Key result
Tangier disease is a rare genetic disorder caused by ABCA1 mutations that leads to extremely low HDL-cholesterol and requires management focused on preventing premature atherosclerosis.
This review highlights the clinical features of Tangier disease, emphasizing the need for early diagnosis and comprehensive cardiovascular risk factor management due to the lack of specific curative treatments.
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Reports additional Tangier disease case; extends sparse global cohort but leaves open genotype-phenotype correlations.
Koseki et al. (2021) conducted a review in Tangier disease (n=144). ABCA1 mutation was evaluated. Tangier disease is a rare genetic disorder caused by ABCA1 mutations that leads to extremely low HDL-cholesterol and requires management focused on preventing premature atherosclerosis.
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