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

A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations, however, revealed obesity, short stature, minor anomalies of the fingers, many areas of hyperpigmentation on the trunk and the hips, hypergonadotropinemia, diabetes mellitus, liver dysfunction, and hyperlipidemia. The ratios of normal/trisomy 18 were 4:135 in blood lymphocytes, 3:11 in a hyperpigmented area of the skin, 20:0 in a normally pigmented area of the skin, and 14:6 in ascitic cells. Laparoscopy revealed that her ovaries contained neither follicles nor germ cells.
 ...
PMID:Trisomy 18 mosaicism associated with secondary amenorrhea: ratios of mosaicism in different samples and complications. 874 Sep 20

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.
 ...
PMID:Diabetic lipemia with eruptive xanthomatosis in a lean young female with apolipoprotein E4/4. 1618 78

We report on sporadic cases that have the proposed diagnostic criteria for Cohen syndrome associated with metabolic syndrome. The patients, aged 14 and 16 years, had truncal obesity, mild mental retardation, hypotonia, narrow hands and feet, a high-arched palate, prominent upper central incisors, a high nasal bridge, and ocular abnormalities. Both had impaired glucose tolerance, with marked hyperinsulinemia exhibited by an oral glucose tolerance test. Moreover, they had the other metabolic syndrome features of hyperlipidemia and hypertension. We suggest that it is necessary to consider the possibility of metabolic syndrome in a case of Cohen syndrome.
 ...
PMID:Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. 1694 45