Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura

Clinical Considerations of Abetalipoproteinemia: literature Review

Publicado 2020-04-30


https://doi.org/10.30554/archmed.20.2.3624.
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura. Archivos De Medicina, 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.
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Lozada Martinez, I. D., Bolaño Romero, M. P., Suarez Causado, A., & Diaz Gonzalez, A. C. (2020). Consideraciones clínicas de la abetalipoproteinemia: revisión de la literatura. Archivos De Medicina, 20(2), 461-471. https://doi.org/10.30554/archmed.20.2.3624.

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Ivan David Lozada Martinez
Universidad de Cartagena
https://orcid.org/0000-0002-1960-7334 ORCID
Maria Paz Bolaño Romero
Universidad de Cartagena
https://orcid.org/0000-0001-8962-6947 ORCID
Amileth Suarez Causado
Universidad de Cartagena
https://orcid.org/0000-0003-2807-0679 ORCID
Andrea Carolina Diaz Gonzalez
Universidad de Cartagena
https://orcid.org/0000-0003-0645-7741 ORCID
Mostrar biografía de los autores

Ivan David Lozada Martinez,

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena

Maria Paz Bolaño Romero,

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena,

Amileth Suarez Causado,

Doctora en Bioquímica y Biología Molecular, Directora Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena

Andrea Carolina Diaz Gonzalez,

Estudiante de Medicina, Grupo de Investigación Prometeus y Biomedicina aplicada a las ciencias clínicas, Facultad de Medicina, Universidad de Cartagena, Cartagena, Colombia

La abetalipoproteinemia es una enfermedad rara que se suele presentarse en la primera década de la vida; sus principales manifestaciones son esteatorrea, alteración en el desarrollo y niveles plasmáticos lipídicos considerablemente disminuidos. Sin embargo, este cuadro suele ser confuso, puesto que existe un grupo de desórdenes genéticos que conllevan a mala absorción lipídica, que requieren un exhaustivo diagnóstico diferencial desde el punto de vista clínico, bioquímico y molecular. Este artículo expone una revisión actualizada sobre la abetalipoproteinemia, enfocándose en su fisiopatología, manifestaciones sistémicas, diagnóstico y abordaje en general, para facilitar su comprensión integral. La estrategia de búsqueda y los métodos de selección de estudios se realizó con base en elementos de la declaración prisma y guías Cochrane, utilizando términos de búsqueda tales como “abetalipoproteinemia” ,“bioquímica” y sinónimos, los cuales fueron combinados con los operadores “and” y “or”, en las bases de datos PubMed, Science Direct, Clinical Key y Ebsco. No existe mucha literatura específica sobre esta condición, lo cual explica que sea una entidad subvalorada y poco conocida. Es fundamental realizar más investigaciones en torno al tema, pues en caso de no establecerse un diagnóstico y manejo adecuado, las complicaciones serán muchas y severas.

