Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
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Cardiovascular manifestations develop in the majority of SLE patients at some time during the course of their illness, the most common being acute fibrinous pericarditis and pericardial effusion. Echocardiography has demonstrated an increased incidence of pericardial effusion, even in those who have minimal symptoms. Chronic adhesive pericarditis, pericardial tamponade, and constrictive pericarditis occur rarely. While myocarditis is commonly noted at autopsy, it is often silent clinically. Diagnosis during life can be confirmed only by endomyocardial biopsy. Electrocardiographic changes are often nonspecific. Endocarditis with superimposed nonbacterial verrucous vegetations (Libman-Sacks) is noted in more than 40% of hearts at autopsy, but is rarely diagnosed during life. Valve dysfunctions, such as aortic stenosis, aortic insufficiency, mitral stenosis, and mitral insufficiency, occasionally manifest during life and rarely may necessitate surgery. Atrial and ventricular arrhythmias, first degree AV block, and acquired CHB occur in association with pericarditis, myocarditis, vasculitis, and myocardial fibrosis, respectively. CCHB developing in newborns of mothers with SLE, particularly those who have an antibody to soluble tissue ribonuclear protein RO(SS-A), is increasingly being appreciated by both pediatric cardiologists and rheumatologists. Recently, severe coronary atherosclerosis resulting in angina pectoris and/or myocardial infarction in young adults has been noted, particularly in those who had developed risk factors such as hypertension and hyperlipidemia while receiving prolonged corticosteroid therapy. Rarely, coronary arteritis may produce similar symptoms. Congestive heart failure of either single or multiple etiologies carries an ominous prognosis. It remains a cause of high morbidity and mortality unless recognized early and treated properly. Extracardiac vascular manifestations of SLE include telangiectasia, vasculitis, livedo reticularis, Raynaud's phenomena, and thrombophlebitis, all of which may occur either alone or in different combinations. Evidence is now slowly accumulating that substantiates that immune complex deposition, complement activation and subsequent inflammatory reaction is responsible for the majority of the cardiovascular manifestations of SLE, for example, pericarditis, myocarditis, endocarditis, coronary arteritis, coronary atherosclerosis, and systemic and pulmonary vasculitis.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Cardiovascular manifestations of systemic lupus erythematosus: current perspective. 286 Jun 99

A 56-year-old white man presented with a lesion on the right shoulder. The lesion developed during a short period and recently became irritated with occasional bleeding and mild pruritus. The patient denied pain. Medical history included melanoma, nonmelanoma skin cancer, diabetes mellitus type II, hyperlipidemia, multinodular thyroid goiter, and obesity. Medications and family and social history were noncontributory. Review of systems was negative. Examination revealed a slightly raised, friable yellow-pink waxy plaque located on the right shoulder (Figure 1). There was no evidence of excoriation, secondary infection, drainage, scale, crust, atrophy, lichenification, or telangiectasia. The patient had no mucosal or nail changes and the remainder of his skin examination was normal. A shave biopsy on the right shoulder revealed a nodular deposit of homogenous eosinophilic material associated with extravasated erythrocytes within the dermis. An infiltrate of lymphocytes and plasma cells was associated with the deposits. Immunohistochemical stains revealed positive plasma cells with kappa light chain and negative with lambda light chain. Congo red stain was positive and supported the diagnosis. The findings were consistent with nodular cutaneous amyloidosis (NCA) of the amyloid light-type. Initial work-up included referrals to hematology/oncology and to general surgery. The patient had a complete blood cell count (CBC), complete metabolic profile (CMP), serum protein electrophoresis (S-PEP), urine protein electrophoresis (U-PEP), 24-hour urine creatinine clearance, and protein, serum immunoglobulins and 132 microglobulin. These were all within normal limits. Abdominal/pelvic computed tomography and positron emission tomography scan also were within normal limits. Bone marrow biopsy showed no abnormalities. The patient underwent both an abdominal fat pad biopsy as well as a colonoscopy with rectal biopsy. Both were negative for amyloidosis. Initially, the patient's cutaneous amyloidosis remained localized and mild pruritus was controlled with low potency topical steroids. The patient was closely monitored by hematology/oncology and general surgery on a biannual basis to assess the possibility of progression to systemic amyloidosis. Over the course of the subsequent two years, the patient developed multiple similar lesions across the back, shoulders, and chest, which were biopsied and found to be consistent with NCA. Progression of the cutaneous nodules led to disfiguring, painful, and friable pink to yellow waxy papules coalescing into plaques with obvious hemorrhage diffusely over the trunk (Figure 2). In lieu of the painful and disfiguring progression of disease, the patient desired a more aggressive treatment plan. At present, the treatment option recommended to the patient is carbon dioxide laser ablation. Hematology/oncology recommendation consists of a general systemic amyloid reevaluation annually, including CBC, CMP, S-PEP, U-PEP, 24-hour urine collection with creatinine clearance, and history and physical examination.
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PMID:Nodular cutaneous amyloidosis. 2216 48

Ataxia-telangiectasia (A-T) is a rare disease characterized by neurodegenerative alterations, telangiectasia, primary immunodeficiency, extreme sensitivity to radiation, and susceptibility to neoplasms. A-T patients have inactivation of ataxia-telangiectasia-mutated (ATM) protein, which controls DNA double-strand break repair and is involved in oxidative stress response, among other functions; dysfunctional control of reactive oxygen species may be responsible for many of the clinical manifestations of this disease. To the best of our knowledge, hepatic lesions of steatohepatitis have not previously been reported in A-T patients. The present study reports the case of a 22-year-old man diagnosed with A-T at the age of 6 years who was referred to our Digestive Disease Unit with a three-year history of hyperlipidemia and liver test alterations. Core liver biopsy showed similar lesions to those observed in nonalcoholic steatohepatitis. Immunohistochemical staining disclosed the absence of ATM protein in hepatocyte nuclei. We suggest that the liver injury may be mainly attributable to the oxidative stress associated with ATM protein deficiency, although other factors may have made a contribution. We propose the inclusion of A-T among the causes of nonalcoholic steatohepatitis, which may respond to antioxidant therapy.
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PMID:Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia. 2537 30