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Familial dysbetalipoproteinemia

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90: 195: 182:. Individuals with two copies of the ApoE2 gene have substantially elevated risk of this condition. This defect prevents the normal metabolism of chylomicrons, IDL and VLDL, otherwise known as remnants, and therefore leads to accumulation of cholesterol within scavenger cells (macrophages) to enhance development and acceleration of atherosclerosis. 62: 320:
Genest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Bonow RO, Mann DL, Zipes DP, Libby P, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 9th ed. Philadelphia, PA:Saunders Elsevier; 2011:chap
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Familial dysbetalipoproteinemia is caused by this point mutation in ApoE
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Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
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is a condition characterized by increased total cholesterol and
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James, William D.; Berger, Timothy G.; et al. (2006).
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over the elbows and knees. The disease leads to premature
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Skin conditions resulting from errors in metabolism
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Andrews' Diseases of the Skin: clinical Dermatology
146:or stroke in young adults or middle aged patients. 73: 37: 32: 122:(orange or yellow discoloration of the palms) and 154:This condition is more likely when a mutation in 554:Lecithin cholesterol acyltransferase deficiency 446: 118:Signs of familial dysbetaproteinemia include 8: 541: 500:Familial apoprotein CII deficiency/Type Ib 453: 439: 431: 361: 266: 264: 88: 60: 29: 515:Familial dysbetalipoproteinemia/Type III 130:and therefore a possible early onset of 260: 505:Familial hypercholesterolemia/Type IIa 229:First line of management is fibrates. 520:Familial hypertriglyceridemia/Type IV 495:Lipoprotein lipase deficiency/Type Ia 180:very-low-density-lipoprotein receptor 7: 158:(ApoE) is present. ApoE serves as a 300:. Saunders Elsevier. p. 534. 110:levels, and decreased HDL levels. 25: 640:APOA1 familial renal amyloidosis 510:Combined hyperlipidemia/Type IIb 193: 138:leading to a heart attack, i.e. 142:, chest pain on exercise, i.e. 100:Familial dysbetalipoproteinemia 33:Familial dysbetalipoproteinemia 1: 587:Chylomicron retention disease 104:type III hyperlipoproteinemia 46:Remnant hyperlipoproteinaemia 546:Hypoalphalipoproteinemia/HDL 249:List of cutaneous conditions 239:Primary hyperlipoproteinemia 582:Apolipoprotein B deficiency 569:Hypobetalipoproteinemia/LDL 244:Apolipoprotein B deficiency 136:peripheral vascular disease 682: 666:Lipid metabolism disorders 609:Barraquer–Simons syndrome 273:Dermatology: 2-Volume Set 120:xanthoma striatum palmare 68: 59: 124:tuberoeruptive xanthomas 132:coronary artery disease 54:Remnant removal disease 527:Xanthoma/Xanthomatosis 202:This section is empty. 42:Remnant hyperlipidemia 140:myocardial infarction 577:Abetalipoproteinemia 490:Hypertriglyceridemia 486:Hypercholesterolemia 275:. St. Louis: Mosby. 