[Antiphospholipid antibodies and Gaucher's disease. A case report].
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Biomedical subjects
Publications and source records attributed to M San Marco.
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PURPOSE: Autoantibodies directed against the ribosomal P proteins, P0, P1 and P2 (anti-P), have been related to lupus-related psychosis and/or depression. The diagnostic value of antibodies directed against other ribosomal proteins or 28S RNA (anti-no-P) remains unknown. A multicenter study including ten centers belonging to the study group for autoimmune diseases (GEAI) was conducted in order to determine the diagnostic value of anti-P and anti-no-P antibodies in a large population of patients. METHODS: The patients were selected on the basis of the presence of serum anti-ribosomal antibodies detected by indirect immunofluorescence (IF) on rat liver/kidney/stomach/pancreas sections and human HEp2 cells. The clinical course of all patients was studied using a predetermined survey. The specificity of anti-P antibodies were determined by Western blot. RESULTS: Anti-ribosomal antibodies were found in 82 patients. Fifty-five of them had systemic lupus erythematosus and 27 had another disease. Only 54% of the anti-ribosomal antibodies detected by IF were anti-P and were found in 69% of the patients with systemic lupus erythematosus. Anti-no-P antibodies (46%) were preferably detected in patients who suffered from another disease (78%). In patients with systemic lupus erythematosus, neurological and psychiatric disorders were more frequent in the no-P group (47% vs. 16%, P < 0.01) than arthritis, which was found more frequently in the P group (78% vs. 53%, P < 0.05). CONCLUSION: Anti P antibodies do not constitute a specific diagnostic marker of systemic lupus erythematosus, and lupus-related neuropsychiatric disorders would be preferably associated with the presence of anti no-P antibodies.
Chronic hepatitis C virus (HCV) infections are often associated with extrahepatic immunological manifestations, including various autoimmune disorders. The aims of this study were to determine the prevalence of HCV markers in patients with myasthenia gravis (MG) and to determine any relationship with HCV infection. Eighty-three patients with MG. 40 men aged 20-93 years and 43 women aged 13-87 years (mean age 54 years) were studied. The MG patients were positive for antibody to acetylcholine receptor in addition, their sera was analysed for antibody to HCV (HCVAb) and HCV RNA, HCVAb was detected in two of the 83 patients (2.4%). Four patients were repeatedly HCV RNA positive. They were infected by HCV genotype 1 (one patient), HCV genotype 2a (two patients) and an undetermined HCV genotype in one patient. They received plasmapheresis or intravenous immunoglobulin treatment. Among the four patients, one was infected after the onset of MG without receiving a blood transfusion or using intravenous drugs. The other three had chronic hepatitis C which was discovered at the same time as MG and only one patient had been exposed to blood products. The prevalence of HCV markers in patients with MG (4.8%) was higher than that reported for the general French population, about 1%. This prevalence is similar to that occurring in patients exposed to plasmapheresis or intravenous immunoglobulin. In conclusion, HCV appears to play little, if any, role in causing MG. The higher prevalence of infection among MG patients may be related to transmission in the course of therapy.
Vascular access thrombosis (VAT) is frequent in some hemodialysis patients. Antiphospholipid antibodies (APL) have been involved in thrombosis, and have been reported to be present in a high proportion of patients with chronic renal failure. We studied the relationship between APL and thrombosis in 97 hemodialysis patients (HD). Lupus anticoagulant (LA) was assessed by activated partial thromboplastin time (APTT) and by tissue thromboplastin inhibition assay (TTI). IgG-anticardiolipin (ACA) was measured by a solid phase ELISA. The prevalence of APL was 31%; LA was found in 16.5% and was detected in all cases by TTI. Only one patient was positive for APTT. ACA was found in 15.5%. Only one patient was positive for LA and ACA. We found no relation between APL and age, length of time on dialysis, sex, type of dialysis membrane, drugs, and chronic B and C hepatitis. A high prevalence of APL was found in patients with undetermined nephropathy. When histories of thrombosis were examined, VAT was found to be significantly more frequent in patients with LA than in patients without LA (62% vs. 26%; P = 0.01). This relation was not present with ACA. Since VAT is one of the most frequent causes of morbidity for HD, diagnostic evaluation of VAT in HD should now include assay for LA.
