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)

The female patient initially showed the acquired type of total lipoatrophy at about 8 years of age. At 12 years of age, the onset of diabetes mellitus was speculated from advanced pyodermia and dedentition. At 29 years of age, glucosuria was found, and she developed proteinuria, ascites, and pretibial edema. The physical examination revealed: hepatosplenomegaly, complete absence of subcutanous fat, cutaneous xanthomas, and emaciated facies with pronounced zygomatic arches. Diabetic retinopathy was revealed in the ophthalmological examination, and nephropathy was evident in renal biopsy specimens. She also had peripheral diabetic neuropathy. No adipose tissue was found in the mesenterium under peritoneoscopy. The hepatic biopsy specimen revealed advanced portal liver cirrhosis. Laboratory findings included: hyperlipidemia, elevation of BMR without evidence of hyperthyroidism, impaired renal function, and undetected anti-insulin antibodies and anti-insulin antibodies. Endocrinological examinations revealed normal value, except for an impaired hGH response in the arginine test. C-peptide immunoreactivity was high. Her condition was fairly well controlled by 140 units of insulin injection daily.
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PMID:Lipoatrophic diabetes. Report of a case. 15 92

A 21 years old female patient with lipoatrophic diabetes, a distinct syndrome of insulin resistant diabetes mellitus, loss of subcutaneous fat, hepatosplenomegaly, hyperlipidemia, increased basal metabolic rate, subvalvular aortic stenosis and cystic bone lesions is described. She exhibited all clinical signs of diabetic microangiopathy. Quantitative estimation revealed severely thickened basement membranes of muscle capillaries. It is concluded that the extent of her microangiopathy is a consequence of her excessive metabolic abnormalities.
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PMID:Muscle capillary basement membrane thickness in lipoatrophic diabetes. 59 1

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

This rare fatal disease of infants and early childhood occurred in seven children from four families. Six children died during 2-4 weeks from the beginning of disease, the last one has survived two years with cytostatic treatment. The disease was characterized by intermittent fever, hepatosplenomegaly and progressive pancytopenia as well as hyperbilirubinemia, hyperlipemia and hypofibrinogenemia. In addition to substantial enlargement of the liver and spleen prevailing autoptic findings were infectious complications due to severe immune defect or signs of hemorrhagic diathesis. Lymphocytes and histiocytes phagocytizing blood cells were increased in bone marrow, liver, spleen, often brain and further organs. Problems of differential diagnosis and pathogenesis were discussed.
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PMID:[Familial hemophagocytic lymphohistiocytosis]. 235 Aug 12

Fat overload syndrome is a rare complication of intravenous fat emulsion therapy. It is characterized by sudden elevation of the serum triglyceride level, fever, hepatosplenomegaly, coagulopathy, and variable end-organ dysfunction. The illness is generally discrete, and symptoms regress as the lipemia clears. The transient nature of the syndrome has allowed only speculation as to its pathogenesis. The authors report an autopsy study of a child who died during an acute episode of fat overload and document the causative role of fat sludging in the associated end-organ failure. In addition, they offer evidence that the coagulopathy, previously an enigma, results from primary fibrinolysis, possibly caused by release of tissue plasminogen activators from the damaged endothelial cells.
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PMID:Fat overload syndrome. An autopsy study with evaluation of the coagulopathy. 339 63

Familial erythrophagocytic lymphohistiocytosis, a rare disorder affecting infants, is characterized by a visceral infiltration of histiocytes and lymphocytes resulting in rapid death. It has recently been reported that use of epipodophyllotoxin, VP 16-213, could induce a complete remission of the disease. Such treatment does not, however, prevent fatal CNS relapse. Four patients with the characteristic features of the disease--fever, hepatosplenomegaly, pancytopenia, low plasmatic fibrinogen level, hyperlipidemia, and histiocytic meningitis--are described. These patients were treated with a combination therapy including systemic administration of VP 16-213, steroids, and intrathecal methotrexate followed by cranial irradiation after the age of 12 months. The four patients achieved complete remission of the disease after clearing of the CNS localization. Two patients had secondary relapses, but all four patients have had a disease-free survival exceeding 12 months. All patients have been in remission of the disease for 27, 20, 16, and 13 months, respectively, after disease onset without major setbacks from the treatment. This combination therapy appears to be a promising approach toward long-term remission of the disease.
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PMID:Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate, and cranial irradiation. 383 78

1. GSD-I is described in a child with partial deficiency of hepatic glucose-6-phosphatase. 2. Growth retardation and hepatosplenomegaly were major clinical features. 3. Hyperlipidaemia, lactic acidaemia, hyperuricaemia and reduced uric acid clearance were major biochemical findings. 4. Although the glucose response to glucagon and galactose was impaired, there was a striking absence of hypoglycaemia which may be attributable to residual catalytic activity of the enzyme. 5. Preliminary studies of the crude liver enzyme showed it to have a normal pH inactivation profile and apparent Km with a reduced Vmax. 6. No evidence of increased PP-ribose-P availability in fresh liver tissue was detected. 7. Continuous glucose feeding resulted in accelerated growth without complete correction of lactic acidosis or hyperuricaemia. 8. GSD-I with partial deficiency of hepatic glucose-6-phosphatase should be considered in patients with gout or hyperuricaemia associated with hypertriglyceridaemia and lactic acidaemia even in the absence of hypoglycaemia.
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PMID:Clinical and enzymological studies in a child with type I glycogen storage disease associated with partial deficiency of hepatic glucose-6-phosphatase. 615 47

Type V hyperlipoproteinemia (HLP) is characterized clinically by hepatosplenomegaly, occasional eruptive xanthomas, and an increased incidence of pancreatitis. These patients have striking hypertriglyceridemia due to increased plasma chylomicron and very low density lipoprotein concentrations in the fasting state, without a deficiency of lipoprotein lipase or its activator protein, apolipoprotein (apo) C-II. ApoE, a protein constituent of triglyceride-rich lipoproteins, has been implicated in the receptor-mediated hepatic uptake of these particles. ApoE has three major alleles: E2, E3, and E4, and the products of these alleles are apoE2, apoE3, and apoE4, respectively. ApoE phenotypes were determined in 30 type V HLP patients as well as in 37 normal volunteers. Among the type V patients, 33.3% were noted to be homozygous, and 40.0% heterozygous for E4 (normal, 2.7 and 21.6%, respectively). These data suggest that apoE4 may play a role in the etiology of the hyperlipidemia in a significant number of type V HLP patients.
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PMID:Increased prevalence of apolipoprotein E4 in type V hyperlipoproteinemia. 709 73

A 2 1/2-month-old infant suffering from pyrexia, purpura, hepatosplenomegaly, pancytopenia and hyperlipidemia is reported. Liver and spleen biopsies revealed mononuclear histiocytic infiltration with marked erythrophagocytosis. The girl died at 7 1/2 months of age. Her brother died in infancy with an analogous clinical picture. The parents were first cousins. The clinical presentation and laboratory findings are consistent with the diagnosis of familial erythrophagocytic lymphohistiocytosis.
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PMID:Familial erythrophagocytic lymphohistiocytosis in infancy. 722 96

Lymphohistiocytic reticulosis with phagocytosis is a rare, familial disorder affecting infants and children. It is characterized by fever, pancytopenia, hepatosplenomegaly, and a rapidly fatal course. Prior attempts to treat this disease have been unsuccessful. We describe two patients with lymphohistiocytic reticulosis with phagocytosis and hyperlipidemia. A sibling of one patient had died of the same disease. One patient also had abnormal lymphocyte response to mitogens. Both patients who were treated with epipodophyllotoxin VP 16-213 (VP-16) had remission of their disease and resolution of hyperlipidemia. VP-16 appears to be an effective agent for treating lymphohistiocytic reticulosis with phagocytosis.
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PMID:Successful treatment of lymphohistiocytic reticulosis with phagocytosis with epipodophyllotoxin VP 16-213. 737 87


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