Prognostic value of hypermetabolic bone sarcoidosis observed by 18F-fluorodeoxyglucose positron emission tomography.

OBJECTIVES: Sarcoidosis is a multisystemic granulomatosis diagnosed mainly in young adults.18F-fluorodeoxyglucose (18F-FDG) positron emission tomography-computed tomography (PET-CT) is useful in sarcoidosis cases to search for a biopsiable site or assess disease activity.18F-FDG PET-CT can reveal bone hypermetabolism in sarcoidosis patients, even in the absence of osteoarticular symptoms. The aim of this study was to describe metabolic bone involvement in sarcoidosis patients and to evaluate its prognostic impact. METHODS: This was an observational, comparative, retrospective, monocentric study. Inclusion criteria were a confirmed diagnosis of sarcoidosis according to the World Association of Sarcoidosis and Other Granulomatous Diseases (WASOG) criteria and at least one 18F-FDG PET-CT scan during follow-up. Metabolic bone involvement of sarcoidosis was defined as focal bone hypermetabolism with no argument for a differential diagnosis of bone 18F-FDG uptake. Patients with and without bone involvement were compared. RESULTS: Among the 175 included patients, 32 (18%) had metabolic bone involvement of sarcoidosis. The metabolic bone involvement was mainly axial and mostly without bone abnormalities on CT. Metabolic bone involvement was associated with intrathoracic and extrathoracic lymph node involvement and with a higher number of organs involved. Patients with metabolic bone involvement more frequently received corticosteroids, methotrexate and tumor necrosis factor (TNF)-α inhibitors and a higher number of treatments. Relapse of sarcoidosis occurred sooner in patients with metabolic bone involvement. CONCLUSION: These results suggest that metabolic bone involvement is associated with more diffuse and more severe sarcoidosis.

Pulmonary manifestations in antisynthetase syndrome.

INTRODUCTION: Pulmonary manifestations are frequent in patients with antisynthetase syndrome which is a particular form of inflammatory myopathies. AIM: The aim of this study is to describe clinical features and long term outcome of interstitial lung disease in these patients. METHODS: This is a retrospective descriptive study in an internal medicine department. Patients with antisynthetase syndrome hospitalized from 2000 to 2014 were collected. RESULTS: There were nine patients; five women and four men. The mean age at diagnosis was 54.4 ±11.2 years. Interstitial lung disease was observed in all cases and revealed the disease in five cases. The more frequent aspect in high resolution computer thoracic scan was ground-glass opacities (n=8). Traction bronchiectasis and septal thickening were noted each one, in five cases. Honeycombing was observed in one case. Restrictive syndrome was noted in 4/4 cases. All patients received corticosteroids. Two patients were treated with methotrexate for myositis. Intravenous cyclophosphamide was used in five patients (at diagnosis for severe interstitial lung disease in three cases and after pulmonary function worsening in two other cases). Improvement was noted in seven patients. Two patients died after pulmonary symptom worsening and respiratory insufficiency. CONCLUSION: Interstitial lung disease in patients with antisynthetase syndrome may have a poor prognosis and should be treated at time. Altough the optimal therapy was not clearly established, corticosteroids are considered to be the first line therapy. Immunosuppressive agents as cyclophosphamide, azathioprine or methotrexate may be used in some cases.

Association of systemic beta-defensin-1 and -20G/A DEFB1 gene polymorphism with Behçet's disease.

BACKGROUND: Behçet's disease (BD) is a multisystem inflammatory disease of unknown etiology. Beta-defensins are antimicrobial peptides involved in epithelial host defense. To explore whether beta-defensins might be involved in BD pathogenesis, we examined plasma human beta-defensin-1 (hBD-1) and DEFB1 -20G/A polymorphism in BD patients. METHODS: This case-control study included 106 BD patients fulfilling the criteria of the International Study Group for BD and 156 controls. The -20G/A genotypes were determined by PCR-RFLP analysis in all participants, and plasma hBD-1 was assessed by ELISA in 77 BD patients and 44 controls, only. Stepwise multiple regression models were applied to determine independent predictors for plasma hBD-1 in BD patients. RESULTS: Distribution of -20G/A genotypes was different between BD patients and controls. Compared to GG genotype, "GA" genotype [OR (95% CI), 3.12 (1.56-6.16); p = .001] and "AA" genotype [2.57 (1.10-5.96); p = .027)] were associated with increased risk for BD. Plasma hBD-1 concentrations were significantly higher in BD patients than controls (9.81 ±â€¯3.52 ng/mL vs. 5.30 ±â€¯3.02 ng/mL; p < .001), and in BD patients with neurological involvement than those without (11.1 ±â€¯4.12 ng/mL vs. 9.19 ±â€¯3.10 ng/mL; p = .040). No variation was noted according to other clinical features, treatment received or -20G/A genotypes. In multivariate analysis, neurological involvement was the only predictor for plasma hBD-1 (ß, 0.274; p = .029). CONCLUSIONS: Findings suggest that hBD-1 and its encoding gene DEFB1 could modulate the risk for BD, especially for BD neurological involvement. Further work is needed for a better understanding of role of hBD-1 and its genetic variants in the pathogenesis of BD.

Central Retinal Vein Occlusion Revealing Coeliac Disease.

