1/20. DALI LDL-apheresis: anticoagulation with r-hirudin in a patient with heparin-induced thrombocytopenia (HIT II).A 50-year old male patient with familial hypercholesterolemia and hyperlipoproteinemia (a), who underwent low density lipoprotein-apheresis treatment developed heparin-induced thrombocytopenia type II (HIT II). Because heparin is contraindicated in patients with HIT, an alternative LDL-apheresis system and modified anticoagulation regimen was necessary. Treatment was changed to a new system called DALI (direct adsorption of lipids). After confirmation of the diagnosis HIT II, DALI LDL-apheresis was carried out with recombinant-hirudin (lepirudin) and citrate in order to prevent hypercoagulability. Efficient LDL-apheresis therapy with minimum therapeutic blood levels of lepirudin (1.4 mg/dl) was achieved with an initial intravenous bolus of 0.114 mg/kg of lepirudin followed by continuous lepirudin infusion of 0.350 mg/h. Thrombin-antithrombin iii complex production was well controlled and other hemostatic markers showed no abnormalities. LDL-cholesterol and lipoprotein(a) concentrations were effectively reduced. R-hirudin offers a novel anticoagulation strategy and is, at present, the only alternative for patients with HIT II requiring LDL-apheresis on a regular basis.- - - - - - - - - - ranking = 1keywords = hyperlipoproteinemia (Clic here for more details about this article) |
2/20. Recurrent acute pancreatitis in a patient with type IIb hyperlipoproteinemia: a case report and review of the literature in korea.Hyperlipidemia is a rare cause of pancreatitis. It has been believed that free fatty acids released from hydrolyzed serum chylomicrons or triglycerides and chylomicrons induce hyperlipidemic pancreatitis by damaging acinar cells and capillaries. Type I, IV or V hyperlipidemic (Fredrickson's classification) pancreatitides have distinctive features of increased and heightened serum chylomicron and triglyceride levels. In contrast, type IIb hyperlipidemia usually doesn't have increased chylomicrons. It is a dominant inherited genetic disorder and doesn't manifest the subjective symptom before combining vascular complications such as coronary artery disease. Only a few cases of type IIb hyperlipidemic pancreatitis have been reported. We experienced a male patient with recurrent hyperlipidemic pancreatitis combined with type IIb hyperlipidemia. We present the case report and a review of the literature of hyperlipidemic pancreatitis, especially cases in korea.- - - - - - - - - - ranking = 4keywords = hyperlipoproteinemia (Clic here for more details about this article) |
3/20. Schnyder's crystalline corneal dystrophy in association with hyperlipoproteinemia: histopathological and ultrastructural findings.A 61-year-old man with Schnyder's crystalline corneal dystrophy showed a slight reduction in vision during 16 years of observation. plasma lipoprotein analysis done 10 years after presentation showed type IIA hyperlipoproteinemia, which was also detected in one of four siblings examined, none of whom showed the characteristic corneal dystrophy. Electron microscopic studies on corneal biopsy specimens from the patient showed abundant crystalline material and vacuoles predominantly in the superficial corneal stroma, with occasional keratocytes and rare basal epithelial cells containing laminated structures. The findings of a focal continuity between the trilaminar membrane around some of the stromal vacuoles and the plasmalemma of the keratocytes as well as dissolution of the plasmalemma in other keratocytes are consistent with the hypothesis of a local cellular role in the development of this corneal disorder.- - - - - - - - - - ranking = 5keywords = hyperlipoproteinemia (Clic here for more details about this article) |
4/20. Pseudohomozygous type II hyperlipoproteinemia.Nodular xanthomas on both elbows and a streak-like xanthoma on the intergluteal area developed in a 4-year-old girl with type IIa hyperlipoproteinemia. She had no disease associated with secondary hypercholesterolemia and no family history of hypercholesterolemia. Her xanthomas regressed under fat restriction diet and cholestyramine therapy. She was diagnosed as having pseudohomozygous type II hyperlipoproteinemia. The low-density lipoprotein (LDL) receptor activities of her cultured fibroblasts in terms of binding, internalization and degradation rate of LDL were normal. These results are consistent with a new syndrome of pseudohomozygous type II hyperlipoproteinemia and suggest that the mechanism of hypercholesterolemia, which induced xanthoma, differs from familial hypercholesterolemia.- - - - - - - - - - ranking = 7keywords = hyperlipoproteinemia (Clic here for more details about this article) |
5/20. Type IIa hyperlipoproteinemia masquerading as cerebrotendinous xanthomatosis.We describe an adult patient with type IIa hyperlipoproteinemia, presenting with achilles tendon xanthomas, cataracts, dementia, ataxia, pyramidal tract signs, and peripheral neuropathy, which are commonly seen in cerebrotendinous xanthomatosis (CTX). However, the diagnosis of CTX was excluded on the basis of the cholestanol level and the normal cholestanol/cholesterol ratio in his serum and tendon. The pathomechanism for some of the clinical manifestations in type IIa hyperlipoproteinemia and CTX might be caused by a common biochemical disturbance.- - - - - - - - - - ranking = 6keywords = hyperlipoproteinemia (Clic here for more details about this article) |
