Metabolic syndrome in Argentinean patients with systemic lupus erythematosus.

The objective was to determine the prevalence of the metabolic syndrome (MS) in patients with systemic lupus erythematosus (SLE) in Argentina, to assess the factors associated to it, and to compare the results with a control group with non-inflammatory disorders. The study included 147 patients with SLE and 119 controls. MS was defined according to criteria by the American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI) Scientific Statement. Demographic characteristics, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) and Systemic Lupus International Collaborating Clinics/ACR Damage Index (SDI) were assessed as well as administration, maximum dose and cumulative dose of prednisone and hydroxychloroquine (HCQ). MS prevalence was 28.6% (CI 95%: 21.4-36.6) in patients with SLE and 16% in controls (P = 0.0019). Patients with SLE presented higher arterial hypertension frequency compared with controls (43 vs 25%, P = 0.007). When comparing lupus patients with MS (n = 41) and without MS (n = 106), no significant differences were observed regarding duration of the disease, SLEDAI or cumulative prednisone dose. Cumulative damage was associated independently with MS (OR 1.98; P = 0.021), whereas HCQ use was found to be protective (OR 0.13; P = 0.015). Patients with lupus presented higher MS prevalence than controls with non-inflammatory disorders, and occurrence of arterial hypertension was also higher. MS was associated with cumulative damage; the use of HCQ showed to be protective against presence of MS.

Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus.

Previous studies have demonstrated that in admixed populations, West African ancestry is associated with an increased prevalence of systemic lupus erythematosus (SLE). In the current study, the effect of Amerindian ancestry in SLE was examined in an admixed population in Argentina. The Argentine population is predominantly European with approximately 20% Amerindian admixture, and a very small (<2%) contribution from West Africa. The results indicate that Amerindian admixture in this population is associated with a substantial increase in SLE susceptibility risk (Odds Ratio=7.94, P=0.00006). This difference was not due to known demographic factors, including site of collection, age and gender. In addition, there were trends towards significance for Amerindian ancestry influencing renal disease, age of onset and anti-SSA antibodies. These studies suggest that populations with Amerindian admixture, like those with West African admixture, should be considered in future studies to identify additional allelic variants that predispose to SLE.

Unusual manifestation of histoplasmosis in connective tissue diseases.

This report describes the coexistence of three patients with rheumatic diseases (systemic lupus erythematosus, rheumatoid arthritis, and dermatomyositis) and infections because of Histoplasma capsulatum. Connective tissue diseases and histoplasmosis share several clinical findings. Therefore, histoplasmosis could be misdiagnosed as connective tissue disease or a flare of these diseases. Such cases highlight the importance of awareness of histoplasmosis in immunocompromised patients, particularly in those originating from endemic areas.

Different end-points to assess effects in systemic lupus erythematosus patients exposed to pesticide mixtures.

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with high female predominance in reproductive years. It is characterized by a pronounced inflammation and production of a variety of autoantibodies. SLE pathogenesis is influenced by genes, hormones and environmental agents. The aim of this study was assess the possible effect of environmental pesticide mixtures in SLE patients. Oxidative DNA damage was measured using the comet assay modified by enzyme Endo III for detection of oxidized bases (Endo Sites), and oxidative stress by the measurement of the activity of catalase (CAT), superoxide dismutase (SOD) and lipid peroxidation (TBARS). Eighty-nine patients with diagnosis of SLE were included, 46% of them came from areas highly sprayed with pesticides and were compared with patients from urban areas with the same clinical and socio-demographic characteristics (p≥0.155). In order to identify factors that could predict DNA damage and oxidative stress, a binary logistic regression model with independent variables was developed: place of residence (p=0.007) have 75% of positive predictive value while smoking habit (p=0.186) have a 56% negative predictive value. The Odd Ratio (OR) obtained indicate that lupus patients living in rural areas presented 3.52 times more oxidative DNA damage compared to those living in the city. The prospects of applying biomarkers to assess exposure and biological effects, such as DNA damage and oxidative stress in autoimmune diseases, allow improving the characterization of individual risk.