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Immunotherapy using recombinant interleukin 2 (rIL-2) has been shown to induce thyroid dysfunction in some cancer patients. The purpose of the present study was to evaluate the incidence and risk factors of this adverse autoimmune response. Triiodothyronine, thyroxine and thyrotropin levels were measured serially in 146 consecutive patients treated with rIL-2 for refractory solid tumor (77 patients) or malign hemopathy (69 patients); rIL-2 was administered intravenously in 5-day cycles (18 x 10(6)-24 x 10(6) IU.m-2.day-1) either alone in 79 cases or in combination with autologous bone marrow transplantation in 26 cases, with interferon-gamma in 37 cases, with tumor necrosis factor-alpha in 13 and with cyclophosphamide in five cases. Some patients underwent more than one therapeutic protocol. Peripheral hypothyroidism was present upon entry in nine (6.2%) patients. Thyroid dysfunction appeared or worsened during rIL-2 therapy in 24 (16.4%) patients. Sixteen (10.9%) patients exhibited peripheral hypothyroidism, out of which four exhibited biphasic thyroiditis. Another five (3.4%) patients developed transient hyperthyroidism. Anomaly could not be classified in three patients. Thyroid dysfunction appeared early after one or two cycles. All surviving patients recovered. Only gender and presence of antithyroid antibody were correlated significantly with rIL-2-induced thyroid abnormalities. No correlation was found with any of the other risk factors studied, i.e. type of malignancy, rIL-2 treatment procedure, clinical efficacy, evolution of circulating lymphocyte subsets or other autoimmune antibodies. Antithyroid antibodies were detected in 60.9% of patients with this complication. Thyroid-stimulating antibodies were never detected.(ABSTRACT TRUNCATED AT 250 WORDS)
Small erythematous or cyanotic lesions on the hands and feet of four patients with antiphospholipid antibodies are described. These discrete lesions outline capillaries and do not disappear when pressure is applied. The histologic features are identical to those described in skin thrombotic syndrome associated with antiphospholipid antibodies, that is, microthrombi in dermal vessels without inflammation. In addition to indicating antiphospholipid antibodies in apparently healthy patients, this sign could be a marker of risk for large-vessel thrombosis.
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OBJECTIVE: To determine the prevalence of organ-specific and non-specific autoantibodies in HIV-infected patients. DESIGN: A multicentric collaborative case-control study including 105 HIV patients and 100 sex- and age-matched HIV-negative healthy volunteers. METHODS: Antinuclear, anti-ds DNA, anti-histone, anti-Sm, rheumatoid factor(IgM), anti-beta 2 glycoprotein 1, antineutrophil cytoplasmic, anti-LKM1, anti-LCA1, anti-gastric parietal cell, antiplatelet, anti-intermediate filament, anti-mitotic spindle apparatus, anti-Golgi, anti-ribosome and anti-thyroid autoantibodies were screened in six European laboratories. RESULTS: Only IgG and IgM anticardiolipin, IgG antiplatelet, anti-smooth muscle and anti-thyroglobulin antibodies were statistically more frequent in HIV patients. There was no correlation with the numbers of CD4+ cells except in the case of anti-smooth muscle antibodies. We were unable to find specific autoantibodies such as anti-ds DNA, anti-Sm, AMA, anti-LKM1, anti-LCA1 or anti-beta 2 GP1 antibodies in these patients. CONCLUSIONS: Our results indicate that the autoantibody profile of HIV infections is comparable to those of other chronic viral infections. HIV does not seem to be more autoimmunogenic than other viruses.