Clinical features of type III hyperlipoproteinemia: analysis of 64 patients
Abstract
The clinical and biochemical characteristics of type III hyperlipoproteinemia are described in 64 patients (35 males and 29 females). Homozygosity for apolipoprotein E2, the presence of an abnormally cholesterol-rich very low density lipoprotein fraction (beta-VLDL) and an elevated ratio of very low density lipoprotein cholesterol to plasma triglycerides (> 0.3; normal ratio about 0.2) were the basis for the diagnosis. Mean serum cholesterol and triglyceride concentrations at the first visit in the clinic were 426 +/- 221 and 719 +/- 996 mg/dl, respectively. The mean age at diagnosis of the disorder was 49 years in males and 53 years in females. There was a high prevalence of obesity (72%), xanthomas (42%), and atherosclerosis (39%), especially peripheral vascular disease (31%). Early and correct diagnosis of this familial lipoprotein disorder seems necessary because of the prompt and beneficial response to therapeutic interventions.
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Palmar xanthomas occur in type III HLP patients at a rate of 39%.
“Typical (and nearly pathognomonic) findings are palmar xanthomas (orangeyellowish discolourations of the palmar creases) which have been reported to occur in these patients at a rate of 39%.3”
From Severe xanthomatosis associated with familial apolipoprotein E deficiency. (1996) · cites this paper as [3]
Cites
Human apolipoprotein E. The complete amino acid sequence
Rall, S. C., Weisgraber, K. H., & Mahley, R. W. (1982) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)34702-1 · Cited by 741 · see citing works
Zannis, V. I., & Breslow, J. L. (1981) · Biochemistry · doi:10.1021/bi00507a059 · Cited by 563 · see citing works
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Young, S., Veniant, M., Beigneux, A., Bensadoun, A., & Fong, L. (2008) · Current Drug Targets · doi:10.2174/138945008783755629 · Cited by 33 · see citing works
Severe xanthomatosis associated with familial apolipoprotein E deficiency.
Feussner, G. (1996) · Journal of Clinical Pathology · doi:10.1136/jcp.49.12.985 · Cited by 10 · see citing works
Self-citation
- Authors
- Feussner, G., Wagner, A., Kohl, B., & Ziegler, R.
- Affiliations
- Heidelberg University (DE)
- Corresponding author
- Ziegler, R.
- Venue
- The Clinical Investigator
- Published
- 1993
- Volume
- 71
- Issue
- 5
- Pages
- 362-6
- ISSN
- 0946-2716 (ISSN-L)
- 0941-0198
- 1432-1440
- OpenAlex
- W2092891802
- Cited by
- 27
- References
- 2
- Citations by year
- 2022: 2 · 2020: 2 · 2014: 2
- FWCI
- 1.58
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- type III hyperlipoproteinemia, familial hypertriglyceridemia, apolipoprotein E2, VLDL, obesity, xanthoma, atherosclerosis, peripheral vascular disease, serum cholesterol, serum triglycerides, age at diagnosis
- MeSH terms
- Adult, Apolipoproteins E, Arteriosclerosis, Cholesterol, Female, Homozygote, Humans, Hyperlipoproteinemia Type III, Lipoproteins, VLDL, Male, Middle Aged, Obesity, Triglycerides, Xanthomatosis, Peripheral Vascular Diseases, Apolipoprotein E2
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