40(3):486-94. 2500032-overview [30, 31], A small study in 2004 involving the CETP inhibitor torcetrapib showed that the drug markedly increased HDL levels and decreased LDL levels when taken alone and also when taken in combination with a statin. 8th ed. Rapid change in plaque size, composition, and molecular footprint after recombinant apolipoprotein A-I Milano (ETC-216) administration: magnetic resonance imaging study in an experimental model of atherosclerosis. N Engl J Med. High-density lipoproteins as an emerging therapeutic target for atherosclerosis. Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with ... (HDL).2 It is believed that newly formed CE accumulates in ... cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement [Medline]. [39]. New York, NY: McGraw-Hill; 1982. J Am Coll Cardiol. [Medline]. The document also reported that there are several causes of low HDL cholesterol levels and that a number of these—including type II diabetes, overweight, obesity, elevated triglycerides (TGs), and a lack of physical activity—are associated with insulin resistance. It is not known whether FHA is a discrete genetic disorder. Abnormal dilatation of the Golgi cisternae speaks to a disruption of intracellular lipid trafficking through vesicular budding, with abnormal ceramide and glycerophospholipid turnover.71,92, Ken-ichi Hirano, ... Yuji Matsuzawa, in Encyclopedia of Endocrine Diseases, 2004. These cells have abnormal actin cytoskeletons in association with decreased expression of Cdc42, a member of the RhoGTPases family. 2015 Dec. 1-8. Torcetrapib was looked at in a phase 3 global study called the Investigation of Lipid level management to Understand its iMpact IN ATherosclerotic Events (ILLUMINATE) trial. 35(3):640-6. 2007 Nov 22. Looking for familial high-density lipoprotein (HDL) deficiency? 2002 An apo A-I mimetic peptide under development, D-4F, is targeted not at raising HDL but at changing pro-inflammatory HDL into anti-inflammatory HDL in high-risk patients. Available at http://www.medscape.com/viewarticle/863880. Sum P. Lee, Rahul Kuver, in Physiology of the Gastrointestinal Tract (Fourth Edition), 2006. Carbohydrates (complex carbohydrates from grains, whole grains, fruits, and vegetables) should constitute 50-60% of total energy intake. Effect of recombinant ApoA-I Milano on coronary atherosclerosis in patients with acute coronary syndromes: a randomized controlled trial. 74(12):585-94. [Medline]. In addition, a significant decrease in LDL (42% vs 34%; P< 0.001) and significant improvements in TGs, lipoprotein(a), apo A-I, and apo B were seen in those patients receiving niacin/lovastatin (no longer on U.S. market). May 2001. Statins do have modest affects on HDL, increasing concentrations by 5% to 10%, providing a secondary benefit to this therapy beyond LDL reduction. 2016 May. According to the ATP III, if a patient's TG levels are below 200 mg/dL (isolated low HDL cholesterol), the administration of drugs that increase HDL (fibrates or nicotinic acid) can be considered. Dietary management should follow the NCEP guidelines for lowering frequently associated low-density lipoprotein (LDL) cholesterol, which is the primary target in lipid management Furthermore, currently available drugs do not robustly raise HDL cholesterol." Familial lipoprotein lipase (LPL) deficiency usually presents in childhood and is characterized by very severe hypertriglyceridemia with episodes of abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly. 1988 Aug. 41(2):176-81. Am J Clin Nutr. Cardiosource: American College of Cardiology. Patients should consume 20-30 g/d of fiber. Metabolic syndrome is the second target. Am J Hum Genet. Genetic and biochemical profile of 10 families]. [Medline]. Yamakawa-Kobayashi K, Yanagi H, Fukayama H, et al. Treatment of Tangier Disease. N Engl J Med. Daum U, Leren TP, Langer C, et al. In ATP III, low HDL cholesterol is defined categorically as a level < 40 mg/dL, a change from the level of < 35 mg/dL in ATP II [1993]. Because an increase in the consumption of cold-water fish (eg, salmon) rich in polyunsaturated fats may help to raise HDL, fish oil capsules (capsules containing omega-3 … They are most effective in the setting of concomitant hypertriglyceridemia. Role of LCAT in HDL remodeling: investigation of LCAT deficiency states. Identify and correct secondary factors. JAMA. 197(1):283-9. Familial HDL deficiency is a rare genetic condition that causes low levels of … [35] Results of HRT in primary prevention await completion of the Women's Health Initiative in 2007. Additionally, adding niacin to statins increased risk for serious adverse events. ABCA1 was expressed on the basolateral plasma membrane of polarized cultured gallbladder epithelial cells. 