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Hyperlipoproteinemia Type 2b

Hyperlipoproteinemia Type IIb


Presentation

  • The material presented has been obtained from several textbooks on biochemistry and from a variety of recent articles in the scientific literature.[books.google.com]
  • Lippincott Williams & Wilkins, ٢٨‏/٠٣‏/٢٠١٢ - 832 من الصفحات Now in its Fourth Edition, this Spiral Manual presents clinical information and protocols in outline format for evaluation and treatment of most endocrine disorders in children, adolescents,[books.google.com]
  • […] with corneal arcus, tendinous xanthomas, and xanthelasma treatment: STATINS - present in childhood - LDL levels of 400 mg/dL - premature symptomatic CHD - LDL-C levels less affected by env'tal factors - symptomatic aortic stenosis due to valvular and[quizlet.com]
  • Clinical Signs and Symptoms  Individuals with FCS often present with abdominal pain, repetitive colicky pains, and repetitive episodes of pancreatitis.[slideshare.net]
  • […] clinically normal, and they frequently (but not always) present with low HDL-C levels Tangier Disease-Absence of ABCA1 autosomal recessive disorder due to loss-of-function mutations in the ABCA1 Clinical presentation of Tangier disease varies considerably[brainscape.com]
Coronary Artery Disease
  • Risk factors include a family history of high cholesterol and early coronary artery disease. In the early years, there may be no symptoms.[medlineplus.gov]
  • Too much of this type of fat may raise the risk of coronary artery disease, especially in women. A blood test measures your triglycerides along with your cholesterol. Normal triglyceride levels are below 150. Levels above 200 are high.[medicbind.com]
  • They have an increased risk of early coronary artery disease and heart attacks. Those with familial combined hyperlipidemia have a higher rate of obesity and glucose intolerance. 21.[slideshare.net]
  • Assmann G and Schulte H (1992) Relation of high-density lipoprotein cholesterol and triglycerides to incidence of atherosclerotic coronary artery disease (the PROCAM experience). Prospective Cardiovascular Munster study .[nature.com]
Italian
  • 10060598 L6001389preferred S6883818 N Iperlipoproteinemia di Fredrickson Tipo IIb ItalianMedDRA Italian 10017345 L6001389preferred S6883818 Y Iperlipoproteinemia di Fredrickson Tipo IIb ItalianMedDRA Italian 10045264 L6001393no S6883820 N Iperlipoproteinemia[doctor.am]
Chest Pain
  • Chest pain or pressure or shortness of breath should be reported to a healthcare provider right away. This may be a sign of a heart attack. Attribution Author: Evan M.[medicineonline.com]
  • Complications may include: Early atherosclerotic heart disease Heart attack Stroke Seek medical care right away if you have chest pain or other warning signs of a heart attack.[medlineplus.gov]
  • Symptoms :  Chest pain (angina) may occur. However, there may not be any physical symptoms.  Persons with this condition develop high cholesterol or triglyceride levels during the teenage years. The levels remain high throughout life.[slideshare.net]
Flushing
  • Specific side effects vary by the medication, but may include: constipation with bile acid resins, such as cholestyramine and colestipol flushing, itching, and increased blood sugar with niacin muscle aches with statin drugs, such as atorvastatin, fluvastatin[medicineonline.com]
Suggestibility
  • In many patients these goals could not be met suggesting that multiple drug therapy may be indicated in part of the patients with type 2b hyperlipoproteinemia.[ncbi.nlm.nih.gov]
  • ., the effect is due to the power of suggestion. Prediabetic State The time period before the development of symptomatic diabetes.[bioportfolio.com]

Workup

Hypertriglyceridemia
  • (mild) Familial multiple lipoprotein-type hyperlipidemia Sporadic hypertriglyceridemia Tangier Disease Type V Familial hypertriglyceridemia (severe) Familial lipoprotein lipase deficiency C-II Apolipoprotein lipase deficiency ------------------------[esl.proz.com]
  • , familial combined hyperlipidemia, sporadic hypertriglyceridemia, diabetes N V Creamy top, turbid bottom Chylomicrons, VLDL Diabetes Note that the WHO classification is simply a biochemical phenotypic classification based on which lipoprotein is raised[gpnotebook.co.uk]
  • Hubacek JA et al . (2005) Hypertriglyceridemia: interaction between APOE and APOAV variants . Clin Chem 51 : 1311–1313 39.[nature.com]
  • - part of hyperlipidemia syndromes - isolated hypertriglyceridemia or type 4 hyperlipidemia - autosomal dominant disorder - resents in adulthood with fasting TG 200-250mg/dL - fluffy, TG-rich VLDL - have premature CHD Lipoprotein lipase deficieny - aka[quizlet.com]
  • […] and cardiovascular disease hypertriglyceridemia increases a person's risk for cardiovascular disease (nature of pathogenic lipoprotein is unclear) Major risk of sever hypertriglyceridemia pancreatitis ; may also have eruptive and tuberous xanthomas Familial[brainscape.com]
Cholesterol Increased
  • Regardless of phenotype, lovastatin was more effective in lowering LDL-cholesterol, while gemfibrozil had a greater triglyceride-lowering and HDL-cholesterol-increasing effect.[ncbi.nlm.nih.gov]
  • Tests will show: Increased LDL cholesterol Decreased HDL cholesterol Increased triglycerides Increased apolipoprotein B100 Genetic testing is available for one type of familial combined hyperlipidemia.[medlineplus.gov]

