Amanda J Hooper1,2, Robert A Hegele3, John R Burnett1,2. 1. Department of Clinical Biochemistry, PathWest Laboratory Medicine WA, Royal Perth Hospital & Fiona Stanley Hospital Network. 2. School of Medicine, Faculty of Health & Medical Sciences, University of Western Australia, Perth, Western Australia, Australia. 3. Departments of Medicine and Biochemistry, Schulich School of Medicine and Robarts Research Institute, Western University, London, Ontario, Canada.
Abstract
PURPOSE OF REVIEW: To appraise recent advances in our knowledge of the severe genetic HDL deficiency disorder, Tangier disease. RECENT FINDINGS: 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. SUMMARY: 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.
PURPOSE OF REVIEW: To appraise recent advances in our knowledge of the severe genetic HDL deficiency disorder, Tangier disease. RECENT FINDINGS: 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. SUMMARY: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.
Authors: Tomáš Zárybnický; Anne Heikkinen; Salla M Kangas; Marika Karikoski; Guillermo Antonio Martínez-Nieto; Miia H Salo; Johanna Uusimaa; Reetta Vuolteenaho; Reetta Hinttala; Petra Sipilä; Satu Kuure Journal: Cells Date: 2021-11-13 Impact factor: 6.600