Severe acquired (secondary) high-density lipoprotein deficiency

Goldberg, Ronald; Mendez, Armando J.

doi:10.1016/j.jacl.2007.02.003

Cited by 21 publications

(23 citation statements)

References 79 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…2 Severe HDL deficiency occurs when the levels of HDL-C are below the first percentile: 20 mg/dL (0.52 mmol/L). 3,4 These extreme values are often observed in patients with hypertriglyceridemia (HTG; triglyceride [TG] . 5.7 mmol/L) or, in the absence of HTG, in patients with malignancy or treated with anabolic steroids and in patients with rare monogenic disorders affecting the metabolism of HDL (primary HDL deficiency).…”

Section: Introductionmentioning

confidence: 99%

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Pisciotta

Vitali

Favari

et al. 2015

Journal of Clinical Lipidology

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-I Guastalla )

Pisciotta

Vitali

Favari

et al. 2015

Journal of Clinical Lipidology

View full text Add to dashboard Cite

show abstract

“…Very low levels of HDL cholesterol can be observed in patients with marked hypertriglyceridemia, monoclonal gammopathy or severe liver disease, or in sub- jects taking anabolic steroids or the combination of a fibrate and a thiazolidinedione. 3 These conditions can be distinguished by a metabolic profile including bilirubin, alkaline phosphatase, and liver transaminase measurements, protein electrophoresis, a fasting lipid profile, and a good medical history. If it is due to medications, baseline HDL concentration should be restored within a few weeks after discontinuation.…”

Section: Clinical Diagnosismentioning

confidence: 99%

“…2 Severe HDL deficiency can also occur in subjects using anabolic steroids or the combination of a fibrate and a thiazolidinedione, as well as patients with monoclonal gammopathies. 3 HDL-cholesterol concentrations Ͻ10 mg/dL are uncommon in patients affected with apolipoprotein (Apo) A-I Milano or other ApoA-I variants. 4 In this review, we not only provide a conceptual framework of the etiology of severe HDL-deficiency states, but also an explanation for why some of these disorders are linked to premature coronary heart disease (CHD) and others are not.…”

mentioning

confidence: 99%

Clinical presentation, laboratory values, and coronary heart disease risk in marked high-density lipoprotein–deficiency states

Santos

Asztalos

Martínez

et al. 2008

Journal of Clinical Lipidology

View full text Add to dashboard Cite

Our purpose is to provide a framework for diagnosing the inherited causes of marked high-density lipoprotein (HDL) deficiency (HDL cholesterol levels <10 mg/dL in the absence of severe hypertriglyceridemia or liver disease) and to provide information about coronary heart disease (CHD) risk for such cases. Published articles in the literature on severe HDL deficiencies were used as sources. If apolipoprotein (Apo) A-I is not present in plasma, then three forms of ApoA-I deficiency, all with premature CHD,and normal low-density lipoprotein (LDL) cholesterol levels have been described: ApoA-I/C-III/A-IV deficiency with fat malabsorption, ApoA-I/C-III deficiency with planar xanthomas, and ApoA-I deficiency with planar and tubero-eruptive xanthomas (pictured in this review for the first time). If ApoA-I is present in plasma at a concentration <10 mg/dL, with LDL cholesterol that is about 50% of normal and mild hypertriglyceridemia, a possible diagnosis is Tangier disease due to mutations at the adenosine triphosphate binding cassette protein A1 (ABCA1) gene locus. These patients may develop premature CHD and peripheral neuropathy, and have evidence of cholesteryl ester-laden macrophages in their liver, spleen, tonsils, and Schwann cells, as well as other tissues. The third form of severe HDL deficiency is characterized by plasma ApoA-I levels <40 mg/dL, moderate hypertriglyceridemia, and decreased LDL cholesterol, and the finding that most of the cholesterol in plasma is in the free rather than the esterified form, due to a deficiency in lecithin:cholesterol acyltransferase activity. These patients have marked corneal opacification and splenomegaly, and are at increased risk of developing renal failure, but have no clear evidence of premature CHD. Marked HDL deficiency has different etiologies and is generally associated with early CHD risk.

show abstract

“…Most cases are associated with severe hypertriglyceridemia, severe sepsis or burns, administration of high doses of androgenic steroids, or severe hepatic insufficiency and are therefore relatively easy to identify. 2 Less commonly, severe HDL deficiency may develop in subjects without these conditions. One form occurs in subjects receiving peroxisome proliferator-activated receptor agonists, especially rosiglitazone and fenofibrate, typically in combination, but it has also been described in individuals receiving monotherapy with thiazolidinediones or fibrates.…”

mentioning

confidence: 99%

“…One form occurs in subjects receiving peroxisome proliferator-activated receptor agonists, especially rosiglitazone and fenofibrate, typically in combination, but it has also been described in individuals receiving monotherapy with thiazolidinediones or fibrates. 2 Although the etiology of severe HDL deficiency in these patients is unknown, it is presumably an idiosyncratic reaction to these agents since they typically raise HDL-C. Because the phenotype develops in otherwise-healthy subjects with diabetes or dyslipidemia who previously had normal or at most moderately reduced HDL-C and in whom a marked drop in HDL-C (#15 mg/dL) or even complete disappearance occurs, the term ''disappearing HDL syndrome'' was coined. Once the offending agent(s) are discontinued, HDL-C levels typically return to their previous values.…”

mentioning

confidence: 99%