1/9. Cellular pathology of homozygous familial hypercholesterolemia.tissues were studied from four subjects with homozygous familial hypercholesterolemia (FH). The specimens consisted of tissues obtained from a 20-week-old fetus at autopsy, samples from a 9-year-old girl during open-heart surgery, and biopsies of cutaneous xanthomas from a 13-year-old girl and a 21-year-old man. The FH fetus, but not the 3 control fetuses, exhibited multifocal lipid deposition particularly involving the stromal cells of the thymus, spleen, and skin and both the stromal and parenchymal cells of the kidney. Only one minute focus of intimal lipid accumulation was found in the aorta and coronary arteries of the FH fetus. A segment of the ascending aorta from the 9-year-old girl showed: 1) foam-cell transformation of many medial smooth-muscle cells, 2) abnormal vascularization of the inner media and intima, and 3) intimal involvement by a typical artherosclerotic plaque with lipid deposits in thin, elongated cells that showed some myocytic features and in foam cells that lacked such features. The mitral and aortic valves of this patient also contained numerous foam cells and showed mild to moderate fibrous thickening. A segment of the saphenous vein, however, contained no lipid deposits. The three xanthomas from two FH homozygotes exhibited marked lipid accumulation in histiocytic foam cells but no lipid deposits in the endothelium of blood vessels in the lesions. The findings in this study, in conjunction with those reported in studies of other FH homozygotes, indicate that homozygous FH is characterized by accelerated atherosclerosis and prominent lipid accumulation in macrophages and other stromal cells of the aortic and mitral valves, skin, tendon, and, varibly, in other extravascular sites. Since most of the intracellular lipid was in the form of non-membrane-bound neutral lipid droplets, it appears that the cytoplasm is the major site of lipid storage in this disease.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/9. Effectiveness of long-term heparin-induced extracorporeal LDL precipitation (HELP) in improving coronary calcifications.There is clear clinical evidence that a drastic lowering of plasma LDL-Cholesterol (LDL) concentrations significantly reduces the rate of total and coronary mortality as well as the incidence of cardiovascular events in high risk hypercholesterolemic patients. We describe the case of a 51-year-old woman with coronary heart disease (CHD) who presented with increasing angina on exertion in 1995, at the age of 45. She suffered from a heterozygous familial hypercholesterolemia and in 1985 her total cholesterol (TCHO) was 328 /- 62 mg/dl (mean value of ten analysis). After ten years of statins her mean values (20 analysis, 2 per year) were: TCHO 259 /- 71, LDL 209 /- 47, HDL 35 /- 7 mg/dl. coronary angiography (CA) performed in 1995 disclosed three vessel coronary heart disease with significant stenoses of the distal right coronary artery, multiple calcifications of the interventricularis artery and multiple plaques with significant stenoses in the ramus circumflexus. The woman underwent coronary by-pass surgery. Thereafter the patient was treated for six years with HELP in biweekly intervals, in combination with statins. TCHO, LDL, HDL and fibrinogen (fb) levels were measured before and after each treatment. Their mean values for an amount of 120 sessions were: TCHO pre 216 /- 23, post 111 /- 18 LDL pre 152 /- 16 post 67 /- 18, HDL pre 42 /- 5 post 35 /- 4 fb pre 306 /- 48 post 125 /- 31. In 2001 a new CA was performed. Calcifications disappeared and stenoses were identical to the previous CA or reduced. There were no further clinical manifestations of CHD. We trust that the clinical benefit of the HELP procedure will be substantial for those patients who have problems in clearing LDL from their plasma pool and who are at the same time sensitive to elevated LDL levels by the development of premature coronary sclerosis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/9. A pedigree analysis of familial hypercholesterolemia in monozygote twin brothers.The current study was designed to investigate the features of a family with familial hypercholesterolemia (FH). Twenty members of 3 generations in a family with hypercholesterolemia were enrolled in the study. The data collected were from clinical observation and subjected to pedigree analysis. The proband was a 41-year-old male who suffered from angina pectoris with multi-vessel stenosis of coronary arteries at the age of 40. Among 20 members, 8 individuals had FH in this family with a total incidence of 40% (54.5% [6/11] in male and 22.2% [2/9] in female). The serum total cholesterol level was increased in childhood from 7.1 to 10.8 mmol/L and tended to increase with increasing age. In addition, the level of total cholesterol was increased in monozygote twin brothers and their offspring in the family. This pedigree analysis showed that FH appears to be a hereditary disease of autosomal dominance, and attention should be paid, especially in the only son or daughter society of china.