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  1. Boltshauser E, Weber KP. Laboratory investigations.
  2. Handb Clin Neurol 2018; 154:287-298.
  3. DOI: 10.1016/B978-0-444-63956-1.00017-5
  4. Mushtaq I, Cheema HA, Malik HS, Waheed N,
  5. Hashmi MA, Malik HS. Causes Of Chronic Non-
  6. Infectious Diarrhoea In Infants Less Than 6
  7. Months Of Age: Rarely Recognized Entities. J
  8. Ayub Med Coll Abbottabad 2017; 29(1):78-82.
  9. Ueda M, Burke F, Maeda M, McIntyre A, Hegele R, Malloy
  10. M, et al. Importance of Nutritional Intervention
  11. for Infants with Abetalipoproteinemia. J Clin Lipidol
  12. ; 13(3):e44. DOI: 10.1016/j.jacl.2019.04.074
  13. Strain JE, Vigilante JA, DiGeorge NW. Hypolipidemia
  14. in a Special Operations Candidate: Case
  15. Report and Review of the Literature. J Spec Oper
  16. Med 2015; 15(4):1-5.
  17. Tarugi P, Averna M. Hypobetalipoproteinemia:
  18. genetics, biochemistry, and clinical spectrum.
  19. Adv Clin Chem 2011; 54:81–107. DOI:
  20. https://doi.org/10.1016/B978-0-12-387025-4.00004-2
  21. Simone ML, Rabacchi C, Kuloglu Z, Kansu A, Ensari
  22. A, Demir AM, et al. Novel mutations of SAR1B
  23. gene in four children with chylomicron retention
  24. disease. J Clin Lipidol 2019; 13(4):554-562.
  25. DOI: 10.1016/j.jacl.2019.05.013
  26. Kersten S. Angiopoietin-like 3 in lipoprotein metabolism.
  27. Nat Rev Endocrinol 2017; 13(12):731–739.
  28. DOI: 10.1038/nrendo.2017.119
  29. Levy E. Insights from human congenital disorders
  30. of intestinal lipid metabolism. J Lipid Res
  31. ; 56(5):945–962. DOI: 10.1194/jlr.R052415
  32. Julve J, Martin-Campos JM, Escola-Gil JC, Blanco-
  33. Vaca F. Chylomicrons: advances in biology,
  34. pathology, laboratory testing, and therapeutics.
  35. Clin Chim Acta 2016; 455:134–148.
  36. DOI: 10.1016/j.cca.2016.02.004
  37. Schonfeld G, Lin X, Yue P. Familial hypobetalipoproteinemia:
  38. genetics and metabolism. Cell Mol
  39. Life Sci 2005; 62(12):1372–1378.
  40. DOI: https://doi.org/10.1007/s00018-005-4473-0
  41. Peretti N, Sassolas A, Roy CC, Deslandres C, Charcosset
  42. M, Castagnetti J, et al. Guideline for the
  43. diagnosis and management of chylomicron retention
  44. disease based on a review of the literature
  45. and the experience of two centers. Orphanet J
  46. Rare Dis 2010; 5:24. DOI: 10.1186/1750-1172-5-24.
  47. Hentati F, El-Euch G, Bouhlal Y, Amouri R. Ataxia
  48. with vitamin E deficiency and abetalipoproteinemia.
  49. Handb Clin Neurol 2012; 103:295-305.
  50. DOI: 10.1016/B978-0-444-51892-7.00018-8.
  51. Wang LR, McIntyre AD, Hegele RA. Complex genetic
  52. architecture in severe hypobetalipoproteinemia.
  53. Lipids Health Dis 2018; 17(1):48.
  54. DOI: 10.1186/s12944-018-0680-1
  55. Ramasamy I. Update on the molecular biology of
  56. dyslipidemias. Clin Chim Acta 2016; 454:143-85.
  57. DOI: 10.1016/j.cca.2015.10.033
  58. Yilmaz BS, Mungan NO, Di Leo E, Magnolo L, Artuso
  59. L, Bernardis I, et al. Homozygous familial hypobetalipoproteinemia:
  60. A Turkish case carrying a missense
  61. mutation in apolipoprotein B. Clin Chim Acta
  62. ; 452:185-190. DOI: 10.1016/j.cca.2015.11.017
  63. Walsh MT, Iqbal J, Josekutty J, Soh J, Di Leo E,
  64. Özaydin E, et al. Novel Abetalipoproteinemia Missense
