[Show abstract][Hide abstract] ABSTRACT: Mixed connective tissue disease (MCTD) is a systemic autoimmune disease, originally defined as a connective tissue inflammatory syndrome with overlapping features of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), polymyositis/dermatomyositis (PM/DM) and systemic sclerosis (SSc), characterized by the presence of antibodies against components of the U1 small nuclear ribonucleoprotein (U1snRNP). The aim of the study was to assess the frequency of (high-resolution-typed) DRB1 alleles in a cohort of Polish patients with MCTD (n = 103). Identification of the variants potentially associated with risk and protection was carried out by comparison with the DKMS Polish Bone Marrow Donor Registry (41306 alleles). DRB1*15:01 (odds ratio (OR): 6.06; 95% confidence interval (CI) 4.55-8.06), DRB1*04 (OR: 3.69; 95% CI 2.69-5.01) and *09:01 (OR: 8.12; 95% CI 2.15-21.75) were identified as risk alleles for MCTD, while HLA-DRB1*07:01 allele was found to be protective (OR: 0.50; 95% CI 0.28-0.83). The carrier frequency of the DRB1*01 was higher in MCTD patients compared with controls, although the differences were not statistically significant. Our results confirm the modulating influence of HLA-DRB1 genotypes on development of connective tissue diseases such as MCTD.
[Show abstract][Hide abstract] ABSTRACT: Background:
Suicidal ideation is observed in patients with systemic lupus erythematosus (SLE). No study on this notable phenomenon in neuropsychiatric SLE (NPSLE) is available so far.
Participants were 53 consecutive outpatients with NPSLE (48 women; mean age 43.8 years) diagnosed according to the American College of Rheumatology nomenclature for SLE neuropsychiatric syndromes. A Neuropsychiatric Questionnaire (NP-Q) concerning 45 neurological, cognitive and psychiatric symptoms was used to assess the prevalence of self-perceived neuropsychiatric symptoms. The Modified Hospital Anxiety and Depression Scale (HADS-M) was used to assess the level of anxiety, depression and irritability. Formal neuropsychological examination was performed. Clinical data were collected by means of medical charts review and structured interview.
Suicidal thoughts were present in 25% of patients with NPSLE, irrespective of sex, age, education, work status, disease duration and steroid treatment. Suicidal ideation was connected with elevated levels of depression, anxiety and irritability. In patients with suicidal ideation the prevalence of cognitive, psychiatric and neurological self-perceived problems was significantly higher.
Suicidal thoughts are common in patients with NPSLE. Neuropsychiatric manifestation per se, depression, anxiety and patients' subjective complaints can be risk factors for suicidal ideation. Screening for suicidal thoughts is vital in routine care of SLE patients.
[Show abstract][Hide abstract] ABSTRACT: Background Pulmonary arterial hypertension (PAH) is the predominant cause of morbidity and mortality in mixed connective tissue disease (MCTD). PAH is characterized by the thickening of the small arteries, arterioles of the lungs, development of plexiform lesions, arteritis and intima media hypertrophy. The incidence of PAH in MCTD is estimated between 20% and 30%1-3.
Objectives The aim of the study was to estimate the prevalence of PAH in a cohort of MCTD patients and to search for clinical and immunological predictors of this complication presence.
Methods The study included patients, who fulfilled with Alarcon-Segovia and Kasukawa sets of criteria for MCTD. Clinical features of MCTD, autoantibody profile and serum concentrations of IL-1, IL-10, IL-21, IL-23, TNFα, IFNγ, VEGF were assessed. Transthoracic echocardiography (TTE) was performed in all patients to estimate the pulmonary artery pressures. PAH was defined as systolic pulmonary artery pressure (sPAP) ≥36 mmHg according to current guidelines. The study group consisted of 79 patients with MCTD, including 66 (83.5%) women. The median age of patients at the time of the study was 44 years (18-67).
Results 12 patients (15.2%) developed PAH. PAH was statistically significantly more frequent in men, older patients and patients with first MCTD symptoms after 40 years of age. PAH more often developed in patients with BMI>25 and hypertension. The most common serological abnormality, observed in all patients with PAH but only in 51 patients without this complication (100% vs 76%) was the presence of anti-U1-RNP-C antibodies. Among cytokines only reduced serum levels of TNF-α (28,47 vs 39,68 pg/ml) correlated with PAH. Patients with high disease activity (ILD, vasculitis, neuropathy, renal involvement, arthritis, serositis, myositis, puffy hands and skin lesions) were more prone to develop PAH than patients with mild disease (14,75 vs 8,7).
Conclusions The study showed some clinical correlations of PAH (male gender, BMI >25, hypertension and anti-U1-RNP-C antibodies, low serum levels of TNF-α) that could be useful in defining the patient's profile prone to develop this severe complication. Identifying a subgroup of patients in a risk of development of PAH allows further to applicate early adequate treatment.
Acknowledgements 1 Prakash UBS. Respiratory complication in mixed connective tissue disease. Clin Chest Med 1998;19:733–46.
2 Burdt MA, Hoffman RW, Deutscher SL et al. Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 1999;42:899–909.
3 Prakash UBS. Pulmonary manifestations in mixed connective tissue disease. Semin Resp Med 1988;9:318–24.
Disclosure of Interest None declared
No preview · Article · Jun 2015 · Annals of the Rheumatic Diseases
[Show abstract][Hide abstract] ABSTRACT: Background MCTD is a rare chronic inflammatory disorder characterized by periods of remissions and relapses, leading throughout the years to a damage of involved organs.
Objectives To evaluate activity and damage in MCTD and their clinical correlation.
Methods Since guidelines to evaluate the clinical state of patients with MCTD have not been yet established a set of subjective methods to assess disease activity and damage had to be devised specifically for the purpose of the study. Patients and physicians utilized a 100 mm visual analog scale (VAS) to mark a point along the scale corresponding to their assessment of the disease activity (VASptA, VASdrA) and disease-related damage (VASptD, VASdrD). Patients' functional ability was assessed using Health Assessment Questionnaire – Disability Index (HAQ-DI) while fatigue level – by Krupp's Fatigue Severity Scale (KFSS). Relationship between variables were analyzed by Spearman's rank correlation.
Results The studied population included 104 patients with MCTD (female 83%). Medians of patient's age was 43,5 ys and disease duration - 109,5 mo. Medians of VASptA was 38,4 mm and VASdrA – 20,7 mm. In 4 cases patient's and physician's assessment of disease activity was in full agreement. In 82 cases VASptA was higher, in 18 cases – lower than VASdrA. Patient's versus physician's assessement of disease activity correlated moderately (R=0,44, p<0,001). There was a strong correlation between VASptA and HAQ-DI (R=0,53, p<0001) and moderate/ strong correlation between VASptA and fatigue (R=0,49, p<0,0001). VASdrA correlated with the type of therapeutic program: the highest values on the VAS scale were observed in a group intensively treated patients, while the lowest – in the remission group (VASdrA 30,5 mm v 17,4 mm)1. Median of VASptD was 39,1 mm and VASdrD – 28,1 mm. In 6 cases, assessment of damage by patient was in accordance with physician's opinion, in 70 cases VASptD was higher, in 28 cases – lower than VASdrD. There was high correlation between VASptD and HAQ-DI (R=0,59, p<0,0001) and moderate between VASptD and fatigue (R=0,47, p<0,0001). VASdrD correlated moderately with HAQ-DI (R=0,35, p=0,0003) and disease duration (R=0,36, p=0,0002). Patient's versus physician's assessement of disease damage correlated strongly (R=0,52, p<0,0001)2.
Conclusions Our data provide new and important information on subjective vs. objective assessment of the MCTD activity and damage. Patients'assessement was more severe and correlated with functional disability and fatigue while doctors' assessment was in accordance with objective measurements like disease duration and intensity of treatment.
Disclosure of Interest None declared
No preview · Article · Jun 2015 · Annals of the Rheumatic Diseases
[Show abstract][Hide abstract] ABSTRACT: The study evaluates the psychometric properties of a Polish translation of the Brief Illness Perception
Questionnaire. A total of 276 patients with chronic conditions (58.7% women) completed the
Brief Illness Perception Questionnaire and the Hospital Anxiety and Depression Scale. The internal
consistency of the Polish Brief Illness Perception Questionnaire measured with Cronbach’s alpha was
satisfactory (α = 0.74). Structural validity was demonstrated by significant inter-correlations between
the Brief Illness Perception Questionnaire components. Discriminant validity was supported by the
fact that the Brief Illness Perception Questionnaire enables patients with various conditions to be
differentiated. Significant correlations were found between Brief Illness Perception Questionnaire and
depression and anxiety levels. The Polish Brief Illness Perception Questionnaire thus evaluated is a
reliable and valid tool.
No preview · Article · Jan 2015 · Journal of Health Psychology
[Show abstract][Hide abstract] ABSTRACT: Background. Anxiety is one of the most often emotional reaction among patients with chronic diseases. Literature review indicates that a problem of anxiety coexisting with somatic disease is still underestimated. Objectives. The aim of the present study was to assess a level of anxiety and depression and to examine the prevalence of pathological anxiety among patients with chronic diseases. Material and methods. The study involved 131 patients (69 women, 62 men, mean age: 53.41 ± 13.1, range 20–85) diagnosed with rheumatoid arthritis – 40 patients, systemic lupus erythematosus – 36, myocardial infarction – 35, stroke – 20 patients. Hospital Anxiety and Depression Scale (HADS ) was used. Results. The level of anxiety was significantly higher than depression level – median was 7 and 4 points respectively (p < 0.01). Increased anxiety level (7 points and above in HADS ) was observed in 42.7% (56 patients), increased level of depression in 26.7% (35 patients). Pathological anxiety level (11 points and above) was noted in 23.7% (31 patients), pathological level of depression in 10.7% (14 patients). Increased and pathological level of anxiety was statistically significantly more often observed than those of depression (p = 0.005 and p = 0.006 respectively). Anxiety and depression levels were not correlated with age (p ≤ 0.05) and were higher in women (p = 0.002 and p = 0.015 respectively). Conclusions. 1. In the studied group of patients with chronic diseases increased level of anxiety was more common than increased depressive symptoms, especially in women and irrespective of age. 2. Results justify the assessment of anxiety level and screening for anxiety disorders among chronically ill patients.
No preview · Article · Jan 2015 · Family Medicine and Primary Care Review
[Show abstract][Hide abstract] ABSTRACT: Objectives:
Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with a prevalence of about 10 cases/100,000. It seems that in the pathogenesis of MCTD no individual cytokines/cells, but rather an altered pattern of these markers altogether may contribute to the autoimmune processes and their balance determines disease activity. IL-10, IL-12 and IL-17F as inflammatory cytokines might be an important functional candidate genes for autoimmune diseases including MCTD.
The study group consisted of 66 patients with MCTD and of 106 (163 for IL-12B) healthy individuals. SNPs in the IL-10 (- 592C/A, - 1082G/A), IL-12B (+ 1188A/C) and IL-17F (His161Arg, Glu126Gly) genes were investigated by PCR-RFLP approach.
The frequency of the IL-10-592A and -1082A allele was higher in MCTD patients than in control groups (both p = 0,0000). In addition the -1082G/A IL-10 gene polymorphism was associated with esophageal involvement and with anti-U1-A and -C antibodies. The IL-17 7488A/G variant showed correlation with presence of anti-SmB and anti-dsDNA antibodies, while the IL-17F 7383A/G variant was associated with Sjögren's syndrome and leuco-and thrombocytopenia. Moreover, the IL-12 SNP + 1188A/C showed correlation with sclerodactyly in MCTD patients.
Present findings indicate that IL-10 gene variants may be considered as genetic risk factors for MCTD susceptibility.
Full-text · Article · Aug 2014 · Modern Rheumatology
[Show abstract][Hide abstract] ABSTRACT: Background MCTD is a rare connective tissue disease with many controversies regarding its recognition, clinical course and assessment. The clinical expression of MCTD is the consequence of its complex immunopathology. The chronic systemic inflammation leads to blood vessel destruction and serious internal organ damage. Therefore, early detection of vascular involvement could play an essential role in the diagnostic procedures of MCTD. Nailfold capillaroscopy (NFC) is widely used as a simple, non-invasive technique for investigating microvascular involvement in rheumatic diseases .
Objectives To describe the course of MCTD and its relation to nailfold capillaroscopy patterns.
Methods We analyzed clinical picture and nailfold capillaroscopy patterns (NFC) in 69 patients (pts) with MCTD recognized according to Kasukawa criteria. Clinical data achieved on the day of examination were compared with the data from beginning of the disease collected retrospectively. NFC was performed on the day of examination and analysed by one investigator. NFC changes were classified as normal (grade 0), mild (grade 1), moderate and severe (grade 3, 4). We assessed correlation of NFC changes with clinical symptoms using Spearman’s rank correlation. Study was accepted by Local Ethics Committee.
Results Median of MCTD pts age was 45 years (16 - 66), median of disease duration: 117,8 months (10-420). The beginning of disease was mainly subacute (65%), and its course was more frequently chronically progressive (63,8%). Among features with frequency diminishing from the beginning of disease to follow-up were: arthropathy, puffy hands, SLE –like skin involvement, myositis, serositis and laboratory abnormalities: haematological, hypergammaglobulinaemia and elevation of inflammatory indicators- ESR, CRP. Features with increasing prevalence in the course of the disease were: scleroderma-like skin involvement, interstitial lung disease, secondary Sjögren’s syndrome, pulmonary arterial hypertension. A Raynaud’s phenomenon was observed with similar frequency at disease onset and follow-up. Median of ANA titer was 1:5 840 (1:80 - 1:40 960). Anti-U1 RNP revealed in 98,5% of pts, anti-68kD – in 79,4%, anti-A in 88,2% and anti-C in 80,9% of pts. A NFC abnormality grade 1 was detected in 58% pts, grade 2 and 3 in 17.6%. No abnormalities were observed in 23.5% pts (grade 0). We did not find any correlation between NFC pattern and any clinical and serological features.
Conclusions Our data confirm that the beginning of MCTD is subacute with mild and moderate symptoms. Later, with disease course severe organ involvement and Sjögren’s syndrome occurred, what justifies regular screening and close monitoring of the MCTD patients. Capillaroscopy abnormalities are independent feature but, opposite to systemic sclerosis, they did not correlate with severity of organ involvement.
Disclosure of Interest None Declared
No preview · Article · Jan 2014 · Annals of the Rheumatic Diseases
[Show abstract][Hide abstract] ABSTRACT: Background Irreversible organ damage is a cause of mortality and morbidity in chronic inflammatory diseases. In most of them validated tools for disease damage assessment were prepared. There is no such a method in mixed connective tissue disease (MCTD).
Objectives To estimate disease damage by prepared method in MCTD.
Methods The wide range of clinical assessment of 69 MCTD patients (pts) was performed. Diagnosis was made based on Kasukawa’s criteria. For assessment of damage extend we used index (DI) prepared for the study, based on SLICC/ACR DI, involving organs and systems affected on MCTD clinical course. To each organ involvement point scoring was added. To analyze correlation of DI with demographic and clinical variables Spearman’s rank correlationwas used. Study was accepted by Local Ethics Committee.
Results Median of MCTD pts’ age was 45 years (16 - 66), median of disease duration: 117,8 months (10-420). Median of DI was 3,0 (0- 12). The lowest values of DI: 0-2 were observed in 29 pts (42%), 3-6 in 31 patients (45%) and 7-10 in 7 pts (10%). The most often damage involved: skin, musculoskeletal, cardiovascular and pulmonary system. DI correlated with age of pts (R=0.426; P<0.001), disease duration (R=0.492; P<0.001), age at the diagnosis (R=0.296; P=0.015) and cumulative dose of corticosteroids (R=0.275; P=0.023).
Conclusions Our data confirm that the damage is a great concern in MCTD. Disease damage assessed by the method prepared in the study is related to age of pts, disease duration and cumulative corticosteroids dose.
Disclosure of Interest None Declared
No preview · Article · Jan 2014 · Annals of the Rheumatic Diseases
[Show abstract][Hide abstract] ABSTRACT: Eosinophilic granulomatosis with polyangiitis (EGPA) characterized by the coexistence of asthma, eosinophilia and characteristic histopathologic changes, is one of the primary systemic small vessel inflammation of unknown etiology. Cardiac involvement in the course of EGPA occur in 17-92% of patients affecting poor prognosis and acting major cause of mortality in this group of patients. EGPA should always be considered in the differential diagnosis of acute heart failure, especially in young patients with no risk factors for coronary heart disease, and in patients with the presence of asthma, allergic rhinitis or nasal polyps. A rare complication of cardiac involvement is the thrombus formation in the left ventricular apex requiring anticoagulation. We report a case of 49 year old man with cardiac involvement that mimic acute coronary syndrome and led to the diagnosis of EGPA.
[Show abstract][Hide abstract] ABSTRACT: Sjögren's syndrome is a chronic autoimmune disease characterized by the presence of lymphocytic infiltrates in exocrine glands, mainly salivary and lacrimal glands, which result in xerophthalmia and xerostomia. About half of the patients develop systemic complications, including lymphoproliferative disorders. We report a case of a 27-year-old woman with a diagnosis of Sjögren's syndrome and a suspicion of respiratory system involvement in the course of granulomatosis with polyangiitis. Histopathological examination of a skin lesion suggested marginal zone B-cell lymphoma. After pathological and immunohistochemical evaluation of all available previous biopsy samples and the medical documentation the diagnosis of extranodal marginal zone B-cell lymphoma stage IV according to the Ann Arbor classification was rendered. The patient was referred to the Department of Haematology and was treated with R-CVP (cyclophosphamide, vincristine, prednisone, rituximab).
[Show abstract][Hide abstract] ABSTRACT: Background Diminished physical disability is cause of morbidity in rheumatic diseases. It is well recognized problem in RA, however not yet systematically assessed in MCTD.
Objectives To evaluate physical disability and its connections with clinical variables in patients with MCTD.
Methods The wide range of clinical assessment of 69 MCTD patients (pts) was performed. Diagnosis was made based on Kasukawa criteria. Evaluation of physical disability was measured by HAQ-DI. Its correlations with demographic and clinical variables (clinical and serological features, Body Mass Index (BMI), treatment, disease activity, disease damage) by Spearman’s rank correlation were analyzed. Disease activity was assessed independently at the same time by patient (VASPtA) and physician (VASdrA) with 100 mm visual analogue scale. The same method was used to assess disease damage: VASptD and VASdrD, respectively as well objective method Damage Index (DI) was prepared for MCTD (based on SLICC/ACR DI). Study was accepted by Local Ethics Committee.
Results Median of MCTD pts age was 45 years (16 - 66), median of disease duration: 117,8 months (10-420). Median of HAQ-DI was 1.4 (min 0-max 2.25). No limitation of physical function (HAQ-DI=0) reported 17 pts (25%), mild to medium limitation (HAQ-DI: 0.1-1.0) – 41 pts (59,4%) and medium to severe limitation (HAQ-DI >1,1) – 11 pts (15,9%). HAQ-DI correlated well with disease activity and damage assessed by patient: VASptA: R=0,524; p<0,001; VASptD: R=0,527; p<0,001 and disease damage by DI: R=0,400; p<0,001. Weak correlation HAQ-DI with doctor’s assessment was observed: VASdrA: R=0,243; p=0,045, VASdrD: R=0,284; p=0,019. Among analyzed clinical data statistically significant correlations were found for BMI (R=0,262; P=0,03), patient age (R=0,259; P=0,033).
Conclusions Our data suggest that the physical disability is an important factor describing health status in MCTD patients. In the study, similarly like it was proved in RA , correlations of disability and both disease activity and irreversible damage were observed.
Disclosure of Interest None Declared
No preview · Article · Jun 2012 · Annals of the Rheumatic Diseases
[Show abstract][Hide abstract] ABSTRACT: The aims of the study were to assess cognitive functions (CF) in patients with mixed connective tissue disease (MCTD) and to compare MCTD patients with systemic lupus erythematosus patients with and without neuropsychiatric manifestations (NP-SLE and non-NP-SLE, respectively) in terms of CF.
Neuropsychological examination was performed in 141 patients: 30 with MCTD (24 women, 6 men), mean age: 48.07 years, 37 with non-NP-SLE (36 women, 1 man), mean age: 40.76 years and 74 with NP-SLE (68 women, 6 men), mean age: 41.97 years. Neuropsychological tests and structured interview were used. Emotional state was assessed by Hospital Anxiety and Depression Scale and clinical review.
We observed cognitive impairment in six MCTD patients (20%); in one (3%) the impairment was severe. MCTD patients achieved significantly higher results in seven out of 11 tests compared with patients with NP-SLE. MCTD and non-NP-SLE patients did not differ significantly. The differences were irrespective of premorbid IQ, education, disease duration and steroid treatment.
In the majority of MCTD patients, CF were not impaired and severe impairment was unusual. Cognitive functioning was most disturbed in NP-SLE. The cognitive deficits observed in connective tissue diseases can be connected with nervous system involvement.
[Show abstract][Hide abstract] ABSTRACT: The macrophage activation syndrome (MAS) is a rare and potentially fatal disease. This syndrome is founded on congenital or acquired dysfunction of NK cells resulting in secondary activation and proliferation of macrophages with excessive cytokine production and organ infiltration. Causes of acquired MAS include viral infections (chiefly EBV and CMV), malignancies, and autoimmune diseases. The macrophage activation syndrome is usually associated with juvenile idiopathic arthritis and adult-onset Still's disease and rarely with rheumatoid arthritis, systemic lupus erythematosus, dermatomyositis, and systemic sclerosis. Fever, hepatosplenomegaly, lymphadenopathy, and bi- or pancytopenia in peripheral blood represent typical symptoms of MAS. Hyperferritinemia, hypertriglyceridemia, hypertransaminasemia, and hypofibrinogenemia are among the common laboratory findings. The macrophage activation syndrome is a life-threatening condition requiring aggressive therapy due to multiple organ dysfunction. Treatment also includes elimination of the triggering infection and high-dose glucocorticosteroids. Second-line therapy is based on cyclosporin, intravenous immunoglobulins, and etoposide. The present work focuses on diagnostic and therapeutic difficulties in three patients with the macrophage activation syndrome.
Full-text · Article · Jan 2012 · Annales Academiae Medicae Stetinensis
[Show abstract][Hide abstract] ABSTRACT: Global disease activity measurement in systemic lupus erythematosus (SLE) patients is important for the clinical estimation and adjustment of therapy. By contrast, immune system activation plays a significant role in disease pathogenesis, with CD4+ lymphocytes acting as central cells in the immune response. We investigated which scale better correlates with immunologic changes in the blood of SLE patients, the SLE Disease Activity Index (SLEDAI) or the Systemic Lupus Activity Measure (SLAM) scale. Samples of peripheral blood were obtained from 45 SLE patients with different disease activity as assessed by the SLEDAI and the SLAM scales on the same day. We assessed the percentage of CD4+ T cells with activation-associated receptors: CD69, CD25int, CD95, HLA-DR, and CD4+ T cells with killing properties containing perforin and granzyme B. Our results indicated that the percentage of CD4+CD69+ and CD4+CD25(int) cells did not correlate with either the SLEDAI or the SLAM scale. Significant and positive correlations were observed between percentages of CD4+CD95+ and CD4+HLA-DR+ lymphocytes and SLE activity, but only when activity was measured using the SLAM scale, not with the SLEDAI scale. The percentage of CD4+perforin+ and CD4+granzyme B+ cells also strongly correlated with disease activity measured only with the SLAM scale. We conclude that the SLAM scale better reflects changes of immune system activity in SLE patients compared with the SLEDAI scale.
No preview · Article · Aug 2011 · Human immunology
[Show abstract][Hide abstract] ABSTRACT: To evaluate the usefulness of neuropsychological tests in order to distinguish the first-choice methods useful in quick detection of cognitive impairment in SLE and preliminary diagnosis of neuropsychiatric manifestation. Study aimed at assessment of the prevalence and severity of cognitive deficits in SLE patients and comparison between SLE patients with neuropsychiatric manifestations (NP-SLE) and without ones (non-NP-SLE).
93 out of 104 SLE patients, 57 with NP-SLE and 36 with non-NP-SLE underwent comprehensive neuropsychological examination. Tailor-made structured interview for neuropsychological assessment in SLE (SISLE) was used. Patients' emotional state was assessed by clinical interview and HADS.
Cognitive dysfunction was identified in 57% of SLE patients, 48.4% in 1-3 tests, 8.6% (8 patients) in 4 or more tests (severe decline). Among impaired patients 15% had severe decline. In NP-SLE group 63.2% were impaired vs. 47.2% in non-NP-SLE group. All 8 patients with severe decline were NP-SLE. The dysfunction was irrespective of premorbid intellectual level, age, education, disease duration and steroid treatment. In NP-SLE significantly lower scores were observed in 8 tests (10 parameters).