Treatment

  • Early detection and treatment of this disease may delay artery blockage. Treatment & Monitoring What are the treatments for the condition? Anyone with this condition should speak to a healthcare provider about treatment.[medicineonline.com]
  • Helve E, Ojala J-P, Tikkanen MJ (1988) Simvastatin and gemfibrozil in the treatment of primary hypercholesterolemia. J Appl Cardiol 3: 381–388 Google Scholar 6.[link.springer.com]
  • In type 2b hyperlipoproteinemia, more patients taking lovastatin than gemfibrozil reached both treatment goals defined by the European Atherosclerosis Society, (LDL-cholesterol 4.0 mmol/l and triglycerides 2.3 mmol/l).[ncbi.nlm.nih.gov]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.com]
  • This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention.[books.google.com]

Prognosis

  • The overall prognosis for these individuals is in the worst-case scenario if uncontrolled and untreated individuals may die before the age of 20, but if one seeks a prudent diet with correct medical intervention, the individual may see an increased incidence[en.wikipedia.org]

Etiology

  • From More Specific Terms familial combined hyperlipidemia Etiology familial form ( familial combined hyperlipidemia ) defect in LDL receptor Laboratory increase in LDL cholesterol serum triglycerides are increased VLDL is increased apo E genotyping may[anvita.info]
  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.com]
  • Primarily pediatric and young adults 143890 TC LDL Monogenic, heterozygous for m due to mutant LDLR, APOB or PCSK9; Homozygous for m due to mutant LDLR or ARH 144250 TC, TG VLDL, LDL Polygenic, multiple etiologies, some cases due to USF1, APOB or LPL[yumpu.com]
  • Yuan G et al . (2007) Hypertriglyceridemia: its etiology, effects and treatment . CMAJ 176 : 1113–1120 5. MacLean DR et al . (1999) Plasma lipids and lipoprotein reference values, and the prevalence of dyslipoproteinemia in Canadian adults.[nature.com]
  • Hypertriglyceridemia: Its etiology, effects and treatment. CMAJ 2007, Apr 10;176(8):1113-20. Papadakis EP, Sarigianni M, Mikhailidis DP, Mamopoulos A, Karagiannis V. Acute pancreatitis in pregnancy: An overview.[nanbyou.or.jp]

Epidemiology

  • JPN guidelines for the management of acute pancreatitis: Epidemiology, etiology, natural history, and outcome predictors in acute pancreatitis. J Hepatobiliary Pancreat Surg 2006;13(1):10-24. Kumar J, Wierzbicki AS. Images in clinical medicine.[nanbyou.or.jp]
Sex distribution
Age distribution

Prevention

  • Prevention & Expectations What can be done to prevent the condition? An inherited condition cannot be prevented once a person is born. Genetic counseling may be helpful to couples with a family history of the disease.[medicineonline.com]
  • This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention.[books.google.com]
  • Frick MH, Elo O, Haapa K, Heinonen OP, Heinsalmi P, Helo P, Huttunen JK, Kaitaniemi P, Koskinen P, Manninen V, Mäenpää H, Mälkönen M, Mänttäri M, Norola S, Pasternack A, Pikkarainen J, Romo M, Sjöblom T, Nikkilä EA (1987) Helsinki Heart Study: Primary-prevention[link.springer.com]
  • Preventive Services Task Force". Annals of Internal Medicine. 165 (8): 560–564. doi : 10.7326/M16-0946. PMID 27538032. US Preventive Services Task Force (9 August 2016).[en.wikipedia.org]
  • […] non-atherogenic - deficiency of the activating cofactor for LPL - presents similarly to LPL deficiency treatment: - plasma transfusion - providing apoC-II - interferes with the activity of LPL - competitively binds to the carboxy-terminal portion of apoB - prevention[quizlet.com]

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