2017. 290(17):2322-4. Rader DJ, deGoma EM. CETP helps to exchange cholesterol between lipoproteins and can transfer it from HDL to LDL and VLDL. They are not recommended for this purpose alone. Benefits of fish oil supplementation in hyperlipidemia: a systematic review and meta-analysis. Another pharmacologic approach geared towards raising HDL levels involves inhibiting cholesteryl ester transfer protein (CETP). A trial by Roche Pharmaceuticals using an agent similar to torcetrapib is underway. In the ARterial Biology for the Investigation of the Treatment Effects of Reducing Cholesterol (ARBITER 2) study, a double-blind, placebo-controlled trial was performed on an extended-release niacin/statin therapy. Identify patients whose diet is very low in fat. Arterioscler Thromb Vasc Biol. This disorder is caused by mutations in the ABCA1 gene, which is located on the long arm of chromosome 9. Circulation 101, 2446–2448. [Medline]. POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease. [Full Text]. Methods: rhLCAT (ACP-501) was infused intravenously over 1 hour on 3 occasions in a dose optimization phase (0.3, 3.0, and 9.0 mg/kg), then 3.0 or 9.0 mg/kg every 1 to 2 weeks for 7 months in a maintenance phase. [Full Text]. If you are visiting our English version, and want to see definitions of Familial HDL Deficiency in other languages, please click the language menu on the right bottom. In the ADvicor Versus Other Cholesterol-Modulating Agents Trial Evaluation (ADVOCATE), 315 patients with high LDL (≥160 mg/dL without CAD, or ≥130 mg/dL with CAD) and low HDL (< 45 mg/dL in men, and < 50 mg/dL in women) were randomized to 16 weeks of a combination of niacin/lovastatin versus standard doses of atorvastatin or simvastatin. Familial hypoalphalipoproteinemias. 2002 May 7. Reproduced with permission from Komuro, R., et al. 69(6):1144-50. Yoram Shenker, MD is a member of the following medical societies: American Heart Association, Central Society for Clinical and Translational Research, Endocrine SocietyDisclosure: Nothing to disclose. 2011 Feb. 102(2):229-31. Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) is a rare congenital cholestatic liver disease that progresses to end stage liver disease. According to the ATP III executive summary, "After the LDL goal has been reached, emphasis shifts to weight reduction and increased physical activity (when the metabolic syndrome is present)." The apo A-1 deficiency states are due to rare deletions, rearrangements, or point mutations within the apo A-I/C-III/A-IV gene complex. 2000. Third Report of the Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATP III Final Report). 66 (20):2201-10. Total fat intake, therefore, should be in the range of 25-35% of total energy intake. Brites FD, Bonavita CD, De Geitere C, et al. J Am Coll Cardiol. ABCA1 is expressed throughout the body and mediates apoA-I-mediated cholesterol efflux at the plasma membrane. 2003. 2008 Feb. 388(1-2):78-83. Human HDL deficiency (hypoalphalipoproteinemia) defines a group of dyslipidemias characterized by an HDL cholesterol level below the 10th percentile for age- and sex-matched subjects. 8th ed. Next-generation anti-CD20 monoclonal antibodies in autoimmune disease treatment. Copyright © 2020 Elsevier B.V. or its licensors or contributors. These patients cannot form HDL, and therefore have a defect in reverse cholesterol transport, whereby cholesterol is mobilized from peripheral sites and returned to the liver. Treatment for isolated low HDL cholesterol is provided mainly to patients with CHD and CHD risk equivalents. [Medline]. Furthermore, a close correlation was found between the ex … By continuing you agree to the use of cookies. Niacin/lovastatin increased HDL significantly more than did statin alone at all dose combinations (P< 0.001). 