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/9. Rare association of diffused coronary ectasia and anomalous origin of left circumflex coronary artery in a man with heterozygous familial hypercholesterolemia: a case report.Coronary artery ectasia (CAE) is an uncommon form of coronary artery disease. It has been reported in association with a variety of pathological conditions, such as isolated congenital heart disease and Kawasaki disease. CAE is more relevant in young adults with multiple predisposing risk factors, especially familial hypercholesterolemia, and is usually considered a form of atherosclerotic coronary artery disease. A case of CAE is reported with familial hypercholesterolemia and diffuse ectasia of the coronary vessels in association with anomalous origin of the left circumflex coronary artery, which lacked ectatic segments. This combination has not been reported previously.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/9. Triple coronary bypass in a child with homozygous familial hypercholesterolemia.Here we report triple coronary bypass procedure in a 12-year-old girl with familial homozygous hypercholesterolemia and extensive coronary atherosclerosis. She had successful cardiopulmonary resuscitation at home by her father 4 months before the operation. Total cholesterol level was 1300 mg/dL initially without antilipidemic treatment. Extensive three vessel disease with right coronary proximal stenosis and left coronary ostial stenoses was determined by angiography. Left internal thoracic artery, left radial artery, and saphenous vein grafts were used for coronary revascularization. saphenous vein graft to right posterior descending artery, radial artery graft to obtuse marginal artery, and LITA to left anterior descending artery anastomoses were performed consecutively. Ten months after the operation, she is in good condition under intensive antilipidemic therapy and weekly lipid apheresis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/9. Familial hypercholesterolemia in a paediatric patient.A case of familial hypercholesterolemia (homozygous) leading to coronary artery disease by the age of 10 years is presented in view of its rarity. Besides different xathomatous eruptions, the child was also having overt angina and was treated with coronary artery bypass grafting to the diseased vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/9. plasma exchange in a patient with heterozygous familial hypercholesterolaemia resistant to drug therapy.A 40-year-old male with heterozygous familial hypercholesterolaemia was resistant to combined drug treatment with cholestyramine and nicotinic acid in adequate doses. He had angina pectoris and evidence of three vessel disease in the coronary angiogram. Repeated plasma exchange at intervals of 1-3 weeks simultaneously with combined drug treatment decreased the plasma cholesterol levels by nearly 40%. There were also signs of regression of xanthomata and some improvement of his angina pectoris. No progression of atherosclerosis was seen angiographically after two years treatment. plasma exchange may be a therapeutic alternative in drug-resistant familial hypercholesterolaemia.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/9. 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 = vessel (Clic here for more details about this article) |
9/9. Regression of coronary atherosclerosis and amelioration of renal function during LDL-immunoadsorption therapy in a renal transplant recipient.Hyperlipoproteinemia is frequently observed in patients after renal transplantation and contributes to cardiovascular morbidity and mortality. In addition, it was recently shown that hypercholesterolemia accelerates the progression of renal disease. In a renal transplant recipient (RTR) with severe coronary heart disease, familial hypercholesterolemia and decreased renal function, immunospecific LDL-apheresis was instituted since dietary restrictions failed to sufficiently improve hyperlipoproteinemia and medication had to be avoided due to drug interactions. Over a period of 36 months 145 LDL-apheresis treatments were performed at weekly intervals. The desorption of 5600 ml plasma volume allowed a mean reduction of total cholesterol by 56.6% (from 256 mg/dl to 110 mg/dl), of LDL-cholesterol by 63.0% (from 163 mg/dl to 58 mg/dl), of Lp(a) by 68.3% (from 34 mg/dl to 11 mg/dl) and of triglycerides by 49.6% (from 332 mg/dl to 163 mg/dl). Although temporarily decreasing during each apheresis session by 9.0%, HDL-cholesterol values increased during the first 9 months of treatment and remained within the normal range (> 45 mg/dl) thereafter. cyclosporine A blood trough values were decreased by 32% during LDL-apheresis. Symptoms of angina pectoris rapidly improved and disappeared after 8 months of apheresis treatment. Initial coronary angiography exhibited serious three-vessel-disease, without the possibility of bypass grafting. coronary angiography repeated after two years of therapy showed a regression of the disease. serum creatinine levels declined during treatment (from 2.7 mg/dl to 1.8 mg/dl) and proteinuria did not increase further. This is the first report to show that long-term LDL-immunoadsorption is a safe and highly effective treatment of severe hyperlipidemia and coronary heart disease in a RTR, resulting in regression of vascular pathology. Moreover, amelioration of hyperlipidemia may have improved transplant function. Multicenter studies are necessary to confirm our results.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |