Key result
Severe HDL deficiency linked to ~91% shorter apoA-I plasma residence time in case report.
Why the study?
A form of severe hypoalphalipoproteinemia distinct from Tangier disease caused by marked hypercatabolism of normal apoA-I had not been established.
Population
46-year-old man with severe HDL deficiency and his kindred
Comparison
Normal apoA-I gene sequence with marked hypercatabolism vs typical Tangier disease
Design
Case report with kinetic study using deuterated leucine labeling
Authors
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Severe HDL deficiency with CAD in one kindred warrants diagnostic caution; leaves open cosegregation with premature atherosclerosis.
Case Report (n=1)
Absolute Event Rate: 0.38% vs 4.1%
Emmerich et al. (1993) conducted a case report in Familial HDL deficiency (n=1). Severe HDL deficiency vs. Control subject was evaluated on Plasma residence time of apoA-I in days. A 46-year-old man with severe HDL deficiency exhibited marked hypercatabolism of apoA-I, with a plasma residence time of 0.38 days compared to 4.10 days in a control subject.
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