HLA-B, DR and DQ antigens polymorphism in Tunisian patients with ankylosing spondylitis (a case-control study).

The objective of the study is to assess the distribution of HLA-B genes, HLA-B27 subtypes, HLA-DRB1 and HLA-DQB1 alleles in patients with ankylosing spondylitis (AS) and in control subjects in the Tunisian population and to compare their distribution with that found in other countries. This is a case-control study that included 100 consecutive patients (85 males/15 females) with AS according to the modified New York criteria and 100 control individuals. HLA-B, B27 subtypes and class II (DR and DQ) typing of all subjects was performed by polymerase chain reaction amplification with sequence-specific primers (PCR-SSP). HLA-B27 was found in 62% of patients against 3% in controls (P = 0.0000, OR = 52.6, 15.6 < CI < 166.7). On the other hand, B*07 and B*51 were significantly decreased in comparison with controls (P = 0.01, OR = 0.3, 0.1 < CI < 0.8 and P = 0.0000, OR = 0.2, 0.1 < CI < 0.4, respectively). Eight B*27 subtypes were identified in the AS group, but the most frequent ones were B*2702 (32%) and B*2705 (24%). Among HLA-DRB1 alleles, a significant increase in DRB1*11 was found in comparison with controls (P = 0.01, OR = 2.2, 1.2 < CI < 4.5). However, DRB1*13 had a negative association with AS (P = 0.01, OR = 0.4, 0.2 < CI < 0.8). For HLA-DQB1 alleles, a significant positive association with DQB1*03 was observed in AS group (P = 0.03, OR = 1.8, 1.0 < CI < 3.4). Multivariate analysis by logistic regression revealed that DRB1*11 and DQB1*03 had no direct links with the disease, but were dependent on the presence of HLA-B27. Moreover, B*07 and B*51 seemed to have independently a negative correlation with AS, but DRB1*13 seemed to depend on B*51. Haplotypes carrying B27 were significantly associated with AS and those carrying B*07 or B*51 were negatively correlated with the disease. In conclusion, our study confirms that B27 predisposes to AS while B*07 and B*51 are negatively correlated with the disease.

Validation of the Tunisian versions of Bath Ankylosing Spondylitis Functional Index (BASFI) and Disease Activity Index (BASDAI).

BACKGROUND: The Bath Ankylosing Spondylitis Functional Index (BASFI) and the Bath Ankylosing Spondylitis Disease Activity (BASDAI) are the most commonly used instruments to evaluate respectively functioning and disease activity in ankylosing spondylitis (AS). OBJECTIVE: The aim of this study was to translate, adapt and validate these instruments into the Tunisian language. METHODS: The studied population consisted of 68 AS patients (59 males and 9 females). Their mean age was 37.9 years (range: 18-76). The mean disease duration was 13.6 years (range: 1-40). After translation and retranslation the BASFI and BASDAI questionnaires were administrated to the patients and tested for reliability, internal consistency and construct validity. RESULTS: The reproducibility of the indices BASFI and BASFAI was good, the intraclass correlation coefficient for reliability was 0.96 (CCI:0.93-0.97) for the BASFI and 0.93 (CCI:0.90-0.97) for the BASDAI, and the coefficient of internal consistency (Cronbach's alpha) was 0.91 for BASFI and 0.90 for BASDAI. Concerning construct validity, both questionnaires were significantly correlated to each other, to the disease-specific instruments (BASG-s, BASMI, BASRI, ASQoL) and to all domains of the SF-36. CONCLUSION: The Tunisian versions of the BASFI and the BASDAI preserve the metrological properties of the original versions and were easy to use for the assessment of disease status in ankylosing spondylitis.

Health-related Quality of Life Assessment on 100 Tunisian Patients with Ankylosing Spondylitis using the SF-36 Survey.

OBJECTIVES: The main objective of the study was to examine the self reported health status in patients with ankylosing spondylitis (AS) compared with the general population and the secondary objective (in the AS group) was to study the association between health status, demographic parameters, and specific disease instruments in AS. METHODS: A cross sectional study of 100 AS patients recruited between 2006 and 2009 at the Department of Rheumatology. Health status was assessed by using the SF-36 health questionnaire in patients with AS. Demographic characteristics and disease-specific instruments were also examined by the questionnaire. A sample of 112 healthy individuals was also surveyed using the SF-36 health questionnaire. RESULTS: This study showed a great impairment in the quality of life of patients with AS involving all scales. All male patients with AS reported significantly impaired health-related quality of life on all items of the SF-36 compared with the general population whereas female patients reported poorer health on three items only, namely physical functioning, general health and bodily pain. Mental health was mostly affected than physical role. The physical role was significantly higher in patients with high education level than in patients with low education level (p=0.01). Physical functioning was better in employed patients. All scales of SF-36 were correlated with BASFI, BASDAI and BAS-G. Only physical functioning and general health were correlated with BASMI. CONCLUSION: Impairment in the quality of life can be significant when suffering from AS, affecting mental health more than physical health. Among disease parameters, functional impairment, disease activity, mobility limitation, and spinal pain were the most associated factors resulting to the deterioration of quality of life.