  65. Mutation Highlights the Importance of the
  66. N-Terminal β-Barrel in Microsomal Triglyceride
  67. Transfer Protein Function. Circ Cardiovasc Genet
  68. ; 8(5):677-687.
  69. DOI: 10.1161/CIRCGENETICS.115.001106
  70. Di Filippo M, Frachon S, Janin A, Rajan S, Marmontel
  71. O, Decourt C, et al. Normal serum ApoB48 and
  72. red cells vitamin E concentrations after supplementation
  73. in a novel compound heterozygous
  74. case of abetalipoproteinemia. Atherosclerosis
  75. ; 284:75-82.
  76. DOI: 10.1016/j.atherosclerosis.2019.02.016
  77. Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais
  78. C, et al. Efficacy of two vitamin E formulations
  79. in patients with abetalipoproteinemia and
  80. chylomicron retention disease. J Lipid Res 2018;
  81. :1640–1648. DOI: 10.1194/jlr.M085043
  82. Hooper AJ, Burnett J. Update on primary hypobetalipoproteinemia.
  83. Curr Atheroscler Reports 2014;
  84. (7):423. DOI: 10.1007/s11883-014-0423-3
  85. Di Filippo M, Moulin P, Roy P, Samson-Bouma ME,
  86. Collardeau-Frachon S, Chebel-Dumont S, et al.
  87. Homozygous MTTP and APOB mutations may
  88. lead to hepatic steatosis and fibrosis despite
  89. metabolic differences in congenital hypocholesterolemia.
  90. J Hepatol 2014; 61:891–902.
  91. DOI: 10.1016/j.jhep.2014.05.023
  92. Sirwi A, Hussain MM. Lipid transfer proteins in the
  93. assembly of apoB-containing lipoproteins. J Lipid
  94. Res 2018; 59:1094-1102. DOI: 10.1194/jlr.R083451
  95. Hussain MM, Shi J, Dreizen P. Microsomal triglyceride
  96. transfer protein and its role in apoBlipoprotein
  97. assembly. J Lipid Res 2003; 44:22-32.
  98. DOI: 10.1194/jlr.R200014-JLR200
  99. Davis RA, Thrift RN, Wu CC, Howell KE. Apolipoprotein
  100. B is both integrated into and translocated
  101. across the endoplasmic reticulum membrane.
  102. Evidence for two functionally distinct pools. J
  103. Biol Chem 1990; 265(17):10005-10011.
  104. Zhou M, Fisher EA, Ginsberg HN. Regulated Cotranslational
  105. ubiquitination of apolipoprotein
  106. B100. A new paradigm for proteasomal degradation
  107. of a secretory protein. J Biol Chem 1998;
  108. :24649-24653.
  109. Literatura citada
  110. Archivos de Medicina Volumen 20 Nº 2 - Julio-Diciembre de 2020
  111. Universidad de Manizales - Facultad de Ciencias de la Salud
  112. Miller SA, Burnett JR, Leonis MA, McKnight CJ, van
  113. Bockxmeer FM, Hooper AJ. Novel missense MTTP
  114. gene mutations causing abetalipoproteinemia.
  115. Biochim Biophys Acta 2014; 1841(10):1548-1554.
  116. DOI: 10.1016/j.bbalip.2014.08.001
  117. Gündüz M, Özaydın E, Atar MB, Koç N, Kırsaçlıoğlu
  118. C, Köse G, et al., Microsomal triglyceride transfer
  119. protein gene mutations in Turkish children: A
  120. novel mutation and clinical follow up. Indian J
  121. Gastroenterol 2016; 35(3):236-241.
  122. DOI: 10.1007/s12664-016-0654-z
  123. Paquette M, Dufour R, Hegele RA, Baass A. A tale
  124. of 2 cousins: An atypical and a typical case
  125. of abetalipoproteinemia. J Clin Lipidol 2016;
  126. (4):1030-1034. DOI: 10.1016/j.jacl.2016.01.003
  127. Liu Y, Conlon DM, Bi X, Slovik KJ, Shi J, Edelstein HI,
  128. et al., Lack of MTTP Activity in Pluripotent Stem
