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 present a case of a 43-year-old Japanese man with heterozygous familial hypercholesterolemia (FH) with severely elevated serum triglycerides (TG). He drank large quantities of alcohol but had no endocrinological disorder or diabetes mellitus. He had a recurrent, acute pancreatitis. His fasting serum total cholesterol (TC), TG, and HDL-C levels and an apolipoprotein E genotype of E3/E3 suggested a diagnosis of type V hyperlipidemia. Yet, the patient had bilateral Achilles tendinous xanthomata, which prompted us to conduct a gene analysis for the LDL receptor, and this revealed the heterozygous form of the 317 cysteine to serine mutation, demonstrating that this was a case of FH. We recommend that physicians consider the existence of FH, even in hyperlipidemic subjects with lipid profiles far from those typical of FH, whenever a patient has tendinous xanthomata.
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PMID:Severely elevated serum triglycerides in a case of heterozygous familial hypercholesterolemia with the 317 cysteine to serine mutation in the LDL receptor gene. 1596 38

A 61-year-old man was diagnosed with obesity, diabetes mellitus, and hyperlipidemia associated with insulin resistance in 1988. His condition was complicated with asymptomatic coronary artery disease in 1992. His coronary artery disease gradually progressed during the subsequent 13 years of observation, and he underwent percutaneous coronary intervention four times and also received a coronary artery bypass graft. This is a case of metabolic syndrome with multiple risk factors for arteriosclerosis as visceral obesity, insulin resistance, diabetes, hypertension and hyperlipidemia, in which the recent rapid progression of coronary artery disease might be associated with the discontinuation of statin after coronary artery bypass graft, accompanied with hyper-LDL-choleterolemia. Patients with metabolic syndrome require most comprehensive and strict therapies against multiple risk factors.
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PMID:[A case of metabolic syndrome with coronary artery disease advanced over 13 years. Case report]. 1631 76

Laryngeal necrosis is a serious complication that usually occurs within the first year following completion of radiotherapy, although it is reported that cases can develop after a long period of latency. Factors such as dosage and irradiation technique employed, tumour invasion into the laryngeal cartilage, infection, continued smoking, trauma and general vascular condition of the patient have been considered to increase the rate and degree of development of radionecrosis. We report an unusual case of laryngeal radionecrosis in a patient with hypertension, hyperlipidaemia, diabetes and a history of cigarette smoking, which developed 25 years after radiotherapy for laryngeal carcinoma. His systemic illnesses and continued smoking were speculated to have contributed to the progress of the radionecrosis, suggesting that cessation of smoking and control of arteriosclerotic diseases should be considered to decrease its incidence.
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PMID:Late laryngeal radionecrosis in severe arteriosclerosis. 1635 49

A 47-year-old white male came to the hospital emergency department complaining of chest pain. At admission, it was noted that the patient had numerous lesions on his buttocks, abdomen, back, and all extremities. These lesions had been there for approximately 5 months--they developed after he discontinued his cholesterol medication due to lapsed insurance coverage. He had a similar eruption when he went off cholesterol medication on another occasion. The patient's medical history included type 2 diabetes mellitus, hypertension, coronary artery disease, and hyperlipidemia. He has had multiple heart catheterizations with stent placement, most recently 2 years ago. His mother also had diabetes mellitus, and she died at age 58 from a myocardial infarction. On examination, his lesions were painless and nonpruritic. He had numerous yellow papules on his buttocks, abdomen, back, and upper and lower extremities. He had no lesions on his face. The rest of the physical exam showed no abnormal results. What is your diagnosis? What laboratory tests should be done to help make the diagnosis?
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PMID:A 47-year-old man with eruptions on his trunk. 1682 46

Myelolipoma within an adrenal cortical adenoma is a very rare cause of adrenal incidentaloma, and only nine cases have been reported in the English and Japanese literature. We report a 66-year-old Chinese man, with a history of hypertension and hyperlipidaemia, who presented with lower limb oedema and had a computed tomography (CT ) of the abdomen done to exclude intra-abdominal mass. His lower limb symptoms resolved after switching his antihypertensive medication. CT of the abdomen showed a large heterogeneously-enhancing mass in the left suprarenal region, measuring 72 mm by 55 mm. Clinical history, physical examination and laboratory results did not show any evidence to suggest metabolic disorder such as Cushing's syndrome, hyperaldosteronism or catecholamine hypersecretion. The patient underwent a left adrenalectomy, and a histopathological study confirmed the mass to be a non-functional adrenal cortical adenoma containing myelolipoma. The patient was well postoperatively and was discharged uneventfully. To the best of our knowledge, this is the first non-functional adrenal cortical adenoma reported; in the nine cases of myelolipoma within an adrenal cortical adenoma reported previously, all the patients had Cushing's syndrome. The literature on synchronous myelolipoma with adrenal adenoma, and myelolipoma within functional adrenal adenoma, is reviewed.
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PMID:Myelolipoma within a non-functional adrenal cortical adenoma. 1760 15