The role of anticyclic citrullinated peptide antibodies in the differential diagnosis of elderly-onset rheumatoid arthritis and polymyalgia rheumatica.

There are clinical difficulties to differentiate elderly-onset rheumatoid arthritis (EORA) patients from those with polymyalgia rheumatica (PMR), especially when dealing with EORA-like PMR-onset, seronegative EORA, and PMR with peripheral synovitis, which constitute the subgroups presenting the greatest difficulties. Serum samples were obtained from two groups of patients, one with EORA diagnosis and another with a PMR diagnosis. Anticyclic citrullinated peptide (anti-CCP) antibodies (enzyme-linked immunosorbent assay method) and rheumatoid factor (RF; latex technique) were determined. Of the 16 EORA patients, 9 presented anti-CCP antibodies, 4 of whom tested positive for RF. Of the 12 EORA patients who remained negative to RF, 5 were positive for anti-CCP antibodies. Eight of the EORA patients started with polymyalgic symptoms. Three of these patients showed positive titles of anti-CCP antibodies with negative RF. All PMR patients presented negative anti-CCP antibodies, except one with weak positive titles, and all were negative for RF. Of 15 patients with PMR, 7 presented oligoarticular synovitis at the onset. After a mean follow-up of 3 months, two patients developed RA. When evaluating them for RF and anti-CCP antibodies, one tested negative, while the other was positive for both antibodies. We observed a tendency to higher values of anti-CCP antibodies in patients with extraarticular manifestations, radiological damage, and disease-modifying antirheumatic drugs. When compared to the PMR group, EORA patients presented positive anticitrulline antibodies at the beginning of the disease in a statistically significant amount. One third of the seronegative EORA patients presented positive anti-CCP antibodies at the onset.

Erdheim-Chester disease: description of eight cases.

Erdheim-Chester disease, although rare, has a wide range of manifestations. It is characterized by the xanthomatous infiltration of tissues by spumous histiocytes, surrounded by fibrosis. The symptoms can vary from bone pain, diabetes insipidus, exophthalmos, xanthelasmas, cardiovascular involvement, bilateral adrenal enlargement, renal impairment, testis infiltration, interstitial lung disease to retroperitoneal fibrosis with perirenal and/or ureteral obstruction. We present eight cases, four of them with only breast involvement and the others with bone, cardiovascular, central nervous system, and renal involvement. All showed infiltrates of histiocytes and fibrosis on microscopic evaluation and positive CD68 and negative CD1a on immunohistochemical stains.

Viejas enfermedades conocidas que afectan la órbita: Presentación de un caso clínico y revisión / Old known diseases affecting the orbit: Presentation of a clinical case and review

Presentamos el caso de un paciente de 56 años con antecedente de Mieloma Múltiple, que evoluciona con inflamación periorbitaria de ambos parpados, bilateral, de coloración amarillenta-violácea, ulcerada e indolora. Se planteó el diagnóstico diferencial con las enfermedades xantogranulomatosas orbitarias del adulto, en especial con su asociación con Mieloma Múltiple (MM). Al realizar biopsia de la lesión, se observan en la histología fragmentación de haces de colágeno dérmico y alrededor de vasos un material amorfo acelular eosinófilo pálido, rojo congo positivo y coloración verde manzana con luz polarizada, llegando al diagnóstico de Amiloidosis y Xantogranuloma Orbitario del Adulto.

We present the case of a 56-year-old patient with a history of Multiple Myeloma, who evolves with periorbital inflammation of both eyelids, bilateral, yellowish-violet, ulcerated and painless. The differential diagnosis with the adult orbital xanthogranulomatous diseases was raised, especially XN due to its association with MM. When performing a biopsy of the lesion, fragmentation of dermal collagen bundles and around vessels a pale eosinophilic acellular material, positive congo red and apple-green color with polarized light are observed in the histology, reaching the diagnosis of Amyloidosis and Orbital Xantogranuloma of the Adult.