537:Hypolipoproteinemia 635:Lipoid proteinosis 405:External resources 114:Signs and symptoms 50:Broad beta disease 18:Broad beta disease 648: 647: 630:Adiposis dolorosa 595: 594: 428: 427: 307:978-0-7216-2921-6 282:978-1-4160-2999-1 222: 221: 97: 96: 27:Medical condition 16:(Redirected from 673: 542: 466:lipid metabolism 455: 448: 441: 432: 362: 350: 349: 342: 336: 335: 328: 322: 318: 312: 311: 293: 287: 286: 268: 217: 214: 204:You can help by 197: 190: 178:, also known as 156:apolipoprotein E 93: 92: 80:Medical genetics 64: 30: 21: 681: 680: 676: 675: 674: 672: 671: 670: 651: 650: 649: 644: 613: 591: 563: 559:Tangier disease 531: 472: 459: 429: 424: 423: 400: 399: 373: 359: 354: 353: 344: 343: 339: 330: 329: 325: 319: 315: 308: 295: 294: 290: 283: 270: 269: 262: 257: 235: 227: 218: 212: 209: 188: 152: 144:angina pectoris 128:atherosclerosis 116: 87: 28: 23: 22: 15: 12: 11: 5: 679: 677: 669: 668: 663: 653: 652: 646: 645: 643: 642: 637: 632: 627: 621: 619: 615: 614: 612: 611: 605: 603: 597: 596: 593: 592: 590: 589: 584: 579: 573: 571: 565: 564: 562: 561: 556: 550: 548: 539: 533: 532: 530: 529: 524: 523: 522: 517: 512: 507: 502: 497: 482: 480: 478:Hyperlipidemia 474: 473: 460: 458: 457: 450: 443: 435: 426: 425: 422: 421: 409: 408: 406: 402: 401: 398: 397: 386: 374: 369: 368: 366: 365:Classification 358: 357:External links 355: 352: 351: 337: 323: 313: 306: 288: 281: 259: 258: 256: 253: 252: 251: 246: 241: 234: 231: 226: 223: 220: 219: 200: 198: 187: 184: 151: 148: 115: 112: 95: 94: 77: 71: 70: 66: 65: 57: 56: 39: 35: 34: 26: 24: 14: 13: 10: 9: 6: 4: 3: 2: 678: 667: 664: 662: 659: 658: 656: 641: 638: 636: 633: 631: 628: 626: 623: 622: 620: 616: 610: 607: 606: 604: 602: 601:Lipodystrophy 598: 588: 585: 583: 580: 578: 575: 574: 572: 570: 566: 560: 557: 555: 552: 551: 549: 547: 543: 540: 538: 534: 528: 525: 521: 518: 516: 513: 511: 508: 506: 503: 501: 498: 496: 493: 492: 491: 487: 484: 483: 481: 479: 475: 471: 467: 463: 456: 451: 449: 444: 442: 437: 436: 433: 420: 416: 415: 411: 410: 407: 403: 396: 392: 391: 387: 385: 381: 380: 376: 375: 372: 367: 363: 356: 347: 341: 338: 333: 327: 324: 317: 314: 309: 303: 299: 292: 289: 284: 278: 274: 267: 265: 261: 254: 250: 247: 245: 242: 240: 237: 236: 232: 230: 224: 216: 213:November 2017 207: 203: 199: 196: 192: 191: 185: 183: 181: 177: 173: 169: 166:receptor for 165: 161: 157: 149: 147: 145: 141: 137: 133: 129: 125: 121: 113: 111: 109: 105: 101: 91: 85: 84:endocrinology 81: 78: 76: 72: 67: 63: 58: 55: 51: 47: 43: 40: 36: 31: 19: 514: 470:dyslipidemia 462:Inborn error 412: 388: 377: 340: 326: 316: 297: 291: 272: 228: 210: 206:adding to it 201: 168:chylomicrons 153: 117: 108:triglyceride 103: 99: 98: 53: 49: 45: 41: 625:Lipomatosis 414:MedlinePlus 332:"APOE gene" 38:Other names 655:Categories 255:References 225:Treatment 186:Diagnosis 75:Specialty 233:See also 162:for the 395:D006952 419:000402 384:107741 304:  279:  160:ligand 150:Causes 86:  618:Other 164:liver 464:of 390:MeSH 379:OMIM 302:ISBN 277:ISBN 176:VLDL 174:and 134:and 52:and 321:47. 208:. 172:IDL 170:, 102:or 657:: 468:: 417:: 393:: 382:: 263:^ 82:, 48:, 44:, 488:/ 454:e 447:t 440:v 371:D 348:. 334:. 310:. 285:. 215:) 211:( 20:)

Index

Broad beta disease

Specialty
Medical genetics
endocrinology
Edit this on Wikidata
triglyceride
xanthoma striatum palmare
tuberoeruptive xanthomas
atherosclerosis
coronary artery disease
peripheral vascular disease
myocardial infarction
angina pectoris
apolipoprotein E
ligand
liver
chylomicrons
IDL
VLDL
very-low-density-lipoprotein receptor

adding to it
Primary hyperlipoproteinemia
Apolipoprotein B deficiency
List of cutaneous conditions


ISBN
978-1-4160-2999-1

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