A 60-year-old man presented to the Emergency Department (ED) with large, painful, indurated plaques on the right thigh, left abdomen, left chest, and right chest, which began without any preceding trauma on the right thigh 3 weeks prior to presentation in the ED. He was initially treated with cefazolin 1 g three times daily as home infusions. When the lesions continued to progress, he was admitted to the hospital and placed on amoxicillin/clavulanate and vancomycin. He had a single episode of fever of 102 degrees F, but his white blood cell count and differential remained normal. An initial biopsy showed a dermal inflammatory infiltrate composed primarily of neutrophils and eosinophils with rare flame figures in the dermis. There was minimal fat seen in this biopsy. A differential diagnosis of Wells or Sweet's syndrome was entertained, and he was placed on 60 mg/day prednisone with no resolution of his symptoms. The patient's past medical history included hypertension, hyperlipidemia, peripheral neuropathy, and hiatal hernia. His family history was significant for emphysema in both parents and coronary artery disease in his father. Both of his parents smoked cigarettes. His grandfather, who was a coal miner, also had emphysema. Whilst on antibiotics and prednisone, the plaques on the patient's right thigh, right abdomen, and left chest expanded and ulcerated, draining an oily liquid (Figs 1 and 2). An incisional biopsy was obtained from his thigh. Histopathology showed a septal and lobular panniculitis with fat necrosis, neutrophils, and histiocytes (Fig. 3). Special stains for organisms were negative. Tissue sent for bacterial and fungal culture had no growth. Amylase and lipase levels were normal. Rheumatoid factor, antinuclear antibody (ANA), antineutrophil cytoplasmic antibody (ANCA), cryoglobulins, and antiphospholipid antibodies were all normal. The alpha1-antitrypsin level was low at 25 mg/dL (ref. 75-135). The alpha1-antitrypsin phenotype was PiZZ. The patient had a normal glucose-6-phosphate dehydrogenase level and was placed on dapsone 200 mg/day. The inflammation resolved and, over the course of several months, the involved areas healed with scarring. The patient denied any pulmonary complaints but, during his hospitalization, was found incidentally to have an oxygen saturation of 88% on room air. He was sent for evaluation by a pulmonologist, and pulmonary function tests revealed a mixed restrictive and obstructive pattern with a forced expiratory volume in 1 to forced vital capacity (FEV(1)/FVC) ratio of 63% of predicted. He had never smoked. He was placed on supplemental oxygen but, as his pulmonary disease has been stable, he has not been treated with intravenous antitrypsin inhibitor.
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PMID:alpha1-Antitrypsin deficiency presenting with panniculitis and incidental discovery of chronic obstructive pulmonary disease. 1791 Jul 20

A new liquid chromatography-tandem mass spectrometric (LC-MS/MS) approach, based on the precursor ion scanning technique using a triple-stage quadrupole, has been developed to detect free and protein-bound histidine (His) residues modified by reactive carbonyl species (RCS) generated by lipid peroxidation. This approach has been applied to urines from Zucker obese rats, a nondiabetic animal model characterized by obesity and hyperlipidemia, where RCS formation plays a key role in the development of renal and cardiac dysfunction. The immonium ion of His at m/z 110 was used as a specific product ion of His-containing peptides to generate precursor ion spectra, followed by MS2 acquisitions of each precursor ion of interest for structural characterization. By this approach, three novel adducts, which are excreted in free form only, have been identified, two of them originating from the conjugation of 4-hydroxy-trans-2-nonenal (HNE) to His, followed by reduction/oxidation of the aldehyde: His-1,4-dihydroxynonane (His-DHN), His-4-hydroxynonanoic acid (His-HNA), and carnosine-HNE, this last recognized in previous in vitro studies as a new potential biomarker of carbonyl stress. No free His-HNE was found in urines, which was detected only in protein hydrolysates. The same LC-MS/MS method, working in multiple reaction monitoring (MRM) mode, has been developed, validated, and applied to quantitatively profile in Zucker urines both conventional (1,4-dihydroxynonane mercapturic acid, DHN-MA) and the newly identified adducts, except His-HNA. The analytes were separated on a C12 reversed-phase column by gradient elution from 100% A (water containing 5 mM nonafluoropentanoic acid) to 80% B (acetonitrile) in 24 min at a flow rate of 0.2 mL/min and analyzed for quantification in MRM mode by applying the following precursor-to-product ion transitions m/z 322.2 --> 164.1 + 130.1 (DHN-MA), m/z 314.7 --> 268.2 + 110.1 (His-DHN), m/z 312.2 --> 110.1 + 156.0 (His-HNE), m/z 383.1 --> 266.2 + 110.1 (CAR-HNE), m/z 319.2 --> 301.6 + 156.5 (H-Tyr-His-OH, internal standard). Precision and accuracy data, as well as the lower limits of quantification in urine, were highly satisfactory (from 0.01 nmol/mL for CAR-HNE, His-DHN, His-HNE, to 0.075 nmol/mL for DHN-MA). The method, applied to evaluate for the first time the advanced lipoxidation end products profile in urine from obese Zucker rats, an animal model for the metabolic syndrome, has proved to be suitable and sensitive enough for testing in vivo the carbonyl quenching ability of newly developed RCS sequestering agents.
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PMID:HNE Michael adducts to histidine and histidine-containing peptides as biomarkers of lipid-derived carbonyl stress in urines: LC-MS/MS profiling in Zucker obese rats. 1797 57