2003 Feb 1. Several patients have had recurrent peripheral neuropathy. [Full Text]. Mutations in the APOA1 gene cause familial HDL deficiency, an inherited condition characterized by low levels of HDL in the blood and an elevated risk for early-onset cardiovascular disease, which often occurs before age 50. BACKGROUND. [Hypoalphalipoproteinemia and atherosclerosis. van den Bogaard B, Holleboom AG, Duivenvoorden R, Hutten BA, Kastelein JJ, Hovingh GK, et al. Treatment of Tangier disease has proven to be an elusive problem. Clin Chim Acta. 74(44):2659-64. The disorder results from homozygous mutations in the ATP-binding cassette (ABC1) transport protein, which mediates the efflux of cellular cholesterol to the HDL particle in plasma for transport to the liver.97,98 Triglyceride levels may be normal or slightly elevated (150–250 mg/dL) and plasma ApoA-I levels are <3% of normal. 8:357-61. 9 (3):206-12. [Full Text]. Barter PJ, Brewer HB Jr, Chapman MJ, et al. 2017. Cholesterol Efflux Capacity and Pre-Beta-1 HDL Concentrations Are Increased in Dyslipidemic Patients Treated With Evacetrapib. Singh VN. Atherosclerosis. Barter PJ, Caulfield M, Eriksson M, et al. [Medline]. Ordovas, in Encyclopedia of Human Nutrition (Third Edition), 2013. In a study, ETC-216, a recombinant form of apo A-I Milano–phospholipid complex, was found to be effective in reducing coronary atheroma volume as measured by intravascular ultrasonography. [Medline]. A low HDL cholesterol level in this setting is rarely associated with an increased risk for premature CHD. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of … [Medline]. 290(17):2292-300. 484, 275–279. Blocking CETP prevents the transfer of cholesterol from HDL2 to the apo B–containing lipoproteins, and therefore, the HDL concentration in terms of cholesterol rises. Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23. Is Isolated Low High-Density Lipoprotein Cholesterol a Cardiovascular Disease Risk Factor? JAMA. Familial HDL deficiency is a rare genetic condition that causes low levels of "good" cholesterol (HDL) in the blood. It is unclear whether pharmacologic agents should be used to raise the HDL cholesterol level in otherwise healthy persons, because no published clinical trials are available that demonstrate a benefit. The heterozygous parents have about half normal levels of HDL-C. Homozygotes of Tangier disease show a marked increase in the fractional catabolic rate of HDL proteins such as apoA-I, whereas heterozygotes also demonstrate enhanced clearance. The study's results should be available within a few years. Plasma lipoproteins, lipids, LCAT levels, and several measures of renal function and other clinical labs were monitored. [Medline]. [Medline]. The Seattle Hypertriglyceridemia Study conducted at the same time with hypertriglyceridemic probands, who did not have clinical atherosclerosis, found no evidence for premature CAD in the FHTG families.110 This was confirmed by a 20-year follow-up study.19 It also is possible that the families termed FHTG in the NHLBI Family Heart Study111 actually had FHA. [Medline]. The apo A-1 deficiency states are due to rare deletions, rearrangements, or point mutations within the apo A-I/C-III/A-IV gene complex. Nonetheless, the treatment strategies appear to be well suited for this subpopulation, which has a high prevalence of HA. This finding of a low high-density lipoprotein (HDL) cholesterol level can be useful as an independent factor in assessing coronary artery disease (CAD) risk and further management. By the study's termination, the torcetrapib group demonstrated a 25% elevation in risk over the patients who received only atorvastatin (hazard ratio [HR], 1.25; 95% confidence interval [CI], 1.09-1.44; P = .001). J Lipid Res. J Clin Invest. [40] In this investigation, LDL levels fell by 42% (P< 0.001) and HDL levels increased by 26% (P< 0.001). The ATP III reported, "When a low HDL cholesterol is associated with high triglycerides (200-499 mg/dL), secondary priority goes to achieving the non-HDL cholesterol goal." Minerva Med. FEBS Lett. The investigation showed that the atherosclerosis in the coronary vessel wall could be modified in a much shorter time than anticipated, ie, within 5-6 weeks. Please confirm that you would like to log out of Medscape. [The relationship between high-density lipoproteins, thromboxane B2 and arteriosclerosis in a case of primary hypoalphalipoproteinemia]. Multiple dysfunctions of two apolipoprotein A-I variants, apoA- I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers. JAMA. Humans with familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) have extremely low or undetectable HDL-C levels and by early adulthood develop many manifestations of the disorder, including corneal opacities, anemia, and renal disease. People in the study had a protein in their HDL, the aforementioned apo A-I