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1/12. Coronary ectasia in familial hypercholesterolemia: histopathologic study regarding matrix metalloproteinases.

    A 39-year-old male heterozygous familial hypercholesterolemia patient with marked ectasia over the entire coronary artery tree had been treated with several kinds of lipid-lowering single or combined drug therapies using clofibrate, compactin, cholestyramine, probucol, and pravastatin, and LDL-apheresis. During the 19-year follow-up, he suffered myocardial infarction three times and some of the ectatic coronary segments became enlarged, others narrowed, and one of them occluded in spite of the treatment. At the age of 58, he died after a fourth cardiac attack and subsequent cardiogenic shock. The autopsy indicated that his three coronary arteries showed diffuse ectatic changes and the largest lumen diameter of the left anterior descending artery was 25 mm, of the circumflex artery 12 mm, and of the right coronary artery 13 mm. The ectatic artery wall was not thick and the major part of the lumen was occupied by organized thrombi. Microscopic examinations showed that the larger the diameter of the lumen, the more severe the structural damage of the intima and tunica media and the larger the number of infiltrated cells, including lymphocytes, macrophages, and plasma cells. Immunoreactivity against matrix metalloproteinase (MMP)-1, and MMP-2 was observed in smooth muscle cells, macrophages, lymphocytes, and endothelial cells of the vasa vasorum or neovasculature. MMP-9 immunoreactivity was also localized in intimal foamy macrophages and round cells (macrophages and lymphocytes) of the media and adventitia. MMP-1 increased with the lumen diameter of the ectatic arteries. The ratio of immunoreactivity against both MMP-2 and MMP-9 to that against tissue inhibitor of metalloproteinase (TIMP)-2 also increased with the lumen diameter, but it no longer increased when the diameter was over 10 mm. These observations suggest that the MMP-TIMP system appears to play a significant role in the development of coronary ectasia
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2/12. testis - a novel storage site in human cholesteryl ester storage disease. autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma.

    A case of long-standing subclinical cholesteryl ester storage disease (CESD) manifesting as hyperlipoproteinaemia type IIb without any hepatomegaly is described. The patient underwent surgical vascular interventions because of accelerated atherosclerosis, which dominated his middle age. CESD was an incidental finding when a liver biopsy specimen was taken because liver malignancy was suspected; the patient's condition proved to be due to a cholangiocarcinoma, which led to his death at the of age 52. The autopsy showed moderate-intensity storage in the set of cells characterized by constitutional high-level receptor-mediated LDL endocytosis (hepatocytes, adrenal cortical cells) and also revealed storage in the leydig cells. The severity with which histiocytes were affected varied regionally, ranging from minimal detectable storage or none at all (gut, lymph nodes, spleen) to extreme lysosomal expansion by cholesteryl ester liquid crystals (bone marrow) or by ceroid (lung, testicular stroma), or by both (liver). The density of the histiocytic population did not correlate with the degree to which parenchymal cells were affected except in the testicular stroma, where it was prominent. The patient was a mixed heterozygote for the G934A and DeltaC(673-5) mutations.
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3/12. Extensive intracranial xanthoma associated with type II hyperlipidemia.

    Xanthomas are associated with a spectrum of medical conditions, most commonly disorders of lipid storage and lipid metabolism. They occur primarily in the subcutaneous tissues, especially along the achilles tendon and the extensor tendons of the hands. Intracranial xanthomas are extremely rare. We present a case of an extensive xanthoma of the temporal bone in a patient with hyperlipidemia.
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4/12. 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.
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5/12. Xanthoma of bone: first sign of hyperlipidemia type IIB: a case report.

    A xanthoma, located in the ulna, not accompanied by the traditional cutaneous and tendinous manifestations (xanthoma and xanthelasma) and with a late onset of alterations in lipid values, was diagnosed in a 56-year-old man. The lesion had a slow but constant growth leading to internal calcifications. Hyperlipidemia Type IIB occurred 15 years after the xanthoma first was detected by radiographs. Therefore, in this patient, xanthoma of bone was the first sign of dyslipidemia.
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6/12. Homozygous familial hypercholesterolemia: specific indication for domino liver transplantation.