We describe a patient with previously undiagnosed hypothyroidism who developed rhabdomyolysis while taking a statin. He had no other precipitating factors. The statin was stopped, intravenous fluids were started immediately and L-thyroxin was given after confirming the diagnosis of hypothyroidism. His symptoms improved over a few days. Because rhabdomyolysis is a rare but potentially life threatening disorder when complicated by acute tubular necrosis and renal failure, physicians must pay special attention when starting statins in patients with hyperlipidemia.
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PMID:Rhabdomyolysis due to the additive effect of statin therapy and hypothyroidism: a case report. 1799 11

We report the case of a 32-year-old man who presented at the emergency department with severe chest pressure, left arm pain, and dizziness. These symptoms were described as intermittent, occurring after exercise and at rest. He had undergone several stress tests during the past 8 years, but no objective evidence of ischemia was produced. His history of hyperlipidemia and increasing frequency of symptoms prompted us to perform coronary angiography, which showed a single coronary artery with an ostium at the right sinus of Valsalva. The vessel had an initial, mixed common trunk that gave rise to both the right coronary artery proper and to the left coronary artery. The left main trunk followed a prepulmonic course. The anatomic features were eventually confirmed by computed tomographic angiography. The left main stem had a fixed 50% to 60% area narrowing, at baseline study. A treadmill stress myocardial perfusion study showed no evidence of ischemia. The patient was referred to a 2nd facility, where intravascular ultrasonography, at baseline, revealed 63% left main narrowing without evidence of atherosclerosis. Acetylcholine provocation demonstrated worsening of the stenosis to about 80%, with reproduction of angina and ST-segment depression, which indicated that medical management of spasm might provide symptomatic relief.
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PMID:Single coronary artery with prepulmonic coursing left main coronary artery manifesting as prinzmetal's angina. 1817 28

Angiopoietin-like 3 (ANGPTL3) and angiopoietin-like 4 (ANGPTL4) are secreted proteins that regulate triglyceride (TG) metabolism in part by inhibiting lipoprotein lipase (LPL). Recently, we showed that treatment of wild-type mice with monoclonal antibody (mAb) 14D12, specific for ANGPTL4, recapitulated the Angptl4 knock-out (-/-) mouse phenotype of reduced serum TG levels. In the present study, we mapped the region of mouse ANGPTL4 recognized by mAb 14D12 to amino acids Gln(29)-His(53), which we designate as specific epitope 1 (SE1). The 14D12 mAb prevented binding of ANGPTL4 with LPL, consistent with its ability to neutralize the LPL-inhibitory activity of ANGPTL4. Alignment of all angiopoietin family members revealed that a sequence similar to ANGPTL4 SE1 was present only in ANGPTL3, corresponding to amino acids Glu(32)-His(55). We produced a mouse mAb against this SE1-like region in ANGPTL3. This mAb, designated 5.50.3, inhibited the binding of ANGPTL3 to LPL and neutralized ANGPTL3-mediated inhibition of LPL activity in vitro. Treatment of wild-type as well as hyperlipidemic mice with mAb 5.50.3 resulted in reduced serum TG levels, recapitulating the lipid phenotype found in Angptl3(-/-) mice. These results show that the SE1 region of ANGPTL3 and ANGPTL4 functions as a domain important for binding LPL and inhibiting its activity in vitro and in vivo. Moreover, these results demonstrate that therapeutic antibodies that neutralize ANGPTL4 and ANGPTL3 may be useful for treatment of some forms of hyperlipidemia.
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PMID:Identification of a new functional domain in angiopoietin-like 3 (ANGPTL3) and angiopoietin-like 4 (ANGPTL4) involved in binding and inhibition of lipoprotein lipase (LPL). 1931 55


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