Meral Konice

Familial aggregation of Behçet's disease in Turkey

OBJECTIVE Familial aggregation of Behçets disease has been reported previously. The current study aimed at investigating the sibling recurrence risk ratio (λs) for Behçets disease, which is of value in the estimation of the magnitude of genetic factors in the pathogenesis of Behçets disease. METHODS 170 consecutive unrelated index cases (98 male, 72 female) were interviewed with a detailed questionnaire to ascertain their family trees and the manifestations of Behçets disease in their relatives. Subsequently, the immediately older sibling, or if an older sibling was not available, the immediately younger sibling, was selected as the second sibling for the evaluation. These siblings were contacted by telephone, and all subjects with recurrent oral ulcers were invited for examination. RESULTS 31 of the 170 index cases had 51 relatives fulfilling the International Study Group criteria. Among 166 second siblings, seven had Behçets disease (six male, one female) and 22 siblings (eight male, 14 female) with recurrent oral ulcers were identified. Sibling recurrence rate—defined as the ratio of the risk of being affected among the siblings of patients and the risk of being affected in the general population— was found to be 4.2%, which gives a λs value for Behçets disease of between 11.4 and 52.5 in Turkey. CONCLUSIONS A high λs value supports a strong genetic background for Behçets disease which will be helpful in designing genetic linkage studies.

Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases

It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begins before 20 years of age in most patients. In this study, we aimed to investigate the demographic and clinical characteristics of our FMF patients with an age of onset ≥20.

Comparative study of the skin pathergy test with blunt and sharp needles in Behçet's disease: confirmed specificity but decreased sensitivity with sharp needles.

OBJECTIVE--To compare the specificity and sensitivity of the skin pathergy test performed with blunt and sharp needles in patients with Behçets disease. METHODS--The skin pathergy test was performed using the simultaneous four needle prick method with blunt and sharp, thick and thin needles in 92 patients with Behçets disease, 64 healthy controls, and 128 patients without Behçets disease. The test was evaluated at 48 hours. RESULTS--No positive skin pathergy test was found in healthy controls and patients without Behçets disease. The frequency and intensity of the positive skin pathergy test with blunt needles were significantly higher than those with sharp needles. CONCLUSION--This study reconfirmed the specificity of a positive skin pathergy test for Behçets disease using blunt and sharp needles and showed a decreased sensitivity and intensity of the reaction with sharp needles.

Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey.

OBJECTIVES Ankylosing spondylitis is strongly associated with HLA-B27. However, the strength of the association with HLA-B27 and the clinical features may vary in different parts of the world. The aim of this study is to compare the clinical features of AS and the frequencies of HLA-B27 and its alleles in patients from Turkey with other series. METHODS One hundred and twelve patients (72 male/40 female) fulfilling the modified New York criteria for the classification of AS and 55 (27 male/28 female) healthy controls were typed for HLA-B27 and allele frequencies by sequence specific primer (PCR/SSP) method and assessed for clinical manifestations. RESULTS Male to female ratio was 1.8, mean age at disease onset was 23.5 and 24.1% of patients reported juvenile onset of symptoms. Peripheral arthritis was seen in 52.7% of patients. Family history (p=0.01) and peripheral arthritis (p=0.02) were more frequent in females and spinal involvement in males. HLA-B27 was found to be positive in 70% of patients and associated with younger mean age, uveitis and shorter time elapsed from symptom to diagnosis. The frequency of HLA-B27 alleles associated with SpA was not different between ankylosing spondylitis patients and healthy controls. CONCLUSION Low frequency of HLA-B27 and clinical variations in ankylosing spondylitis may be due to different genetic and/or environmental factors in Turkey.

Primary antiphospholipid syndrome associated with mesenteric inflammatory veno-occlusive disease

SummaryWe describe a 24-year old Caucasian man with gangrene of small bowels and intestinal resection due to mesenteric inflammatory veno-occlusive disease (MIVOD) who later developed deep vein thrombosis in his left leg. He had no clinical evidence of an underlying symptomatic connective tissue disease or Behçets disease. An IgG anticardiolipin antibody titre above 60 GPL unit/mL and thrombocytopenia confirmed the diagnosis of primary antiphospholipid syndrome (APS). This is the first known case of APS associated with MIVOD.

Anti-CCP and antikeratin antibodies in rheumatoid arthritis, primary Sjogren's syndrome, and Wegener's granulomatosis

The objective of this study was to investigate the frequency of antibodies against cyclic citrullinated peptides (anti-CCP) and keratin (AKA) in patients with rheumatoid arthritis (RA) as well as in patients with primary Sjögren’s syndrome (pSS) and Wegener’s granulomatosis (WG), who may present with rheumatoid factor (RF)-positive arthritis. The study group consisted of 46 patients with RA (26 patients were negative for RF), 32 with pSS, 22 with WG, and 40 healthy controls. The RF, anti-CCP, and AKA were detected in serum using the latex agglutination test, enzyme-linked immunosorbent assay, and indirect immunofluorescence, respectively. The agreement between those tests was evaluated by kappa test. No positive result for AKA was detected in pSS and WG patients, and anti-CCP was found in only one patient with pSS. The results of kappa tests were low, varying between 0.25 (RF-anti-CCP) and 0.02 (RF-AKA). The sensitivity and specificity values were 43 and 44% for RF, 65 and 98% for anti-CCP, and 58 and 100% for AKA, respectively, in RA patients. In the RF-negative RA group, AKA was found to have a high frequency (55%) in comparison to anti-CCP (38%). Seropositivity was found to be 87% for any one of the three autoantibodies tested in RA patients. With a higher specificity, values for RA, anti-CCP, and AKA seem to be helpful for the differential diagnosis of patients with RF-positive arthritis, which may include patients with WG and pSS, and screening of all three antibodies may increase the diagnostic performance.

Characteristics of patients with late onset systemic lupus erythematosus in Turkey

Systemic lupus erythematosus (SLE) is a multi‐system autoimmune disorder mainly affecting young women. In this study, we aimed at investigating the clinical, laboratory and management characteristics of our SLE patients with an age of onset ≥50.

Predictors of Damage and Survival in Patients with Wegener’s Granulomatosis: Analysis of 50 Patients

Objective. To evaluate damage features and impact on survival by Vasculitis Damage Index (VDI) in a cohort of Turkish patients with Wegener’s granulomatosis (WG). Methods. We enrolled 50 (25 female) patients with WG according to ACR criteria. Birmingham Vasculitis Activity Score (BVAS) and VDI were used to analyze disease activity and damage. Results. Patients had kidney (82%), upper airway (72%), lung (70%), and nervous system (15%) involvement. Median age at diagnosis was 45 years, time to diagnosis was 3.5 months, and total followup time was 35.5 months. All but one patient was positive for antineutrophil cytoplasmic antibodies (ANCA). Mean final dose and duration of corticosteroid and cyclophosphamide was 15 ± 14 g, 39 ± 33 months and 36 ± 34 g, 21 ± 2 months, respectively. Mean early (e) BVAS were 20.2 ± 7.1 (4–38) (median 21). Mean e-BVAS and e-VDI scores at presentation and final (f)-VDI scores at last visit were 20.2 ± 7.1 (4–38), 3.1 ± 1.7 (median 3) (0–7) and 4.4 ± 2.6 (0–12), consecutively. Disease related damage was prominent in kidneys (50%) and upper airways (27%). Amenorrhea (90%), cataract (28%), and diabetes (24%) were the most frequent treatment related damages. Rapidly progressive glomerulonephritis at presentation (42%) progressed to endstage renal failure in 20%. Relapses occurred in 25% with mean BVAS of 6.5 ± 2.3 (4–11). Survival rate was 77% at 37 months. Deaths occurred early (90% in the first year). f-VDI was high in patients who relapsed (6 ± 3 vs 3.8 ± 2.1, p = 0.03). Logistic regression analysis demonstrated that age at time of diagnosis and e-VDI were lower in survivors with OR = 0.9 (p = 0.06, 95% CI: 0.78–1) and OR = 0.5 (p = 0.04, 95%CI: 0.25–0.98), respectively. In this cohort, e-VDI score of 5 or more was related to death with 98% sensitivity and 56% specificity (p = 0.004) (CI: 0.66–0.95). Conclusion. Disease related damage outweighed treatment related damage in our cohort of predominantly generalized disease activity. Early damage and older age were found to be predictors of final damage and death.

HLA B-27 subtypes in turkish patients with spondyloarthropathy and healthy controls

The frequency and the distribution of HLA-B27 subtypes in spondylarthropathy (SpA) patients and controls were investigated in a sample Turkish population. B27 subtyping was performed by PCR-SSP method in two groups: 49 unrelated HLA-B27 positive Turkish patients with the diagnosis of SpA according to the European Spondyloarthropathy Study Group Criteria, and 55 HLA-B27 positive healthy controls. The frequency of HLA-B∗27 was 2.6% in the Turkish population, and B∗2705 was the predominant allele among patients with SpA. The difference was mainly between male patients and male controls The proportion of B∗2705 among B27-positive patients and controls was significantly different (P = 0.02). Our study supports other reports from different populations which showed that B∗2705 and B∗2702 were more frequent in Caucasian patients with SpA.

The use of two different Health Assessment Questionnaires in Turkish rheumatoid arthritis population and assessment of the associations with disability.

Abstract: The aim of this study was to compare and evaluate the Health Assessment Questionnaire (HAQ) and Arthritis Impact Measurement Scale (AIMS) in our patient population with rheumatoid arthritis (RA) and also to find some associations with clinical assessment of disability. One hundred and twenty-three consecutive adult patients with RA were included in the study. Pain, and global assessments by patients and physicians were recorded using a 10 cm visual analogue scale. Each patient completed the HAQ and AIMS questionnaires. Correlations among tender and swollen joint counts, erythrocyte sedimentation rate, pain, and AIMS anxiety and depression scores were all investigated. Pearson correlation was used to assess the possible correlations between each questionnaire and clinical variables. Pain and the AIMS subscales of mobility, dexterity, social activity and activities of daily living correlated with global assessments by patients and physicians, and tender joint counts. Depression correlated with pain and disability (HAQ). It was also of note that we observed high intercorrelation between the global assessments of physicians and patients. It was concluded that a measure of functional status, patient global assessment and pain score should be considered as important in the evaluation of RA patients. Measuring psychological well-being also provides further information. The HAQ, with the addition of the anxiety and depression sections of AIMS (CLINHAQ), provides the advantage of a global evaluation of these chronically ill patients.