دورية أكاديمية
Current Diagnosis and Management of Abetalipoproteinemia.
| العنوان: | Current Diagnosis and Management of Abetalipoproteinemia. |
|---|---|
| المؤلفون: | Takahashi M; Division of Endocrinology and Metabolism, Department of Internal Medicine, Jichi Medical University., Okazaki H; Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo., Ohashi K; Department of General Internal Medicine, National Cancer Center Hospital., Ogura M; Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute., Ishibashi S; Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, Jichi Medical University., Okazaki S; Division for Health Service Promotion, The University of Tokyo., Hirayama S; Department of Clinical Laboratory Medicine, Juntendo University Graduate School of Medicine., Hori M; Department of Endocrinology, Research Institute of Environmental Medicine, Nagoya University., Matsuki K; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine., Yokoyama S; Institute for Biological Functions, Chubu University., Harada-Shiba M; Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center Research Institute. |
| المصدر: | Journal of atherosclerosis and thrombosis [J Atheroscler Thromb] 2021 Oct 01; Vol. 28 (10), pp. 1009-1019. Date of Electronic Publication: 2021 May 16. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Japan Atherosclerosis Society Country of Publication: Japan NLM ID: 9506298 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1880-3873 (Electronic) Linking ISSN: 13403478 NLM ISO Abbreviation: J Atheroscler Thromb Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Tokyo : Japan Atherosclerosis Society |
| مواضيع طبية MeSH: | Abetalipoproteinemia/*diagnosis , Abetalipoproteinemia/*therapy, Abetalipoproteinemia/blood ; Abetalipoproteinemia/pathology ; Apolipoproteins B/blood ; Cholesterol, LDL/blood ; Cost of Illness ; Disease Management ; Humans ; Prognosis |
| مستخلص: | Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical signs and symptoms, diagnosis, and management of ABL, and 2) propose diagnostic criteria that define eligibility to receive financial support from the Japanese government for patients with ABL as a rare and intractable disease. In addition, our diagnostic criteria and the entry criterion of low-density lipoprotein cholesterol (LDL-C) ＜15 mg/dL and apoB ＜15 mg/dL can be useful in universal or opportunistic screening for the disease. Registry research on ABL is currently ongoing to better understand the disease burden and unmet needs of this life-threatening disease with few therapeutic options. |
| References: | Atherosclerosis. 2019 May;284:75-82. (PMID: 30875496) J Lipid Res. 2003 Jan;44(1):22-32. (PMID: 12518019) Circ Cardiovasc Genet. 2015 Oct;8(5):677-87. (PMID: 26224785) Gene. 2013 Jan 1;512(1):28-34. (PMID: 23043934) Ann Hepatol. 2011 Apr-Jun;10(2):221-6. (PMID: 21502686) Hum Mutat. 2011 Jul;32(7):751-9. (PMID: 21394827) Eur J Hum Genet. 2015 Jun;23(6):. (PMID: 25335495) Pediatr Int. 2019 May;61(5):508-509. (PMID: 31087595) Ann Clin Biochem. 2006 Nov;43(Pt 6):516-9. (PMID: 17132287) Blood. 1950 Apr;5(4):381-87. (PMID: 15411425) J Atheroscler Thromb. 2020 Jun 1;27(6):489-498. (PMID: 32350167) Eur J Pediatr. 2006 Jan;165(1):68-70. (PMID: 16143868) Hum Mol Genet. 1993 Dec;2(12):2109-16. (PMID: 8111381) Annu Rev Nutr. 2000;20:663-97. (PMID: 10940349) J Clin Lipidol. 2019 Jan - Feb;13(1):201-212. (PMID: 30522860) Clin Lipidol. 2010 Jun;5(6):793-809. (PMID: 22505953) J Inherit Metab Dis. 2014 May;37(3):333-9. (PMID: 24288038) J AAPOS. 2019 Jun;23(3):176-177. (PMID: 30731125) Orphanet J Rare Dis. 2010 Sep 29;5:24. (PMID: 20920215) Orphanet J Rare Dis. 2008 Jul 08;3:19. (PMID: 18611256) Science. 1992 Nov 6;258(5084):999-1001. (PMID: 1439810) Eur J Hum Genet. 2015 Jun;23(6):. (PMID: 25335492) Ann Intern Med. 2019 Feb 5;170(3):211-213. (PMID: 30398540) J Clin Invest. 2010 Aug;120(8):2889-99. (PMID: 20592474) J Lipid Res. 2012 Mar;53(3):548-555. (PMID: 22236406) Diagn Pathol. 2013 Apr 04;8:54. (PMID: 23556456) Ann Ital Chir. 2004 Nov-Dec;75(6):683-90. (PMID: 15960365) Nature. 1993 Sep 2;365(6441):65-9. (PMID: 8361539) Arterioscler Thromb Vasc Biol. 1999 Aug;19(8):1950-5. (PMID: 10446076) Am J Hum Genet. 1995 Dec;57(6):1298-310. (PMID: 8533758) Proc Natl Acad Sci U S A. 2019 Aug 27;116(35):17251-17260. (PMID: 31395737) Indian J Gastroenterol. 2016 May;35(3):236-41. (PMID: 27160094) J Clin Neurosci. 2014 Feb;21(2):311-5. (PMID: 24139731) Biochim Biophys Acta. 2016 Nov;1861(11):1623-1633. (PMID: 27487388) Biochim Biophys Acta. 2014 Oct;1842(10):1548-54. (PMID: 25108285) J Lipid Res. 2000 Aug;41(8):1199-204. (PMID: 10946006) J Hepatol. 2014 Oct;61(4):891-902. (PMID: 24842304) Gastroenterology. 1991 Aug;101(2):520-8. (PMID: 2065927) Am J Med. 1970 Oct;49(4):568-71. (PMID: 5477641) J Coll Physicians Surg Pak. 2011 Feb;21(2):117-8. (PMID: 21333248) J Biol Chem. 1990 Jun 15;265(17):9800-7. (PMID: 2351674) Arch Dis Child. 1965 Feb;40:47-51. (PMID: 14259271) J Clin Lab Anal. 2021 Mar;35(3):e23672. (PMID: 33258201) Clin Genet. 2012 Aug;82(2):197-200. (PMID: 22150066) JIMD Rep. 2015;22:85-94. (PMID: 25763510) J Membr Biol. 1984;77(2):153-9. (PMID: 6708089) Sci Rep. 2016 Jun 03;6:27308. (PMID: 27256115) Gastrointest Endosc. 1978 Feb;24(3):123-4. (PMID: 631521) |
| فهرسة مساهمة: | Keywords: Abetalipoproteinemia; Chylomicron; Fat-soluble vitamin; Hypolipidemia; MTTP; VLDL |
| المشرفين على المادة: | 0 (Apolipoproteins B) 0 (Cholesterol, LDL) |
| تواريخ الأحداث: | Date Created: 20210517 Date Completed: 20220216 Latest Revision: 20220216 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8560840 |
| DOI: | 10.5551/jat.RV17056 |
| PMID: | 33994405 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1880-3873 |
|---|---|
| DOI: | 10.5551/jat.RV17056 |