INTRODUCTION: Thrombosis has been widely reported in coeliac disease (CD) but central retinal vein occlusion (CRVO) is rarely described. CASE PRESENTATION: A 27-year-old woman presented with acute visual loss and was diagnosed with CRVO. Her protein S and protein C levels were low and CD was diagnosed on the basis of endoscopic, immunological and histological results. A gluten-free diet resulted in favourable evolution. CONCLUSION: CD should be considered in young patients with thrombosis, especially if in an unusual location. Treatment is based on a gluten-free diet. LEARNING POINTS: Coeliac disease (CD) should be considered in young patients with central retinal vein occlusion (CRVO).Several mechanisms can cause thrombosis in CD.CRVO in CD is often reversible with a gluten-free diet.

Comparison of clinical features of Behcet disease according to age in a Tunisian cohort.

Behcet's disease (BD) is a multisystemic inflammatory disease that occurs most often between the second and fourth decade of life. Patients have been reported during the first months of life and after 70 years. Our objective was to determine the clinical, paraclinical and genetic characteristics of BD in patients aged < 20 and > 40 years. We conducted a comparative retrospective study including patients with BD (Criteria of International Study Group on BD). Patients were divided into two groups: those < 20 years (Group one) and those > 40 years (Group two). The clinical, paraclinical and genetic (HLA) characteristics were determined and compared in the two groups. The data were compiled and analyzed using SPSS 11.0. Thirty totals of 430 patients were included. Group one included 81 patients (55 men and 26 women). Group two included 68 patients (45 men and 23 women). Cutaneous involvement (88.9 versus 76.5%; P=0.043), pseudofolliculitis (84 versus 64.5%; P=0.004) and vena cava thrombosis (11.11 vs 0%; P=0.004) were significantly more frequent in group one while joint involvements were more common in group two (57.4 versus 40.7%; P= 0.043). The frequency of erythema nodosum as well as ocular, vascular and neurological disorders was comparable between the two groups. Few studies in the literature have compared the clinical, paraclinical and genetic characteristics of BD, who had first symptom onset after 40 years of age. Late-onset BD, usually, affects both genders equally. According to present results, the frequency of severe organ involvement is equal regardless of age, except for vena cava thrombosis.

Characteristics of neurological manifestations of Behçet's disease: a retrospective monocentric study in Tunisia.

OBJECTIVE: The aim of the present study was to analyze demographic, clinical and genetic features of Behçet's disease patients with neurological involvement through a monocentric study of a homogenous group of hospitalized patients observed in the same department and to compare them with those of other ethnic and geographic groups. METHODS: Four hundred and thirty Behçet's disease (BD) patients were retrospectively studied. Diagnosis of BD was made according to the international study group for Behçet's disease criteria. Patients with neurological findings suggestive of involvement of the nervous system by BD were further studied according to clinical examination, laboratory tests and neuroradiological investigations. RESULTS: Neurological involvement was observed in 121 patients (28.1%). The mean age at neuro-Behçet's disease (NBD) onset was 29.7 years. Average disease duration of BD before neurological manifestations onset was 6.4 years. Male to female ratio was 1.8. Of the 121 NBD patients, parenchymal involvement occurred in 74 patients (61%). Among them 26 (21.4%) presented with brainstem involvement, 24 (19.8%) with hemispheric involvement and 2 (1.6%) with spinal cord involvement. Non-parenchymal NBD occurred in 47 patients (39%). Involvement of the main vascular structures (Vasculo-NBD) was the most common non-parenchymal NBD lesion found in 35 patients (28.9%) consisting of cerebral vein thrombosis (CVT) in 24 cases and cerebral arterial thrombosis in 11 cases. Forty-nine (40.5%) patients with NBD have been followed-up for a median of 3 years (range 1-19 years). Forty-one of them recovered well without significant residual disability, 5 patients made no improvement and are left with severe neurological impairments and 3 died. Male gender and CNS parenchymal lesions occurrence were significantly associated with a poorer prognosis. CONCLUSION: Clinical and epidemiological features of NBD are various. In our Tunisian cohort of NBD patients the main characteristic features were male predominance, a relatively high prevalence of CVT, a low prevalence of intra-cranial hypertension and a significant lower frequency of HLA-B51 haplotype.

Contribution of Hla-B51 in the susceptibility and specific clinical features of Behcet's disease in Tunisian patients.

BACKGROUND: Many researchers have tried to investigate the association of HLA-B51 with the severity and the clinical features of BD with conflicting results. METHODS: We aimed at investigating the association of HLA-B51 with demographical and clinical manifestations as well as the severity of BD, by studying 178 native Tunisian BD patients, fulfilling the International Study group criteria for the BD classification recruited from the Department of Internal Medicine, Rabta Hospital in Tunis and compared with 125 native Tunisian healthy age and sex matching volunteers. RESULTS: According to our findings, the frequency of HLAB 51 was significantly higher in BD patients than in controls (p<0.001). Positive pathergy test (PPT) (p = 0.01) and retinal vasculitis (p = 0.045), were significantly more frequent in HLA B51(+) patients, while the frequency of arterial aneurysms (p = 0.009) and neurological involvement, especially the parenchymal involvement (p<0.001), were significantly and clearly higher in HLA B51(-) patients. The patients without HLA B51 had a significantly less severe disease (p = 0.001). Discussion/conclusion We conclude that HLA B51 is a predisposing marker for BD in our population as in most ethnic groups. It seems to be associated with a subgroup of BD patients characterized by a higher frequency of ocular involvement and PPT, but a lower frequency of arterial aneurysm and neurological involvement, and a less severe disease course.