6/20. Malignant fibrous histiocytoma associated with hyperlipoproteinemia.A unique case of malignant fibrous histiocytoma arising within the thigh of a patient with Type II A (hypercholesterolemic) hyperlipoproteinemia is described. The tumor, which appeared grossly as a benign tuberous xanthoma, demonstrated pleomorphic spindled and multinucleated cells focally in the distinct storiform pattern of a malignant fibrous histiocytoma and areas composed of bland xanthoma cells associated with cholesterol deposits. Foci of xanthoma cells with mildly atypical nuclei admixed with highly pleomorphic cells were also noted. These unusual histologic features--as well as the uniform staining of all the tumor cells with anti-alpha-1-antichymotrypsin and the absence of anti-alpha-1-antitrypsin and of anti-lysozyme staining--support the conclusion that all elements of this malignant tumor were derived from a common mesenchymal precursor. The exaggerated histiocytic capability of the tumor cells in the form of xanthomatous change was probably in response to the hyperlipoproteinemic microenvironment.- - - - - - - - - - ranking = 5keywords = hyperlipoproteinemia (Clic here for more details about this article) |
7/20. family study in familial hypercholesterolemia with a receptor-negative homozygous 9-year-old boy.A 2-year-old boy showed massive xanthomas, especially tendon xanthomas and cutaneous xanthomas on the knees. When presented to us at the age of 9 years, his total cholesterol was 700-1100 mg/dl, LDL-cholesterol 600-1000 mg/dl, and triglycerides were normal, which is the constellation of hyperlipoproteinemia type IIa. LDL receptor studies showed 3% of normal binding activity, which defines the receptor-negative form of homozygous familial hypercholesterolemia (FH). Remarkably there was no sign of coronary heart disease in angiography. Three great-grandparents and the paternal grandfather (at 44 years) died from cardiovascular disease. The maternal grandmother is heterozygote for FH as well as three siblings of the father. In all family members we determined apolipoprotein B, apo-E-phenotype and the lipoprotein fraction Lp (a). In this family there seems to be no genetic coupling between the LDL receptor gene and the gene for Lp (a).- Therapy of heterozygous FH should start as early as possible, before symptoms appear. Therefore pediatricians should be very critical about the cholesterol values of their little patients.- - - - - - - - - - ranking = 1.0243571925085keywords = hyperlipoproteinemia, hyperlipoproteinemia type (Clic here for more details about this article) |
8/20. Osseous xanthomatosis and a pathologic fracture in a patient with hyperlipidemia. A case report.Osseous xanthomatosis and a pathologic fracture of the femoral neck associated with hyperlipoproteinemia occurred in a 48-year-old woman. Widely distributed skeletal lesions suggested a primary neoplasm such as malignant lymphoma or multiple myeloma; however, needle aspiration cytology of the fracture site, cutaneous manifestations, and abnormally high concentrations of lipoproteins established a diagnosis of intraosseous xanthomatosis associated with hyperlipidemia. Histologically, the excised femoral head showed a dense aggregate of lipid-laden macrophages and depletion of normal bone trabeculae. The hyperlipidemia is classified as Type IIb hyperlipoproteinemia.- - - - - - - - - - ranking = 2keywords = hyperlipoproteinemia (Clic here for more details about this article) |
9/20. Alterations in serum lipid concentrations before and after myocardial infarction in a patient with hyperlipoproteinemia and sarcoidosis--a case report.This report describes a sarcoidosis patient with a type II-b hyperlipoproteinemia who suffered acute myocardial infarction during corticosteroid therapy for sarcoidosis and whose blood lipid levels were assessed before and after the infarction. After the infarction occurred, lipoprotein analysis revealed a type II-a hyperlipoproteinemia concomitant with high free fatty acids, phospholipids, and HDL-cholesterol values; an increased ratio of total cholesterol to triglycerides; and a decreased ratio of very low density lipoproteins to total lipoproteins, suggesting that changes in types of hyperlipoproteinemia may be associated with the onset of myocardial infarction.- - - - - - - - - - ranking = 7keywords = hyperlipoproteinemia (Clic here for more details about this article) |
10/20. Internal carotid artery aneurysm: a singular anomaly.A 9-year-old Indian boy was found to have an aneurysm of the left internal carotid artery. The vessel was heavily atherosclerosed, and the distal segment of the artery was tortuous and dilated. serum lipid estimations showed the presence of type IIB hyperlipoproteinemia, with evidence of the disease in the patient's identical twin sibling and 37-year-old father. There was also a marginal increase in serum triglycerides in a 4-year-old younger brother. The patient's 29-year-old mother was unaffected. The patient had suffered hemolytic disease as a newborn, which resulted in kernicterus and subsequent mental retardation. This incident is considered to have been the result of a proven glucose-6-phosphate dehydrogenase deficiency. The aneurysm was resected and arterial continuity was ensured by using an end-to-end anastomosis. Post-operative blood flow studies showed normal flow patterns in the reconstituted artery. Postoperatively, the patient's mental performance increased dramatically; it is hypothesized that such progress is the consequence of an improvement in the blood supply to the limbic system, following the operative procedure.- - - - - - - - - - ranking = 1keywords = hyperlipoproteinemia (Clic here for more details about this article) |
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