El ojo: Un rompecabezas diagnóstico: Estudio observacional descriptivo y revisión / The Eye: A Diagnostic Puzzle: Descriptive observational study and review

Se comunica una serie de casos, multicéntricos de la cual participaron cinco instituciones. La muestra fue de 17 pacientes, de los cuales 11 pertenecían al Hospital Dr. J.M. Cullen. Todos consultaron por compromiso orbitario y/o periorbitario. El compromiso en hombres fue de 23.4% y un 76.6% en mujeres. La edad media en años fue de 45.4 (17-69 años). Dentro de los diagnósticos encontrados, cinco casos fueron Enfermedad Relacionada con IgG4 (ER-IgG4), dos casos de Enfermedad de Erdheim Chester (EEC), dos Xantogranuloma, dos xantelasmas, un caso de metástasis de cáncer de mama, un caso de orbitopatía tiroidea, un caso de Amiloidosis con mieloma múltiple, y tres sin diagnóstico. Se revisan los diagnósticos diferenciales encontrados.

A series of multicentric cases is reported, of which five institutions participated. The sample was of 17 patients, of which 11 belonged to our Hospital, the Dr. J.M. Cullen Hospital. All consulted for orbital and/or periorbital commitment. The commitment in men was 23.4% and 76.6% in women. The average age in years was 45.4 (17-69 years). Among the diagnoses found, five cases were IgG4-Related Disease, two cases of Erdheim Chester Disease, two Xantogranuloma, two xanthelasmas, a case of breast cancer metastases, a case of thyroid orbitopathy, a case of Amyloidosis with multiple myeloma, and three without diagnosis. Differential diagnoses found are reviewed.

Lymphadenopathy secondary to silicone hand joint prostheses.

The occurrence of lymphadenopathies was investigated in 23 patients with diverse rheumatic conditions who had silastic prosthesis in joints of the hands, to determine whether these adenopathies were due to the presence of silicone particles. Five cases had clinically detectable lymph node enlargement and tissue samples were studied by light and scanning electron microscopy (SEM) and energy dispersive X-ray analysis (EDXA). In 3 out of the 5 cases foreign body granulomas were observed by light microscopy, SEM showing a highly irregular distribution of foreign body material with a peak for silicone by EDXA. Foreign body particle distribution closely correlated with silicone concentration. No granulomas were found in the two remaining patients with adenopathies who presented a non-specific reactive lymphadenitis. Our findings show that silicone lymphadenopathy is a more frequent complication (13%) of silastic arthroplasty than is usually recognized and therefore should be considered in the differential diagnosis of patients with lymph node enlargement who have previously received a silicone arthroplasty.

Bilateral pleural effusion in a patient with urticarial vasculitis.

A 32-year-old woman with a 6-year history of urticaria, acute anterior uveitis and mesangial glomerulonephritis developed bilateral pleural effusion. A thorough laboratory workup during repeated attacks of concomitant urticaria and bilateral pleural effusion together with the histopathological finding of the skin biopsy revealed normocomplementemic leukocytoclastic vasculitis. Bilateral pleural effusion should be included in the clinical spectrum of urticarial vasculitis syndrome.

Fibromyalgia associated with female urethral syndrome.

Thirty-eight out of 212 patients (18%) with fibromyalgia met the criteria for the definition of female urethral syndrome (FUS). None of the patients from the control group met these criteria. The treatment for FUS was the same as that for fibromyalgia: cyclobenzaprine or diazepam and nonsteroidal anti-inflammatory drugs with a partial response in both pathologies. We should consider FUS in the evaluation of every patient with fibromyalgia.

The rheumatic manifestations of leprosy.

We investigated the rheumatic and laboratory features in 25 patients with Hansen's disease. Sixteen (64%) developed a broad range of rheumatic manifestations, the most common being a distinctive syndrome of swollen hands observed in 10 patients (66.5%). These manifestations were more frequent in patients with lepromatous leprosy. There was no correlation between articular clinical findings and X-ray or laboratory abnormalities. A careful clinical history and the recognition of rheumatic features will help to differentiate patients with leprosy and rheumatic manifestations from those with a primary rheumatic disease.

Bilateral pneumothorax and mediastinal emphysema in systemic lupus erythematosus.