  129. Cell-Derived Hepatocytes and Cardiomyocytes
  130. Abolishes apoB Secretion and Increases Cell
  131. Stress. Cell Rep 2017; 19(7):1456-1466.
  132. DOI: 10.1016/j.celrep.2017.04.064
  133. Di Filippo M, Varret M, Boehm V, Rabés JP, Ferkdadji
  134. L, Abramowitz L, et al. Post-prandial lipid
  135. absorption in seven heterozygous carriers of
  136. deleterious variants of MTTP in two abetalipoproteinemic
  137. families. J Clin Lipidol 2018; 13(1):201-
  138. DOI: 10.1016/j.jacl.2018.10.003
  139. Shoulders CC, Brett DJ, Bayliss JD, Narcisi TM, Jarmuz
  140. A, Grantham TT, et al. Abetalipoproteinemia is
  141. caused by defects of the gene encoding the 97
  142. kDa subunit of a microsomal triglyceride transfer
  143. protein. Hum Mol Genet 1993; 2:2109-2116.
  144. DOI: https://doi.org/10.1093/hmg/2.12.2109
  145. Burnett JR, Hooper AJ, Hegele RA. Abetalipoproteinemia
  146. En: Adam MP, Ardinger HH, Pagon RA,
  147. et al., editors. GeneReviws. Seattle: University of
  148. Washington; 2018.
  149. Khatun I, Walsh MT, Hussain MM. Loss of both
  150. phospholipid and triglyceride transfer activities
  151. of microsomal triglyceride transfer protein in
  152. abetalipoproteinemia. J Lipid Res 2013; 54:1541–
  153. DOI: 10.1194/jlr.M031658
  154. Lee J, Hegele RA. Abetalipoproteinemia and
  155. homozygous hypobetalipoproteinemia: a framework
  156. for diagnosis and management. J Inherit
  157. Metab Dis 2014; 37:333–339.
  158. DOI: 10.1007/s10545-013-9665-4
  159. Zamel R, Khan R, Pollex RL, Hegele RA. Abetalipoproteinemia:
  160. two cases and literature review.
  161. Orphanet J Rare Dis 2008; 3:19.
  162. DOI: 10.1186/1750-1172-3-19
  163. Aers XP, Leroy BP, Defesche JC, Shadid S. Abetalipoproteinemia
  164. From Previously Unreported Gene
  165. Mutations. Ann Intern Med 2019; 170(3):211-213.
  166. DOI: 10.7326/L18-0358
  167. Hussain MM, Rava P, Walsh M, Rana M, Iqbal J.
  168. Multiple functions of microsomal triglyceride
  169. transfer protein. Nutr Metab (Lond) 2012; 9:14.
  170. DOI: 10.1186/1743-7075-9-14
  171. Hammer MB, El Euch-Fayache G, Nehdi H, Feki
  172. M, Maamouri-Hicheri W, Hentati F, et al. Clinical
  173. features and molecular genetics of two Tunisian
  174. families with abetalipoproteinemia. J Clin Neurosci
  175. ; 21(2):311–315.
  176. DOI: 10.1016/j.jocn.2013.04.016
  177. Chardon L, Sassolas A, Dingeon B, Michel-Calemard
  178. L, Bovier-Lapierre M, Moulin P, et al. Identification
  179. of two novel mutations and long-term follow-up
  180. in abetalipoproteinemia: a report of four cases.
  181. Eur J Pediatr 2009; 168(8):983–989.
  182. DOI: 10.1007/s00431-008-0888-6
  183. Najah M, Youssef SM, Yahia HM, Afef S, Awatef
  184. J, Saber H, et al. Molecular characterization of
  185. Tunisian families with abetalipoproteinemia and
  186. identification of a novel mutation in MTTP gene.
  187. Diagn Pathol 2013; 48:54.
  188. DOI: 10.1186/1746-1596-8-54
  189. Zeissig S, Dougan SK, Barral DC. Primary deficiency
  190. of microsomal triglyceride transfer protein
  191. in human abetalipoproteinemia is associated
  192. with loss of CD1 function. J Clin Invest 2010;
  193. :2889–99. DOI: 10.1172/JCI42703
  194. Barakizou H, Gannouni S, Messaoui K, Difilippo M,
  195. Sassolas A, Bayoudh F. Abetalipoproteinemia:
  196. A novel mutation of microsomal triglyceride
  197. transfer protein (MTP) gene in a young Tunisian
  198. patient. Egypt J Med Hum Genet 2016; 17(3):251-
  199. DOI: 10.1016/j.ejmhg.2015.12.003
  200. Rashtian P, Najafi Sani M, Jalilian R. A Male Infant
  201. with Abetalipoproteinemia: A Case Report from
  202. Iran. Middle East J Dig Dis 2015; 7:181-4.
  203. Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet
  204. G, Durandy A, et al. A severe form of Abetalipoproteinemia
  205. caused by new splicing mutations of
  206. microsomal triglyceride transfer protein (MTTP).
  207. Human Mutation 2011; 32:751–759.
  208. DOI: 10.1002/humu.21494
  209. Uslu N, Gurakan F, Yuce A, Demir H, Tarugi P.
  210. Abetalipoproteinemia in an infant with severe
  211. clinical phenotype and a novel mutation. Turk J
  212. Pediat 2010; 52(1):73-77.
  213. Burnett JR, Hooper AJ. Vitamin E and oxidative
  214. stress in abetalipoproteinemia and familial
  215. hypobetalipoproteinemia. Free Radic Biol Med
  216. ; 88:59-62.
  217. DOI: 10.1016/j.freeradbiomed.2015.05.044
  218. Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia.
  219. Curr Opin Lipidol 2014; 25(3):161–168.
  220. DOI: 10.1097/MOL.0000000000000072
  221. Revisión de Tema
  222. Consideraciones clínicas de la abetalipoproteinemia pp 461-471
  223. Burnett JR, Zhong S, Jiang ZG, Hooper AJ, Fisher
  224. EA, McLeod RS, et al. Missense mutations in
  225. APOB within the betaalpha1 domain of human
  226. APOB-100 result in impaired secretion of apoB
  227. and apoB-containing lipoproteins in familial
  228. hypobetalipoproteinemia. J Biol Chem 2007;
  229. (33):24270–24283.
  230. DOI: https://doi.org/10.1074/jbc.M702442200
  231. Tanoli T, Yue P, Yablonskiy D, Schonfeld G. Fatty
  232. liver in familial hypobetalipoproteinemia: roles
  233. of the APOB defects, intra-abdominal adipose
  234. tissue, and insulin sensitivity. J Lipid Res 2004;
  235. (5):941–947.
  236. DOI: 10.1194/jlr.M300508-JLR200
  237. Traber MG. Mechanisms for the prevention of vitamin
  238. E excess. J Lipid Res 2013; 54(9):2295–2306.
  239. DOI: 10.1194/jlr.R032946
  240. Ulatowski L, Manor D. Vitamin E trafficking in
  241. neurologic health and disease. Annu Rev Nutr
  242. ; 33:87–103.
  243. DOI: 10.1146/annurev-nutr-071812-161252
  244. Havel RJ, Kane JP. Introduction: structure and
  245. metabolism of plasma lipoproteins. In: Scriver
  246. CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic
  247. and Molecular Bases of Inherited Disease.
  248. th ed. New York: McGraw-Hill; 1995. p. 1841-1851.
  249. DOI: 10.1036/ommbid.142
  250. Young SG. Recent progress in understanding apolipoprotein
  251. B. Circulation 1990; 82(5):1574–1594.
  252. DOI: https://doi.org/10.1161/01.CIR.82.5.1574
  253. Linton MF, Farese RV Jr, Young SG. Familial
  254. hypobetalipoproteinemia. J Lipid Res 1993;
  255. (4):521–541.
  256. Visser ME, Lammers NM, Nederveen AJ, Van der
  257. Graaf M, Heerschap A, Ackermans MT, et al. Hepatic
  258. steatosis does not cause insulin resistance
  259. in people with familial hypobetalipoproteinaemia.
  260. Diabetologia 2011; 54:2113–2121.
  261. DOI: 10.1007/s00125-011-2157-x

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