A young type III hyperlipoproteinemic patient associated with apolipoprotein E deficiency
Abstract
A 13-year-old female patient had noticed tuberoeruptive xanthomas since 3 years of age. Her serum, VLDL, and IDL cholesterol levels were high (348, 158, and 60 mg/dL, respectively), while LDL and HDL cholesterol levels were 56 and 62 mg/dL, respectively. VLDL-cholesterol/serum triglyceride ratio was extremely high (0.86), suggesting type III hyperlipoproteinemia (HLP). Her apo E was undetectable by the single radial immunodiffusion studies and SDS-polyacrylamide gel electrophoresis. Her parents showed hypertriglyceridemia and her two siblings were normolipidemic, and their apo E levels were normal. Genomic DNA digested with BamHI or EcoRI did not show gross differences in the restriction fragment length between the apo-E-deficient patient and normal controls. Thus, apo E deficiency may be characterized by early appearance of clinical manifestations of type III HLP and higher VLDL-cholesterol/serum triglyceride ratio.
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Cases of apoE deficiency have been reported, but none included neurocognitive or retinal function studies.
“Cases of apoE deficiency have been reported,4-9 but none included neurocognitive or retinal function studies.”
From Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function (2014) · cites this paper as [5]
The increased amounts of apoA-IV in VLDL and IDL observed in the patient were also seen in other reports of apoE deficiency and in apoE-deficient mice.
“The increased amounts of apoA-IV in VLDL and IDL we observed were seen in other reports of apoE deficiency4,5,9 and in apoE-deficient mice.31”
From Effects of the Absence of Apolipoprotein E on Lipoproteins, Neurocognitive Function, and Retinal Function (2014) · cites this paper as [5]
Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes.
“Of the 11 cases of APOE deficiency with reported mutation sites, four were homozygotes and seven were compound heterozygotes or heterozygotes27, 29-40).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [30]
Of the 13 APOE deficiencies, two early studies of complete APOE deficiency only involved analysis at the protein level and the site of mutation was not reported.
“Of these, the two early studies of complete APOE deficiency only involved analysis at the protein level and the site of mutation was not reported30, 31).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [30]
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References 29 · Cited by 70
- Authors
- Mabuchi, H., Itoh, H., Takeda, M., Kajinami, K., Wakasugi, T., Koizumi, J., Takeda, R., & Asagami, C.
- Affiliations
- Kanazawa University (JP)
- Corresponding author
- Mabuchi, Hiroshi
- ORCID
- Itoh, Hideaki
- Venue
- Metabolism
- Publisher
- Elsevier BV
- Published
- 1989-02
- Volume
- 38
- Issue
- 2
- Pages
- 115-119
- ISSN
- 0026-0495 (ISSN-L)
- OpenAlex
- W2008692985
- Cited by
- 70
- References
- 29
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2019: 2 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 2 · 2012: 1
- FWCI
- 3.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Metabolism (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 › Surgery › Cholesterol and Lipid Metabolism
- Keywords
- type III hyperlipoproteinemia, apolipoprotein E deficiency, hypertriglyceridemia, familial hypertriglyceridemia
- MeSH terms
- Adolescent, Apolipoproteins, Apolipoproteins E, Cholesterol Esters, Female, Humans, Hyperlipoproteinemia Type III, Lipoproteins, Male, Triglycerides, Xanthogranuloma, Juvenile
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