The association of pneumothorax and mediastinal emphysema in systemic lupus erythematosus (SLE) has not been described extensively in the literature. We describe a 36 year-old man with SLE, complicated by bilateral pneumothorax, mediastinal emphysema and pneumoperitoneum. Despite the treatment received, he died of respiratory failure.

Distal extremity swelling with pitting oedema in rheumatoid arthritis.

Distal extremity swelling with pitting oedema due to altered lymphatic drainage has been reported in some patients with rheumatoid arthritis (RA). The resistant-to-therapy oedema usually affected the upper limbs in an asymmetrical pattern. Until now, extensor tenosynovial involvement has not been described in RA patients suffering from distal extremity swelling with pitting oedema. Three patients are described: two of them had predominant extensor tenosynovial involvement in their hands, with impaired lymphatic drainage demonstrated by (MRI) and lymphoscintigraphy, respectively. In both cases the oedema was chronic and not responsive to treatment. One patient had extensor tenosynovial involvement without impaired lymphatic drainage. In this case, the oedema remitted completely after a few days of corticosteroid therapy. None of them showed differences in serum levels of vascular endothelial growth factor (VEGF), whether they were RA patients with no pitting oedema or healthy volunteers.

Enteropathic arthritis in association with collagenous colitis.

A 46-year-old man simultaneously developed chronic seronegative non destructive oligoarthritis and chronic watery diarrhoea. Biopsies from the colorectal mucosa showed a thickened subepithelial collagen layer consistent with collagenous colitis. Collagenous colitis should be added to the list of causes of enteropathic arthritis.

Remitting seronegative symmetrical synovitis with pitting oedema: a study of 12 cases.

Twelve patients with remitting seronegative symmetrical synovitis with pitting oedema (RS3PE) were analysed. Eight of them had typical RS3PE without underlying disease, and four presented associated neoplasia. The first patients experienced an excellent response to low doses of prednisone, and they all achieved complete and permanent remission. The mean treatment duration was 18 months and the mean follow-up was 4.4 years. During the follow-up, none of these patients relapsed, had fever or general health deterioration, and hand and foot radiographs did not show erosion. One of them developed a panarteritis nodosa 6 years later. Four RS3PE patients had associated neoplasia. Two were with solid malignancies, and the other two presented haematological malignancies. In one of them RS3PE preceded the diagnosis of malignancy. The diagnosis of RS3PE in the other patients was subsequent to cancer. The first patients presented clinical characteristics suggestive of paraneoplastic RS3PE, and they had a poor response to corticosteroid therapy. Two patients died, and the rest of them had a complete response to surgical resection of the tumour or to chemotherapy. In general, idiopathic RS3PE patients do not show either general health deterioration or fever and they do respond to low doses of steroids (10 mg/day). We observed strong contrasts with the results obtained when treating RS3PE patients with associated neoplasia. In patients with RS3PE the presence of systemic symptoms along with resistance to low doses of corticosteroid therapy should alert the physician to the possible presence of malignancy.

Joint manifestations of Fabry's disease.

We describe 2 patients with Fabry's disease with disabling crises of burning pain in hands and feet. These crises were accompanied by fever and an elevation of the erythrocyte sedimentation which often led to erroneous diagnosis of other rheumatic conditions. Fabry's disease should be considered on the different diagnoses of intermittent rheumatic syndromes.

Rheumatoid nodulosis: a puzzling variant of rheumatoid arthritis.

Four patients with rheumatoid nodulosis are here described, together with a review of cases reported to date in the literature. This particular variant of rheumatoid arthritis (RA) is characterized by the presence of subcutaneous rheumatoid nodules, scanty or absent systemic manifestations and a clinically benign course. Joint involvement appears more commonly as palindromic rheumatism, although patients with arthralgia episodes alone and others with chronic polyarthritis have been described. Seldom reported up to now, a consideration of this entity may help to avoid diagnostic pitfalls and the use of aggressive therapy.

Remitting seronegative symmetrical synovitis with pitting edema.

We describe four patients who presented with seronegative inflammatory peripheral polyarthritis with pitting edema. All of these patients had spontaneous resolution of their disease over 9-18 months. None of them developed erosions or relapse after prolonged follow-up. Recognition of the features described may allow for conservative therapy with less toxic drugs.