RESUMO
OBJECTIVE: The aim of this study was to investigate whether foot and lower limb related symptoms were associated with work participation and poor mobility in people with Systemic Lupus Erythematosus (SLE). METHOD: A quantitative, cross-sectional, self-reported survey design was utilised. People with SLE from six United Kingdom (UK) treatment centres and a national register were invited to complete a survey about lower limb and foot health, work participation and mobility. Data collected included work status and the prevalence of foot symptoms. The focus of the analyses was to explore potential associations between poor foot health work non-participation. RESULTS: In total, 182 useable surveys were returned. Seventy-nine respondents reported themselves as employed and 32 reported work non-participation. The remaining were retired due to age or reported work non-participation for other reasons. Work non-participation due to foot symptoms was significantly associated with difficulty walking (p = 0.024), past episodes of foot swelling (p = 0.041), and past episodes of foot ulceration (p = 0.018). There was a significant increase in foot disability scores amongst those not working (mean 18.13, 95% CI: 14.85-21.41) compared to those employed (mean 10.16, 95% CI: 8.11-12.21). CONCLUSIONS: Twenty-nine% of people with SLE reported work non-participation because of lower limb or foot problems. Our results suggest that foot health and mobility may be important contributors to a persons' ability to remain in work and should be considered as part of a clinical assessment.
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Emprego/estatística & dados numéricos , Doenças do Pé/epidemiologia , Lúpus Eritematoso Sistêmico/complicações , Limitação da Mobilidade , Adolescente , Adulto , Idoso , Estudos Transversais , Feminino , Doenças do Pé/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Autorrelato , Reino Unido/epidemiologia , Adulto JovemRESUMO
Background Systemic lupus erythematosus (SLE) can present with a variety of symptoms. Previous research has shown there is a high prevalence of lower limb and foot problems in patients with SLE associated with the musculoskeletal, vascular and neurological changes. Furthermore, there is a high prevalence of infections affecting the feet and a range of common skin and nail problems. However, it is not known how these foot problems impact upon people's lives. Therefore, we aimed to explore this using a qualitative approach. Method Following ethical approval, 12 participants were recruited who had a diagnosis of SLE, current and/or past experience of foot problems and were over 18 years in age. Following consent, interviews were carried out with an interpretivist phenomenological approach to both data collection and analysis. Results Seven themes provide insight into: foot problems and symptoms; the impact of these foot problems and symptoms on activities; disclosure and diagnosis of foot problems; treatment of foot problems and symptoms; perceived barriers to professional footcare; unanswered questions about feet and footcare; and identification of the need for professional footcare and footcare advice. Conclusion These participants tend to "self-treat" rather than disclose that they may need professional footcare. A lack of focus upon foot health within a medical consultation is attributed to the participant's belief that it is not within the doctor's role, even though it is noted to contribute to reduced daily activity. There is a need for feet to be included as a part of patient monitoring and for foot health management to be made accessible for people with SLE.
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Doenças do Pé/etiologia , Lúpus Eritematoso Sistêmico/complicações , Atividades Cotidianas , Adulto , Idoso , Efeitos Psicossociais da Doença , Feminino , Doenças do Pé/diagnóstico , Doenças do Pé/terapia , Conhecimentos, Atitudes e Prática em Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Entrevistas como Assunto , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/terapia , Pessoa de Meia-Idade , Aceitação pelo Paciente de Cuidados de Saúde , Podiatria/métodos , Pesquisa Qualitativa , Fatores de Risco , AutocuidadoRESUMO
Objective The main aim of this survey was to determine the frequency of self-reported lower limb or foot and ankle complications experienced by participants with systemic lupus erythematosus (SLE). A secondary aim was to determine the frequency of treatments that have been received or that participants with SLE may like to receive if offered. Method A quantitative, cross-sectional, self-reported survey design was utilized. The developed survey was checked for face and content validity prior to patient partner cognitive debriefing in order to ensure usability, understanding of the process of completion and of the questions posed. The full protocol for survey development has been published previously. Results This is the first comprehensive national UK survey of lower limb and foot health problems reported by participants with SLE. A high prevalence of vascular, dermatological and musculoskeletal complications was reported by survey respondents. Additionally, whilst the relative prevalence of sensory loss was low, a quarter of people reported having had a fall related to changes in foot sensation demonstrating a previously unknown rate and cause of falls. Conclusion Complications related to vascular, dermatological and musculoskeletal health are identified as particularly prevalent in participants with SLE. Further, there is a suggestion that the provision of interventions to maintain lower limb health is highly varied and lacks national standardization, despite there being a strong indication of participant reported need. The findings of this work can be used to inform care guideline development in addition to identifying areas for future research.
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Acidentes por Quedas , Doenças do Pé/fisiopatologia , Extremidade Inferior/lesões , Lúpus Eritematoso Sistêmico/fisiopatologia , Adulto , Estudos Transversais , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Autorrelato , Reino UnidoRESUMO
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease associated with increased mortality and significant personal, psychological and socioeconomic consequences. An agreed definition of remission is needed and lacking. We sought to visualize 'remission in SLE' in European patients considered by their physicians to be 'in remission' by comparing the reported symptom burden as reported by treating physicians for patients considered to be 'in remission' and those not considered to be 'in remission'. Data for 1227 patients drawn from a multinational, real-world survey of patients with SLE consulting practising rheumatologists and nephrologists in France, Germany, Italy, Spain, and the UK show that physicians classed their patients as 'in remission' despite a considerable ongoing symptom burden and intensive immunosuppressive medication. Patients considered to be 'in remission' still had a mean of 2.68 current symptoms vs 5.48 for those considered to be not 'in remission' (p < 0.0001). The most common symptoms among those seen to be 'in remission' were joint symptoms, fatigue, pain, mucocutaneous involvement, haematological manifestations and kidney abnormalities. The current analysis highlights important ongoing disease activity, symptom burden and immunosuppressive medication in European patients with SLE considered by their treating physician to be 'in remission'. For a further improvement of outcome, there is an urgent need for an international consensus on the definitions for remission among patients with SLE.
Assuntos
Compreensão , Lúpus Eritematoso Sistêmico/classificação , Lúpus Eritematoso Sistêmico/diagnóstico , Terminologia como Assunto , Consenso , Efeitos Psicossociais da Doença , Estudos Transversais , Progressão da Doença , Europa (Continente) , Pesquisas sobre Atenção à Saúde , Humanos , Imunossupressores/uso terapêutico , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Qualidade de Vida , Indução de Remissão , Resultado do TratamentoRESUMO
OBJECTIVE: The objective of this paper is to assess the validity of a linguistically validated version of the Lupus Quality of Life (LupusQoL(©)) in Italian patients affected by systemic lupus erythematosus (SLE). METHODS: Consecutive SLE patients completed the Italian version of the LupusQoL(©) and the Short Form (SF)-36. Disease activity was evaluated by the SLE disease activity Index-2000 (SLEDAI-2 K), and chronic damage by the Systemic Lupus International Collaborating Clinics/American College Rheumatology (ACR) Damage Index score (SDI). Internal consistency and test-retest reliability, convergent and discriminant validity were examined. Factor analysis with varimax rotation was performed. RESULTS: A total of 117 Italian SLE patients (M:F 13:104; mean age 40.6 ± 11.6 years, mean disease duration 127.5 ± 94.1 months) were recruited into the study. The Italian version of the LupusQoL(©) demonstrated substantial evidence of convergent validity in these patients when compared with equivalent items of the SF-36. In addition, the LupusQoL(©) discriminated between patients with different degrees of disease activity as measured by the SLEDAI-2 K. SLE patients with higher disease activity (SLEDAI-2K ≥4) showed poor QoL compared with those with lower disease activity (SLEDAI-2K <4), with significant differences in the domains of physical health, planning, burden to others and fatigue (p = 0.001, p = 0.04, p = 0.03, p = 0.04, respectively). The confirmatory factor analysis using the eight domain loadings of the 34 items showed a poor fit (χ(2)/degree of freedom (df) 2.26, χ(2 )= 1128.6 (p < 0.001), root mean square error of approximation (RMSEA) = 0.167; goodness-of-fit index (GFI) = 0.606, comparative fit index (CFI) = 0.649)). Screeplot analysis suggested a five-factor loading structure and confirmatory factor analysis result of which is similar to the eight-factor model. A good internal consistency was observed (Cronbach's α 0.89-0.91). Test-retest reliability was good to excellent between baseline and day 15 (intraclass correlation coefficient (ICC) 0.90-0.98). CONCLUSION: The Italian version of the LupusQoL(©) is a valid tool for adult patients with SLE.
Assuntos
Lúpus Eritematoso Sistêmico , Qualidade de Vida , Inquéritos e Questionários , Adulto , Feminino , Humanos , Itália , Lúpus Eritematoso Sistêmico/diagnóstico , MasculinoRESUMO
BACKGROUND: The manifestations of systemic lupus erythematosus (SLE) vary between individuals, from the severe and life-threatening renal and central nervous system involvement, to the involvement of skin, musculoskeletal and vascular system, and the complications of infection influencing the quality of life. However, as specific manifestations affecting the lower limb are perceived as receiving little focus, the purpose of this narrative literature review is to identify the specific factors associated with SLE that may have implications for lower limb and foot morbidity. METHOD: A structured search of databases was conducted. The inclusion was restricted to publications in the English language, those that specifically investigate the feet as affected with SLE. No restriction on year of publication was imposed to reduce publication bias and to capture as many publication in relation to feet. RESULTS: Eleven papers fulfilled the inclusion criteria. There were seven additional papers that made observations related to the articular or vascular complications of the feet. This narrative review provides some information on how SLE affects the lower limb and foot in relation to the musculoskeletal and vascular systems. However, there is a lack of literature that specifically focuses on all the manifestations of SLE and the complications associated with its management. DISCUSSION: There are indications that SLE affects lower limb and foot morbidity but the scale of these problems is unclear and this is partly because of the absence of research and the lack of a 'gold standard' framework for the assessment of the lower limb and foot. In addition to clinical foot health assessment, ultrasonography may be a useful alternative to plain film radiography or magnetic resonance imaging (MRI) in capturing the extent of articular and extra-articular manifestations. Further, the Ankle Brachial Pressure Index (ABPI) may be useful in identifying those with atherosclerosis and ischaemia. CONCLUSION: There are indications that SLE affects lower limb and foot morbidity but the scale of these problems and effective management of them is unclear. Therefore, further research is warranted in order to better understand the impact of SLE on the foot and lower limb and its impact on quality of life.
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Doenças do Pé/etiologia , Lúpus Eritematoso Sistêmico/complicações , Doenças Ósseas/etiologia , Humanos , Extremidade Inferior , Morbidade , Doenças Musculares/etiologia , Doenças Vasculares/etiologiaRESUMO
Systemic lupus erythematosus (SLE) is associated with an increased risk of coronary heart disease (CHD) not fully explained by classic risk factors. Metabolic syndrome (MetS) is associated with an increased risk of CHD in the general population and whilst its prevalence is increased in SLE, its phenotypic expression may differ. We studied 200 women with SLE and 100 controls and compared the prevalence of MetS and its individual components. We examined whether any SLE features were associated with MetS and whether MetS in SLE patients was associated with carotid plaque. Patients with SLE were more likely to meet the MetS criteria (age-adjusted OR 2.1 (1.1-3.8)). However, this was not due to increased central obesity (median waist circumference 84 cm vs. 82 cm, p = 0.65) but rather increased prevalence of hypertension (p <0.01) and low HDL-cholesterol (p = 0.01). In a multivariable analysis, age, disease duration, low complement C3 and corticosteroid use ever, were associated with the presence of MetS in SLE. Overall MetS was not associated with the presence of carotid plaque in either SLE or controls. We have shown that MetS is more prevalent in SLE, but the lupus-MetS phenotype reflects risk factor changes driven by disease activity and steroid exposure, rather than obesity. Reliance on clinical measures of central obesity to consider MetS in SLE is not reliable and continued attention to individual CHD risk factors is recommended.
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Lúpus Eritematoso Sistêmico/epidemiologia , Síndrome Metabólica/epidemiologia , Adulto , Antimaláricos/efeitos adversos , Estenose das Carótidas/epidemiologia , Estudos de Casos e Controles , Feminino , Glucocorticoides/efeitos adversos , Humanos , Modelos Logísticos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Síndrome Metabólica/etiologia , Pessoa de Meia-Idade , Fenótipo , Prevalência , Circunferência da CinturaRESUMO
We sought to understand the patients' 'lived experiences of systemic lupus erythematosus (SLE)' by exploring, describing and clarifying the patients' perspective of how they felt about having SLE and how the disease impacted on their lives, both positively and/or negatively. An interpretative phenomenological approach was employed. Semi-structured interviews were undertaken with 30 females with SLE across a wide range of age (21 to 75 years), disease characteristics, disease duration (1 to 28 years) and ethnicity (Whites, South Asians). Eleven themes emerged as important to the patients: prognosis and course of disease; body image; effects of treatment; emotional difficulties; inability to plan due to disease unpredictability; fatigue; pain; career prospects and loss of income; memory loss/concentration; reliance on others to assist with everyday tasks; and pregnancy issues. Most patients reported a negative impact of SLE on their lives although a few patients found positive aspects to having SLE. The findings of this study identified themes important to patients with SLE and these themes will inform clinicians on the patients' perspective of having SLE.
Assuntos
Lúpus Eritematoso Sistêmico/psicologia , Qualidade de Vida , Adulto , Idoso , Imagem Corporal , Fadiga/epidemiologia , Fadiga/etiologia , Feminino , Humanos , Entrevista Psicológica , Lúpus Eritematoso Sistêmico/fisiopatologia , Transtornos da Memória/epidemiologia , Transtornos da Memória/etiologia , Pessoa de Meia-Idade , Dor/epidemiologia , Dor/etiologia , Gravidez , Prognóstico , Adulto JovemRESUMO
BACKGROUND: Patient-reported outcomes are valuable for the management of chronic diseases like systematic lupus erythematosus (SLE), but no measures have been validated for use in US-based patients with SLE. OBJECTIVES: To adapt and assess the validity and reliability of an SLE-specific quality of life (QoL) measure developed in the United Kingdom, the LupusQoL, for use in US-based patients with SLE. METHODS: Debriefing interviews of subjects with SLE guided the language modifications of the tool. The LupusQoL-US, SF-36 and EQ5D were administered. Internal consistency (ICR) and test-retest (TRT) reliability, convergent and discriminative validity were examined. Factor analyses were performed. RESULTS: The mean (SD) age of the 185 subjects with SLE was 42.5 (12.9) years. ICR and TRT of the eight domains ranged from 0.85 to 0.94 and 0.68 to 0.92, respectively. Related domains on the SF-36 correlated with the LupusQoL domains (physical health and physical function r = 0.73, physical health and role physical r = 0.57, emotional health and mental health r = 0.72, emotional health and role emotional r = 0.48, pain and bodily pain r = 0.66, fatigue and vitality r = 0.70, planning and social functioning r = 0.58). Most LupusQoL-US domains could discriminate between subjects with varied disease activity and damage. Principal component analysis disclosed five factors in the US version, with physical function, pain and planning items loading on one factor. CONCLUSIONS: These data provide evidence to support the psychometric properties of the LupusQoL-US, suggesting its utility as an assessment tool for patients with SLE in the USA.
Assuntos
Indicadores Básicos de Saúde , Lúpus Eritematoso Sistêmico/reabilitação , Qualidade de Vida , Adulto , Comparação Transcultural , Feminino , Humanos , Idioma , Lúpus Eritematoso Sistêmico/fisiopatologia , Lúpus Eritematoso Sistêmico/psicologia , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde/métodos , Psicometria , Reprodutibilidade dos Testes , Reino Unido , Estados UnidosRESUMO
We tested the hypothesis that carotid atherosclerosis in systemic lupus erythematosus (SLE) is associated with poor health-related quality of life (HRQOL), which is independent of any association with traditional risk factors (TRFs), lifestyle and socioeconomic factors. Women with SLE completed the RAND Medical Outcome Study 36-Item Short-Form Health Survey version 1 (MOS SF-36). B-mode Doppler examination of the carotid arteries determined the presence of atherosclerotic plaque. The association between carotid plaque and HRQOL domains was analysed using logistic regression models with sequential adjustments for age, TRFs, education level and employment status. We studied 181 women, 47 (26%) of whom had carotid plaque. Carotid plaque was significantly associated with lower levels of physical functioning (p = 0.047), vitality (p = 0.04), role emotional (p = 0.04) and mental health subscales (p = 0.01) and lower mental component summary score (MCS) (p = 0.03). These associations were no longer significant after adjustment for age and TRFs, especially smoking. Smokers had lower physical functioning, vitality and mental health and more bodily pain. The association between carotid plaque and HRQOL was not independent of TRFs and smoking was a key mediator of the associations found. Poor HRQOL in smokers will need addressing as part of any smoking cessation strategies in SLE patients.
Assuntos
Doenças das Artérias Carótidas/fisiopatologia , Lúpus Eritematoso Sistêmico/complicações , Qualidade de Vida , Fumar/efeitos adversos , Adulto , Doenças das Artérias Carótidas/complicações , Doenças das Artérias Carótidas/epidemiologia , Feminino , Inquéritos Epidemiológicos , Humanos , Estilo de Vida , Modelos Logísticos , Lúpus Eritematoso Sistêmico/fisiopatologia , Pessoa de Meia-Idade , Fatores de Risco , Fumar/epidemiologia , Fatores Socioeconômicos , Reino UnidoRESUMO
OBJECTIVE: To assess the reliability of Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)-2000 index in routine practice and its ability to capture disease activity as compared with the British Isles Lupus Assessment Group (BILAG)-2004 index. METHODS: Patients with systemic lupus erythematosus from 11 centres were assessed separately by two raters in routine practice. Disease activity was assessed using the BILAG-2004 and SLEDAI-2000 indices. The level of agreement for items was used to assess the reliability of SLEDAI-2000. The ability to detect disease activity was assessed by determining the number of patients with a high activity on BILAG-2004 (overall score A or B) but low SLEDAI-2000 score (<6) and number of patients with low activity on BILAG-2004 (overall score C, D or E) but high SLEDAI-2000 score (>or=6). Treatment of these patients was analysed, and the increase in treatment was used as the gold standard for active disease. RESULTS: 93 patients (90.3% women, 69.9% Caucasian) were studied: mean age was 43.8 years, mean disease duration 10 years. There were 43 patients (46.2%) with a difference in SLEDAI-2000 score between the two raters and this difference was >or=4 in 19 patients (20.4%). Agreement for each of the items in SLEDAI-2000 was between 81.7 and 100%. 35 patients (37.6%) had high activity on BILAG-2004 but a low SLEDAI-2000 score, of which 48.6% had treatment increased. There were only five patients (5.4%) with low activity on BILAG-2004 but a high SLEDAI-2000 score. CONCLUSIONS: SLEDAI-2000 is a reliable index to assess systemic lupus erythematosus disease activity but it is less able than the BILAG-2004 index to detect active disease requiring increased treatment.
Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Índice de Gravidade de Doença , Adulto , Estudos Transversais , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Reino UnidoRESUMO
OBJECTIVES: We aimed to examine the strength of association between traditional cardiovascular risk factors and carotid plaque development in systemic lupus erythematosus (SLE) patients and controls. We also aimed to determine which lupus-related factors are associated with carotid plaque and whether SLE sensitizes patients to the effects of traditional factors. METHODS: We studied 200 women with SLE and 100 controls. Demographic and risk factor data were collected and SLE features, including autoantibody profiles and therapy were noted. All subjects had B- mode ultrasound of their carotid arteries examined for the presence and distribution of plaque. RESULTS: SLE patients <55 years old had more plaque (21% vs 3% P < 0.01) and more SLE patients had plaque in the internal carotid artery (11% vs 4%; P < 0.05). Traditional risk factor models performed less well in SLE compared with controls [area under Receiver Operator Characteristic curves (AUC ROC) = 0.76 vs 0.90; P < 0.01]. A multivariable model using SLE factors only, performed significantly better (AUC ROC = 0.87; P < 0.01). The final model in SLE included age and cigarette pack-years smoking as well as azathioprine exposure ever, antiphospholipid antibodies (APLA) and previous arterial events (AUC ROC = 0.88). CONCLUSIONS: SLE patients have a higher prevalence and different distribution of carotid plaque than controls. SLE factors perform significantly better than traditional risk factors in their association with atherosclerosis in SLE and these factors add to the influence of traditional risk factors rather than sensitizing lupus patients to traditional factors. The SLE phenotype helps identify patients at increased risk of atherosclerosis.
Assuntos
Aterosclerose/etiologia , Lúpus Eritematoso Sistêmico/complicações , Adulto , Fatores Etários , Aterosclerose/diagnóstico por imagem , Artéria Carótida Interna/diagnóstico por imagem , Estenose das Carótidas/diagnóstico por imagem , Estenose das Carótidas/etiologia , Métodos Epidemiológicos , Feminino , Humanos , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Fumar/efeitos adversos , UltrassonografiaRESUMO
Health-related quality of life (HRQoL) is an important outcome measure in patients with systemic lupus erythematosus (SLE). A review was undertaken of the literature relating to HRQoL in SLE. MEDLINE, EMBASE, CINAHL, Allied and Complimentary Medicine were searched to locate full papers in the English language reporting on HRQoL in adult SLE patients published between 1990 and 2005. In total 53 papers were included and the review was subdivided into: 1) description of HRQoL in SLE patients; 2) HRQoL and disease activity and/or damage; 3) the impact of other variables on HRQoL; and 4) HRQoL measures used in clinical trials in SLE patients. The findings were as follows: HRQoL is reduced in SLE patients; HRQoL is not correlated to disease activity or damage; age appears to have a negative impact on HRQoL especially physical health but the effect of disease duration is unclear; other potentially modifiable variables such as fatigue and psychosocial factors impact on HRQoL in a complex manner; and HRQoL measures which are sensitive to change should be an essential outcome measure in all clinical trials on SLE patients.
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Lúpus Eritematoso Sistêmico/diagnóstico , Qualidade de Vida , Ensaios Clínicos como Assunto , Nível de Saúde , Humanos , Lúpus Eritematoso Sistêmico/psicologia , Lúpus Eritematoso Sistêmico/terapia , Avaliação de Resultados em Cuidados de SaúdeRESUMO
OBJECTIVE: To devise a more discriminating version of the British Isles Lupus Assessment Group (BILAG) disease activity index and to show that it is reliable. METHODS: A nominal consensus approach was undertaken by members of BILAG to update and improve the BILAG lupus disease activity index. The index has been revised following intense consultations over a 1-yr period. It has been assessed in two real-patient exercises. These involved patients with diverse clinical features of SLE, including gastrointestinal, hepatic and ophthalmic problems, which the earlier versions of the index did not fully take into account. Reliability in terms of the ability to differentiate patients was assessed by calculating intraclass correlation coefficients. The level of agreement between physicians was determined by calculating the ratio of estimates of the standard error (SE) attributable to the physicians to the SE attributable to the patients. RESULTS: Good reliability and high levels of physician agreement were observed in one or both exercises in the constitutional, mucocutaneous, neurological, cardiorespiratory, renal, ophthalmic and haematological systems. In contrast, the musculoskeletal system did not score as well, although providing more clear-cut glossary definitions should greatly improve the situation. CONCLUSIONS: Some significant changes in the BILAG disease activity index to assess patients with SLE are proposed. The process of demonstrating validity and reliability has started with these two exercises assessing real patients. Further validation studies are under way. BILAG 2004 is likely to be valuable in clinical trials assessing new therapies for the treatment of SLE, as it provides a more comprehensive system-based disease activity measure than has been available previously.
Assuntos
Lúpus Eritematoso Sistêmico/diagnóstico , Índice de Gravidade de Doença , Adulto , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
Psoriatic spondyloarthropathy (PSA) can occasionally be complicated by AA amyloid, and renal amyloidosis should be suspected in patients with PSA who have unexplained proteinuria. The diagnosis of amyloidosis can be made either histologically or by radiolabelled serum amyloid P component (SAP) scintigraphy. Prognosis is determined by the extent of organ involvement and associated impairment of function, and by the degree of response of the underlying disease to anti-inflammatory therapy. A review of the literature identified less than a dozen cases of AA amyloidosis complicating PSA, and the outcome in most cases was poor. We report here the favourable clinical course of a middle-aged Caucasian male patient with severe PSA who developed renal AA amyloidosis, in whom treatment with oral chlorambucil led to stabilization of the amyloid deposits and resolution of the associated nephrotic syndrome. We review the diagnosis and treatment of AA amyloidosis, including the management of patients with underlying inflammatory spondyloarthropathies, and propose the possible role of a therapeutic trial of anti-tumour necrosis factor alpha in patients with amyloid complicating inflammatory rheumatic diseases.
Assuntos
Amiloidose/tratamento farmacológico , Artrite Psoriásica/complicações , Clorambucila/uso terapêutico , Nefropatias/tratamento farmacológico , Espondiloartropatias/complicações , Amiloidose/etiologia , Seguimentos , Humanos , Nefropatias/etiologia , Masculino , Pessoa de Meia-Idade , Proteína Amiloide A Sérica/análiseRESUMO
OBJECTIVE: Mannose binding lectin (MBL) and FcgammaRII (CD32) polymorphisms have both been implicated as candidate susceptibility genes in systemic lupus erythematosus (SLE). The aim of this study was to evaluate the relationship of these polymorphisms with SLE. METHODS: We studied a cohort of 125 SLE patients from Barcelona, Spain and 138 geographically matched controls. Sequence-specific primer-polymerase chain reaction (SSP-PCR) amplification was used to determine CD32 and MBL structural polymorphisms. MBL haplotypes were established using sequence-specific oligonucleotide probing techniques. RESULTS: Patients carried the MBL codon 54 mutant allele more frequently than controls [odds ratio (OR) 2.2; 95% confidence interval (CI) 1.2-4.0; P=0.007] and the haplotype HY W52 W54 W57 was found to be significantly lower in cases compared with controls (OR 0.6; 95% CI 0.4-0.9; P=0.016). CONCLUSION: The MBL gene codon 54 mutant allele appears to be a risk factor for SLE, whilst haplotypes encoding for high levels of MBL are protective against the disease. Differences between controls and patients were not significant when considering the FcgammaRIIa polymorphisms; similar results were observed for renal affectation.
Assuntos
Proteínas de Fase Aguda/genética , Proteínas de Transporte/genética , Lúpus Eritematoso Sistêmico/genética , Receptores de IgG/genética , Proteínas de Fase Aguda/metabolismo , Proteínas de Transporte/metabolismo , DNA/análise , Frequência do Gene , Haplótipos , Humanos , Lectinas/genética , Lectinas/metabolismo , Lúpus Eritematoso Cutâneo/genética , Lúpus Eritematoso Cutâneo/metabolismo , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/metabolismo , Nefrite Lúpica/genética , Nefrite Lúpica/metabolismo , Vasculite Associada ao Lúpus do Sistema Nervoso Central/genética , Vasculite Associada ao Lúpus do Sistema Nervoso Central/metabolismo , Lectinas de Ligação a Manose , Mutação , Reação em Cadeia da Polimerase , Polimorfismo Genético , Receptores de IgG/metabolismo , EspanhaAssuntos
Artrite Reumatoide/genética , Artrite Reumatoide/imunologia , Genes MHC da Classe II , Antígenos HLA-DR , Líquido Sinovial/imunologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise de Variância , Feminino , Antígeno HLA-DR4 , Cadeias HLA-DRB1 , Humanos , Leucócitos/imunologia , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: E-selectin is expressed on cytokine stimulated endothelial cells and plays an important role in leukocyte-endothelium interactions and inflammatory cell recruitment. The gene for E-selectin is located at chromosome 1q 23-25 within the linkage area for systemic lupus erythematosus (SLE). The best characterized polymorphism in E-selectin molecule is A561C, which codes for Ser128Arg. We studied the prevalence of the A561C E-selectin gene polymorphism in patients with SLE and controls from 3 different ethnic populations. METHODS: Three cohorts of patients with SLE (1987 American College of Rheumatology criteria) and matching population controls were studied. These consisted of Caucasians of British Isles descent, Caucasians of Spanish origin, and Caucasians of Turkish origin. We used polymerase chain reaction and restriction fragment length polymorphism to genotype patients and controls. RESULTS: The numbers of patients and controls in each group were: UK (113 and 148), Spanish (145 and 179), and Turkish (93 and 96), respectively. The C allele occurred more frequently in UK and Spanish patients (OR 1.76, 95% CI 1.03-3.0, p = 0.037; and OR 1.84, 95% CI 1.1-3.09, p = 0.019), but not in Turkish patients (OR 1.03, 95% CI 0.55-1.97, p = 0.91). CONCLUSION: In 2 of 3 populations studied, the E-selectin C allele was significantly more common in SLE than in controls. E-selectin may be a susceptibility gene to SLE in these populations. Its role in disease expression and longterm outcomes such as accelerated atherosclerosis requires further study.