Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have characterized the clinical and biochemical features of three siblings of a kindred with severe hypertriglyceridaemia due to apolipoprotein C-II (apo C-II) deficiency caused by the mutation described as apo C-IIHamburg. The clinical syndrome is characterized by recurrent pancreatitis in two of three affected individuals, with discrete hepatosplenomegaly in all three patients and cholelithiasis in one. Eruptive xanthomas and lipemia retinalis were absent. Plasma lipoproteins were characterized by fasting chylomicronaemia, reduced low density lipoproteins (LDL) and low high density lipoproteins (HDL). The marked hypertriglyceridaemia could be corrected promptly by infusion of normal plasma. Apolipoprotein C-II (apo C-II) levels in homozygotes were very low (0.01 mg dl-1), and mean apo C-II levels in heterozygotes were lower (2.08 +/- 0.11 mg dl-1) than in normal family members (3.38 +/- 0.75 mg dl-1). Lipoprotein lipase and hepatic triglyceride lipase activities in post-heparin plasma were normal. Zonal ultracentrifugation revealed a marked increase in triglyceride-rich lipoproteins and reduced LDL and HDL. LDL consisted of two fractions with higher hydrated density of the main fraction compared with normals with a trend to normalization on a fat-free diet. The molecular defect in the apo C-II Hamburg gene has been previously identified as a donor splice site mutation in the second intron. This leads to abnormal splicing of the apo C-II Hamburg mRNA and apo C-II deficiency in plasma. The mutation causes the loss of an HphI restriction enzyme site present in the normal apo C-II gene.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Apolipoprotein C-II deficiency syndrome due to apo C-IIHamburg: clinical and biochemical features and HphI restriction enzyme polymorphism. 134 86

Several eye signs may present secondary to altered blood lipid levels. It is important to recognize these signs and their implications relative to both primary and secondary hyperlipoproteinemias. The significance of corneal arcus is age related, while isolated xanthelasma implies altered blood lipid levels in 30-50% of the cases. Eruptive xanthomas imply triglyceride levels in excess of 1500 mg% while lipemia retinalis presents when triglyceride levels exceed 2500 mg%. Retinal emboli present as a sign of an eroding atheroma and as such an indicator of the possibility of an impending stroke. Altered blood lipid levels represent a threat to life and must be recognized as early as possible to institute therapy. Therapy may be directed to either the primary or secondary causes of hyperlipoproteinemias.
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PMID:Ocular signs and symptoms of altered blood lipids. 684 66

Eruptive xanthomas in adults are usually indicative of chylomicronemia. Although diabetes mellitus is the most common secondary cause of chylomicronemia, which is designated as diabetic lipemia, the clinical characteristics of diabetes with regard to development of xanthomas are not well defined. In this paper, we describe a young female who displayed eruptive xanthomas as an initial manifestation of diabetic lipemia. The patient was a 20-year-old female with a body mass index of 18.9 kg/m2 and Marfanoid appearance. Her past history was unremarkable, except for patent ductus arteriosus and mild mental retardation. She was admitted to our division for eruptive xanthomas on the extremities and marked hyperglycemia (random glucose, 520 mg/dl) and hypertriglyceridemia (6880 mg/dl). She was diagnosed with Type 2 diabetes based on the positive family history of diabetes, residual secretory capacity of insulin, and absence of autoantibodies related to Type 1 diabetes. Based on the increase in the concentrations of both chylomicrons and very low density lipoproteins, type V hyperlipoproteinemia was diagnosed. After the initiation of insulin therapy, both hypertriglyceridemia and eruptive xanthomas subsided, without administering any hypolipidemic agents. Minimal model analysis of a frequently sampled intravenous glucose tolerance test revealed severe insulin resistance, despite the absence of obesity. Post-heparin lipoprotein lipase (LPL) activity was moderately decreased, and common mutations in the LPL gene were not demonstrated by genetic screening. The apolipoprotein E phenotype was E4/4, which is known to be associated with type V hyperlipoproteinemia. Hypoadiponectinemia of 1.7 microg/ml was also revealed, which may, in part, account for the insulin resistance and decreased LPL activity. In conclusion, the clustering of apolipoprotein E4/4 and hypoadiponectinemia, in addition to insulin resistance and poor glycemic control, might have resulted in hypertriglyceridemia with eruptive xanthomatosis in this subject.
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PMID:Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. 1618 78

Eruptive xanthomas are often associated with elevated plasma levels of triglyceride-rich lipoproteins and may be a marker for occult hyperlipidemia, diabetes mellitus or pancreatitis. A 42-year-old woman presented with the acute onset of disseminated eruptive xanthomas secondary to hyperlipidemia associated with diabetes and concomitant acute pancreatitis. She improved after optimized insulin therapy and intensified treatment of hyperlipidemia. Eruptive xanthomas should be diagnosed early and lead to further metabolic evaluations.
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PMID:[Eruptive xanthomas with hypertriglyceridemia]. 1856 77

Eruptive xanthomatosis is a papular skin disorder resulting from hyperlipidemia, specifically hypertriglyceridemia. It is characterized by yellowish red papules concentrated on extensor surfaces of the arms and legs. The hyperlipidemia responsible for this disorder can be caused by a primary genetic defect, a secondary disorder, or both. Eruptive xanthomas often rapidly resolve after treatment of the hyperlipidemia has begun.
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PMID:Eruptive xanthoma: a case report. 2253 Mar 33

Severe hypertriglyceridemia can cause the deposit of lipids in the dermis (eruptive xanthomas) and in the retina (lipemia retinalis). Lipemia retinalis and eruptive xanthoma are occasionally seen in patients with diabetes mellitus and are thought to be due to abnormalities in the serum lipid fractions. Here a 15 year's old girl presented with typical symptoms of diabetes with skin lesions over hands and feet. On examination skin lesions were non-tender yellow papules with creamy-colored centers on extensor surfaces of the arms, hands and feet. Ophthalmoscopic examination showed creamy white retinal vessels with a faded pinkish white retinal back ground both in the periphery and posterior pole of the retina. Laboratory findings showed a grossly lipemic serum with markedly elevated serum levels of triglycerides 8869mg/dl cholesterol 498mg/dl. Her fasting blood glucose was 20.8mmol/l, 2 hours after breakfast was 50.5mmol/l and HbA1c was 14.6%. Eruptive xanthomas and lipaemia retinalis can occur in primary and secondary hyperlipoproteinemias, therefore a careful personal and family history as well as laboratory investigations is recommended in order to detect an underlying cause.
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PMID:Hypertriglyceridemia associated with eruptive xanthomas and lipemia retinalis in newly diagnosed diabetes mellitus. 2398 56