Abstract：
:Low serum high density lipoprotein cholesterol level (HDL-C) <40 mg/dL in men and <50 mg/dL in women is a significant independent risk factor for cardiovascular disease (CVD), and is often observed in patients with hypertriglyceridemia, obesity, insulin resistance, and diabetes. Patients with marked deficiency of HDL-C (<20 mg/dL) in the absence of secondary causes are much less common (<1% of the population). These patients may have homozygous, compound heterozygous, or heterozygous defects involving the apolipoprotein (APO)AI, ABCA1, or lecithin:cholesterol acyl transferase genes, associated with apo A-I deficiency, apoA-I variants, Tangier disease , familial lecithin:cholesteryl ester acyltransferase deficiency, and fish eye disease. There is marked variability in laboratory and clinical presentation, and DNA analysis is necessary for diagnosis. These patients can develop premature CVD, neuropathy, kidney failure, neuropathy, hepatosplenomegaly and anemia. Treatment should be directed at optimizing all non-HDL risk factors.
journal_name
Prog Cardiovasc Disjournal_title
Progress in cardiovascular diseasesauthors
Schaefer EJ,Anthanont P,Diffenderfer MR,Polisecki E,Asztalos BFdoi
10.1016/j.pcad.2016.08.006subject
Has Abstractpub_date
2016-01-01 00:00:00pages
97-106issue
2eissn
0033-0620issn
1873-1740pii
S0033-0620(16)30087-1journal_volume
59pub_type
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