Hooper Amanda J, Hegele Robert A, Burnett John R
Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network.
School of Medicine, Faculty of Health & Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.
Curr Opin Lipidol. 2020 Apr;31(2):80-84. doi: 10.1097/MOL.0000000000000669.
To appraise recent advances in our knowledge of the severe genetic HDL deficiency disorder, Tangier disease.
While Tangier disease can cause premature atherosclerotic cardiovascular disease (ASCVD), new evidence suggests that heterozygous ABCA1 variant carriers are also at increased risk. Advances have been made in the study of the neurological abnormalities observed in Tangier disease, both in their assessment and the identification of potential new therapies.
Tangier disease is an extremely rare condition and, as such, the published literature around its range of clinical manifestations, including peripheral neuropathy, premature ASCVD and platelet abnormalities is limited. Patient registries may assist in this regard.
评估我们对严重遗传性高密度脂蛋白缺乏症——丹吉尔病的最新认识进展。
虽然丹吉尔病可导致早发性动脉粥样硬化性心血管疾病（ASCVD），但新证据表明，杂合子ABCA1变异携带者的患病风险也会增加。在丹吉尔病所观察到的神经学异常研究方面，无论是评估还是潜在新疗法的识别都取得了进展。
丹吉尔病极为罕见，因此，关于其一系列临床表现（包括周围神经病变、早发性ASCVD和血小板异常）的已发表文献有限。患者登记可能在这方面有所帮助。