    BACKGROUND: Domino liver transplantation is one possibility to overcome the discrepancy between the small number of liver donors and the long waiting lists. Homozygous familial hypercholesterolemia (FHC) is a genetic disorder of lipoprotein metabolism defined by the absence or small number of functional low-density lipoprotein receptors (LDL-Rs) and the ensuing high levels of serum cholesterol. We report a case of a patient with FHC whose liver was used for domino transplantation in a patient with cirrhosis and hepatocellular carcinoma. methods: The patient diagnosed with FHC received the large part of a split liver. The liver of the patient with FHC was then transplanted into the patient with cirrhosis and hepatocellular carcinoma. Quantification of extrahepatic LDL-R was performed by flow cytometry on monocytes, and the gene expression of LDL-R was assayed by reverse transcriptase-polymerase chain reaction on monocyte-derived macrophages and cultured fibroblasts isolated from the patients. RESULTS: One year after surgery, the donor's serum cholesterol (without treatment) was normal, and the recipient's serum cholesterol (with simvastatin treatment) was slightly increased. Quantification of peripheral LDL-R on monocytes isolated from the patients revealed values of 6.7% in the patient with FHC and 71% in the patient with cirrhosis and hepatocellular carcinoma. The reverse transcriptase-polymerase chain reaction assay revealed the presence of gene expression for LDL-R. CONCLUSIONS: Domino transplantation can be efficiently used in a patient with marginal indications for transplantation using a liver from a patient with FHC. The slightly elevated serum cholesterol level in the recipient may be explained by the normal function of extrahepatic LDL-R.
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7/12. Non-macrophage-related accumulation of cholesterol during probucol treatment in familial hypercholesterolemia: report of two cases.

    Two patients receiving long-term (3-4 years) treatment with probucol for familial hypercholesterolemia (FH) developed diffuse yellow lesions over the upper eyelids suggesting lipid storage in those tissues (diffuse lipid-storage lesions). Interestingly, each patient had shown a substantial reduction in their cholesterol levels together with a marked regression of their tendon xanthomas or typical xanthelasmas during treatment. To evaluate the role of probucol in this unusual finding we conducted histological and immunochemical evaluations of the lesions (removed surgically) and compared them with those of a non-probucol-treated subject with FH and typical audinal xanthelasma. In both probucol-treated patients the lesions were filled with foam cells and contained large amounts of cholesteryl ester. However, immunochemical analysis of the lesions of one patient using anti-monocyte monoclonal antibody (HAM56) demonstrated that they were not composed of macrophage-derived foam cells in contrast to those of the non-probucol-treated subject which stained clearly with anti-monocyte monoclonal antibody. In each case the foam cells did not react with muscle-actin-specific monoclonal antibody (HHF35). It appears that non-macrophage-related diffuse lipid-storage lesions may occur even during treatment with probucol despite the reduction in cholesterol levels and the regression of xanthomas, suggesting that probucol may alter the distribution of cholesterol from the macrophage to other cells.
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8/12. Familial hypercholesterolemia presenting as intracranial xanthoma.

    A 22 years female who was diagnosed as having cholestseatoma of right ear was referred to us for medical fitness. On examination she incidentally had evidence of tuberous and tendon xanthomas. She was found to have hypercholesterolemia. On mastoid exploration a yellowish groomous mass was seen which was surrounded by foamy macrophages, suggestive of 'mastoid xanthoma'. The purpose of this case presentation is to report occurrence of such rare case and importance of early detection that will warrant treatment with proper diet and medical management. This will stabilize lesions and delay complications.
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keywords = macrophage
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9/12. 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.
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ranking = 0.2500851383748
keywords = macrophage, bone
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10/12. Familial hypercholesterolemia with unusual foamy histiocytes. Report of a case with myelophthisic anemia and xanthoma of the maxillary sinus.

    Accumulation of phagocytic histiocytes with a foam cell morphology has been described in a number of diseases. Familial hypercholesterolemia, one such disease, is characterized by foamy histiocytic accumulation in cutaneous or tendinous xanthomas and within atheromatous lesions. This report describes a patient with familial hypercholesterolemia who had two unusual manifestations of foamy histiocytic accumulation: a maxillary sinus xanthoma, which presented as an expansile mass, and diffuse bone marrow replacement with foamy histiocytes, which was associated with myelophthisic anemia. The accumulation of foamy cells in both locations resembled that seen in many of the storage diseases. The possibility of foamy histiocytic accumulation should be considered in the differential diagnosis of patients with these disease entities who present with space-occupying lesions.
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ranking = 8.5138374798803E-5
keywords = bone
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