Impact of the ankylosing spondylitis on the professional activity.

PURPOSE OF THE STUDY: Ankylosing spondylitis (AS) is a chronic inflammatory disease affecting axial skeleton, occurring in young and active patients and often condition their professional prospects. OBJECTIVES: To describe the social and occupational characteristics of patients affected by AS, to estimate the impact of the disease on their professional activity and to determine factors exposing to elevated risk of premature withdrawal from the labor force. METHODS: We had performed a cross-sectional study of 103 patients with AS recruited during 2 years (2005-2007) at the Department of Rheumatology, fulfilling the modified criteria of New York. Demographic, social and professional characteristics were determinated and some disease-specific instruments: BASDAI, BASFI, BASMI, BASG-s, BASRI, as well as an indicator of quality of life: the Short Form Survey-36 (SF-36). RESULTS: It is about 88 man and 15 women, the average age is 37.6 years+/-11.7 (18-59 years). Seventy percent of patients live in urban zone and 17% have an educational level superior to 13 years. The disease duration is on average of 11.2+/-9.6 years. The mean score of BASFI is 45.5+/-27.5 (7-100), the mean score of BASDAI is 45.9+/-22.4 (9-100), the mean score of BASG-s is 53.8+/-21.2, the mean score of BASMI is of 4.4+/-2.2 (3-10), the mean score of BASRI is 8.4+/-3.5 (2-16). Among these patients 95 (92%) are eligible to a professional activity (aged between 18 and 65 years and having ended their studies or vocational training). The global unemployment rate is 25.3%, that's attributed to the disease is 20.6%. Some factors are associated with high risk of work withdrawal: female gender (p=0.0005), low educational level (p=0.02), living in rural zone (p=0.028), manual labor (p=0.038), cold exposing in work place (p=0.006), high work time a week (p=0.02) and the absence of colleague help (p=0.001). For the specific disease indexes, high risk of withdrawal is correlated with high scores of BASFI (p=0.00002), BASDAI (p=0.044), BAS-Gs (p=0.0005) and BASMI (0.0000). Concerning the SF-36, only the item of physical activity is more significantly altered in patient's having stopped their work. CONCLUSION: Several factors are identified to be associated to a high risk of premature working withdrawal in patients affected by AS. Prevention of this risk needs an early diagnosis and treatment of the disease, a vocational guidance, work preliminary training and eventually professional redeployment.

Osteomalacia in a patient with primary intestinal lymphangiectasis (Waldmann's disease).

Primary intestinal lymphangiectasis (PIL), also known as Waldmann's disease, is a rare protein-losing enteropathy characterized by abnormal enlargement of the lymphatic ducts in the bowel wall. The symptoms usually start in early infancy. We report a case of osteomalacia in a 63-year-old patient with delayed-onset of PIL, for which she was on dietary treatment. She presented with a 3-year history of mechanical pain in the back and pelvis. Mild ascites and edema with functional impairment of the lower limbs were noted. The neurological evaluation was normal. Blood tests showed hypocalcemia, hypophosphatemia, alkaline phosphatase elevation, and evidence of intestinal malabsorption. Radiographs of the pelvis disclosed a fracture, Looser's zones in the iliopubic rami and left femoral neck, and a washed-out appearance of the vertebras. Dual-energy X-ray absorptiometry showed bone loss with T-score values of -1.2SD at the lumbar spine and -2.5SD at the femoral necks. A diagnosis of osteomalacia related to vitamin D deficiency was given. Serum 25-OH-vitamin D was 18.2ng/ml (normal, 20-40ng/ml) and serum parathyroid hormone was 620pg/ml (normal, 15-65pg/ml), suggesting secondary hyperparathyroidism. Intramuscular vitamin D was given, together with oral calcium and an adequate diet. At follow-up 8 months later, small improvements were noted in the symptoms and absorptiometry findings.