Cognitive dysfunction is frequent in SLE patients. The majority of patients has mild deficits, but severe decline is also observed. The dysfunction is more frequent and more pronounced in NP-SLE. The study distinguished 8-test-first-choicebattery useful in detecting cognitive impairment in SLE and in case of severe decline - in preliminary differentiating NP-SLE and non-NP-SLE. Structured interview for psychological/neuropsychological examination of SLE patients is a useful and required tool for a standard patients' assessment.
Preview · Article · Mar 2011 · Clinical and experimental rheumatology
[Show abstract][Hide abstract] ABSTRACT: Systemic lupus erythematosus and Still's disease are chronic autoimmune disorders of unknown etiology. Symptomatology of these diseases may be similar causing diagnostic difficulties. Long-term observation and immunological studies are essential to identify the definite disorder. We present a case of a 24-year-old patient with high fever, sore throat and arthritis. During hospitalization rash accompanying fever, nodular erythema, pulmonary changes, liver damage and splenomegaly were observed. Although initially adult-onset Still's disease was diagnosed according to the Yamaguchi criteria, the diagnosis of systemic lupus erythematosus was made after re-analysis of the clinical course and immunological tests.
No preview · Article · Jan 2011 · Przegla̧d lekarski
[Show abstract][Hide abstract] ABSTRACT: The history of mixed connective tissue disease (MCTD) started 40 years ago as a result of long-term observation of patients with features resembling systemic lupus erythematosus (SLE), scleroderma and poly- or dermatomyositis. A high titre of antiextractable nuclear antigen antibodies (anti-ENA) in these patients was also revealed. This paper presents formation of views on clinical aspects of MCTD, development of diagnostic methods identifying antigens involved in disease initiation and modern technique appliance in defining pathogenic mechanisms (Table I). Looking at the growing knowledge on MCTD we can follow 40 years of medicine progress.
[Show abstract][Hide abstract] ABSTRACT: Acquired haemophilia (AH) is a rare disease caused by the spontaneous development of autoantibodies against coagulation factor VIII, with an incidence of at least 1.3-1.5 per million per year. More than half of AH cases is idiopathic. Other cases of acquired haemophilia are associated with connective tissue disease like SLE, RA and Sjogren's syndrome. Malignancy, pregnancy, postpartum period and some medications may also be the causes of AH. Unlike congenital haemophilia, which occurs in males, acquired haemophilia occurs in both sexes, appears suddenly and the course of the disease may be fulminant and severe. In AH, bleeding into the joints is rare while extensive ecchymosis and mucous bleeding dominate. We report the case of a 27-year-old female patient, with an 8-year history of systemic lupus erythematosus (SLE), who developed acquired haemophilia caused by factor VIII inhibitors. The patient manifested spontaneous ecchymosis (Fig. 1-3). She was diagnosed in the active phase of SLE based on the presence of the high level of anti-double stranded DNA antibodies, low level of complement, anaemia and proteinuria of over 1.3 g/day. Coagulation tests showed isolated prolongation of the activated partial thromboplastin time, 98 s (26-37 s). She was tested negatively for lupus anticoagulant (LA). FVIII activity was found to be reduced to 0.3%. Autoantibody against FVIII has a very high titre (49 Bethesda units). The patient was successfully treated with intravenous steroids and cyclophosphamide pulse therapy, followed by 60 mg/day prednisone in combination with oral cyclosporine (CsA) administration. The inhibitor level was gradually reduced with an improvement in FVIII activity (Table I). There has been no recurrence of the disease after 1-year follow-up due to treatment with 10 mg/day prednisone and CsA (150 mg/day). She is in remission without proteinuria and skin changes.
[Show abstract][Hide abstract] ABSTRACT: Takayasu's arteritis (TA) is a granulomatous inflammation of the aorta and its major branches, usually occurring in young women. The disease is rare in Europe. The aim of this study was to describe clinical manifestations of TA among patients at the Department of Connective Tissue Diseases, University Medical Center in Gdańsk.
We conducted a retrospective data analysis and performed a clinical examination of the patients. All patients met ACR criteria for TA. The mean age at disease onset was 26 years and the mean diagnostic delay was 19 months. Four out of 12 patients had a history of extensive stroke. Bypass surgery or balloon angioplasty was done in four patients. One patient underwent aortic valve replacement.
Early diagnosis and pharmacologic treatment may significantly improve the prognosis in TA.
No preview · Article · Jan 2010 · Annales Academiae Medicae Stetinensis