Milano, that seemed to be better at stimulating the removal of cholesterol from plaques than was HDL containing the normal protein, called apo A-I. Association of high-density lipoprotein cholesterol with incident cardiovascular events in women, by low-density lipoprotein cholesterol and apolipoprotein b100 levels: a cohort study. Corneal opacities, anemia, proteinuria, renal insufficiency, Corneal opacities, enlarged orange tonsils, hepatosplenomegaly, peripheral neuropathy. Statins have only a modest effect. In Tangier disease, cholesterol-laden macrophages are found in various tissues such as liver, spleen, bone marrow, tonsils, nerves, smooth muscle cells, arterial wall, and β cells. Bartlett J, Predazzi IM, Williams SM, Bush WS, Kim Y, Havas S, et al. 1986 Nov 7. 105(18):2159-65. Familial HALP - Familial HALP includes CETP deficiency, familial hepatic lipase deficiency, and primary HALP. http://www.medscape.com/viewarticle/863880. [Full Text]. The 2 drugs differ in chemical structure. While these drugs are useful for patients with hyperlipidemia , Tangier's disease patients do not benefit from these pharmaceutical interventions. Hulley S, Grady D, Bush T, et al. Role of the estrogen and progestin in hormonal replacement therapy on apolipoprotein A-I kinetics in postmenopausal women. The kinetic parameters (turnover) of HDL apo AI and apo All were studied in six lean patients with primary HDL deficiency associated with familial hypertriglyc eridemia and normolipidemic healthy controls. Uehara Y, Tsuboi Y, Zhang B, et al. The statin/niacin combination also resulted in a 60-90% reduction in the incidence of major coronary events. Circulation 101, 2446–2448. Plasma apo AI concentration is extremely low, with a relative increase in precursors of apo AI. Comparison of lovastatin and gemfibrozil in normolipidemic patients with hypoalphalipoproteinemia. In such patients, a secondary goal is set for non–HDL-C (total cholesterol minus HDL-C). Low HDL cholesterol is commonly seen with premature CAD and has been proposed to be related, in part, to mutations in proteins of HDL metabolism (see Chapter 7). Familial LCAT deficiency represents a disorder that is characterized by abnormalities in the levels of several different blood lipids that includes decreased levels of LDL, HDL, apoA-I, and apoA-II along with increased levels of free cholesterol, apoE, and triglycerides. DeLong DM, DeLong ER, Wood PD, et al. Papers overview. Broader (2) Hypoalphalipoproteinemia, Familial Hypoalphalipoproteinemias. Fast Five Quiz: Lipids Management: High HDL Cholesterol Levels (Hyperalphalipoproteinemia), Trending Clinical Topic: New Lipid Guidelines. One year old twin males born to a mother with intrahepatic cholestasis during … [3, 4, 5, 6, 29], The basic purpose of the management of HA and related lipid abnormalities is to reduce the risk of atherosclerosis, which is the main mechanism of increased morbidity and mortality. In order to maintain a desirable body weight and to prevent weight gain, the total amount of energy consumed must be balanced in terms of energy intake and expenditure. 1998 Aug 19. Overall, fibrates reduce the risk for major coronary events by 25%, whereas currently available data for niacin suggest about a 27% reduction. Statins lower total cholesterol and represent the most efficacious way to lower the ratio of total cholesterol to HDL-C. Statins decrease clinical events in patients with low HDL-C.151 As noted earlier, pharmacologic therapies for raising HDL levels, notably niacin and inhibition of CETP, have not yet shown efficacy in cardiovascular outcome trials. The NCEP Adult Treatment Panel III guidelines advise additional treatment of low HDL-C in patients who are at their goal for LDL-C and have triglyceride levels greater than 2.25 mmol/L (200 mg/dL). A stepwise regression analysis showed V771M, I883M, and E1172D as the most important predictors of CHD. Tall AR. Circ Cardiovasc Qual Outcomes. Heart and Estrogen/progestin Replacement Study (HERS) Research Group. 2015 Nov 17. 2011 Dec 15. Scriver CR, Sly WS, Childs B, et al, eds. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50. N Engl J Med. If you log out, you will be required to enter your username and password the next time you visit. [Medline]. Reproduced with permission from Komuro, R., et al. [Medline]. The disorder frequently manifests during childhood. With regard to HA, the ATP III report stated, "Low HDL cholesterol is a strong independent predictor of CHD [coronary heart disease]. Circulation. Niacin in patients with low HDL cholesterol levels receiving intensive statin therapy. Most patients who receive niacin also have high LDL cholesterol levels that are being managed pharmacologically, and niacin is added to raise their HDL cholesterol level if it is low. [Medline]. This is, ... that have been shown to increase circulating levels of HDL, ... Familial LCAT Deficiency: FLD (Fish Eye Disease) Lipoprotein(a) and Atherogenesis; HDL levels in the combination group rose 21% higher (P = 0.002) than they did in the statin-only group, and TGs decreased significantly (P = 0.009). Singh VN. 1989 Jan-Feb. 59(1):9-18. Rader DJ. [Full Text]. New Insights From the Framingham Offspring Study. Low HDL levels often reflect a genetic abnormality, although they can also be pushed downward by a high blood level of TGs or by cigarette smoking, inactivity, or hypertension, as well as by a diet very high in carbohydrates or polyunsaturated fats. is rare and may be due to Tangier disease, apo A-I deficiencies, LCAT deficiency, or fish-eye disease. Shizuya Yamashita, Yuji Matsuzawa, in Encyclopedia of Endocrine Diseases (Second Edition), 2018. In some patients with FHD who do not show the typical Tangier phenotype, such as orange tonsils and hepatosplenomegaly, this is also reported to be associated with mutations in the ABCA1 gene. [Full Text]. We use cookies to help provide and enhance our service and tailor content and ads. Jul 21, 2005. series 1(9):[Full Text]. [41] One group of patients received the combination therapy, while another group received only statin. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver ... 1 More on Familial HDL deficiency » Refer patients who may possibly have one of these diagnoses to a specialized lipid center for advanced management. HPS2-THRIVE Collaborative Group, Landray MJ, Haynes R, Hopewell JC, Parish S, Aung T, et al. [Medline]. The glitazones, which are PPAR (peroxisome proliferator-activated receptor) agonists, act by lowering free fatty acid (FFA) and TG levels and by raising HDL. 2016 Apr 15. Scriver CR, Sly WS, Childs B, et al, eds. NCHS Data Brief. Dioguardi N. [Familial hypoalphalipoproteinemia. Several novel approaches to increasing HDL cholesterol that have been under investigation include the following: The aforementioned partial CETP inhibitor, torcetrapib, may increase HDL by as much as 46%. Mott S, Yu L, Marcil M, et al. [Medline]. Chien KL, Chen MF, Hsu HC, et al. The USDA "Food Pyramid" needs to go on a diet. Total and High-density Lipoprotein Cholesterol in Adults: United States, 2011-2014. Metabolic syndrome is diagnosed in patients with at least 3 of the following risk factors: Abdominal obesity, with a waist circumference of over 35 inches (females) or above 40 inches (males), HDL cholesterol levels of below 40 mg/dL (males) or less than 50 mg/dL (females), Blood pressure at or above 130 mm Hg systolic and greater than or equal to 85 mm Hg diastolic, Fasting glucose levels at or above 110 mg/dL. 262(22):3148-53. New ATP III lipid guidelines update for patients at high risk for cardiovascular events. An association between low HDL and hypertriglyceridemia requires attention. Hdl deficiency, familial symptoms, causes, diagnosis, and treatment information for Hdl deficiency, familial (Familial HDL deficiency) with alternative diagnoses, full-text book chapters, misdiagnosis, research treatments, prevention, and prognosis. Familial Hypoalphalipoproteinemia. Satta MA, Scoppola A, Melina D, et al. [Medline]. Individuals possessing apo Milano were found to have very low levels of HDL and yet, as a group, had a very low prevalence of atherosclerotic disease because most of their HDL was apo A-I Milano. [Medline]. Pinellas County Medical Society (PICOMESO) Journal. This disorder is characterized by a genetic predisposition in subjects consuming high-fat, high-cholesterol diets to an increased secretion of apo B-containing lipoproteins and an increased catabolism of apo A-I-containing lipoproteins. The Lipid Research Clinics Prevalence Study. Gemfibrozil, nicotinic acid and combination therapy in patients with isolated hypoalphalipoproteinemia: a randomized, open-label, crossover study. Red mucosa gebauer SK, Destaillats F, Krauss RM, Baer DJ low-density! ; Accessed: November 3, 2016 benefit from these pharmaceutical interventions methods for the blood, Wyngaarden JB Wyngaarden! 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