thus, patient risk may vary with different estimators. Outcomes are different between risk estimators • Outcome for the FRS is the most inclusive, predicting 10-year risk of coronary heart disease, cerebrovascular events, peripheral artery disease, or heart failure.
    [Show full text]
  • Screening for Lipid Disorder: Systematic Evidence Review
    On December 6, 1999, under Public Law 106-129, the Agency for Health Care Policy Research (AHCPR) was reauthorized and renamed the Agency for Healthcare Research and Quality(AHRQ). The law authorizes AHRQ to continue its research on the cost, quality, and outcomes of health care, and expands its role to improve patient safety and address medical errors. This report may be used, in whole or in part, as the basis for development of clinical practice guidelines and other quality enhancement tools, or a basis for reimbursement and coverage policies. AHRQ or U.S. Department of Health and Human Services endorsement of such derivative products may not be stated or implied. Systematic Evidence Review Number 4 Screening for Lipid Disorders Prepared for: Agency for Healthcare Research and Quality U.S. Department of Health and Human Services 2101 East Jefferson Street Rockville, MD 20852 http://www.ahrq.gov Contract No. 290-97-0011 Task Order No. 3 Technical Support of the U.S. Preventive Services Task Force Prepared by: Research Triangle Institute University of North Carolina Evidence-based Practice Center Michael P. Pignone, M.D., M.P.H. Christopher J. Phillips, M.D., M.P.H. Carole M. Lannon, M.D., M.P.H. Cynthia D. Mulrow, M.D., M.Sc. Steven M. Teutsch, M.D., M.P.H. Kathleen N. Lohr, Ph.D. B. Lynn Whitener, Dr.P.H., M.S.L.S. AHRQ Publication No. 01-S004 April 2001 The authors of this report are responsible for its content. Statements in the report should not be construed as endorsement by the Agency for Healthcare Research and Quality or the U.S.
    [Show full text]