T. Ben Salem

Successful treatment of refractory adult onset Still’s disease with rituximab

Adult-onset Stills disease (AOSD) is an uncommon inflammatory condition of unknown origin. In chronic disease, joint involvement is often predominant and erosions are noted in one third of patients. Therapeutic strategies derive from observational data. Corticosteroids are usually the first-line treatment. With inadequate response to corticosteroids, methotrexate appears the best choice to control disease activity and allow for tapering of steroid use. For refractory disease, biological therapy seems the most promising. We report here the case of a 38-year-old female patient with AOSD refractory to cytotoxic agents, treated by rituximab infusion therapy with favorable outcome.

Inflammatory optic neuropathy in Behçet’s disease

Inflammatory optic neuropathy (ON) is a rare event in Behçets disease (BD). We report herein a series of ten BD Tunisian patients with ON and describe its clinical features among them. A retrospective review of BD patients (International Study Group for BD criteria) was performed. The patients were divided into two groups: those presenting an inflammatory ON, and those none. The diagnosis of inflammatory ON was based on the clinical examination, visual field and visual evoked potentials. We analyzed the characteristics of the two groups. Ten patients (2.3%) presented an inflammatory ON among our 440 patients. Inflammatory ON was inaugural in 8 cases. Clinical manifestations were as follows: blurred vision (7 cases) and periorbital pain (3 cases). In two cases, the patients did not complain from ophthalmological symptoms. The fundus revealed a papilledema (2 cases), papillary pallor (4 cases), and was normal in 5 cases. Visual field realized in only three patients showed a scotoma in all cases. Visual evoked potentials revealed increased latency in all cases. All patients received corticosteroids associated to an immunosuppressive agent. The comparative study between the two groups revealed that inflammatory ON was significantly more associated to neurological involvement (p<0.0001) and that the disease was more severe in the ON group (p<0.0001). Inflammatory ON in BD is rare and may occur at an early stage of the clinical course of the disease. Its prevalence is certainly underestimated. A systematic visual evoked potential may be interesting as a screening tool.

Microscopic Polyangiitis Associated with Primary Biliary Cirrhosis, Sjogren's Syndrome and Hashimoto's Thyroiditis

The association between microscopic polyangiitis (MPA) and primary biliary cirrhosis (PBC) has seldom been reported. We describe here a patient who presented with sensorimotor neuropathy along with hypothyroidism, renal failure and liver dysfunction. Detection of antinuclear antibodies at a titer of 1/800, anti-SSA, anti-SSB, anti-GP210, anti-microsomial and p-ANCA anti-myeloperoxydase antibodies along with renal, salivary and liver biopsy led to a diagnosis of MPA associated with PBC, Sjogrens syndrome and Hashimotos thyroiditis.

Granulomatosis with polyangiitis in Tunisia

Granulomatosis with polyangiitis (GPA) is more frequent in Northern rather than Southern countries. Very few studies have been conducted in Africa. We have performed a retrospective descriptive study including clinical and laboratory profiles of 30 Tunisian GPA patients seen at the department of Internal Medicine of the University Hospital of la Rabta from 2000 to 2014. Mean age at initial GPA diagnosis was 46±12 years, and the average number of months between the onset of symptoms and diagnosis was 25. Seventeen (56%) were male, and 13 (44%) were female. Ear/nose/throat involvement occurred in 83%. Lung and renal involvement were observed in respectively 70% and 56% followed by mucocutaneous (50%), neurological (50%), ocular (33%), vascular (20%), ureteral (16%), and cardiac involvement in 10%. Cytoplasmic pattern-antineutrophil cytoplasmic antibodies (ANCA) was detected in 27 (90%) patients. Induction therapy consisted of intravenous cyclophosphamide pulses in 27 patients (90%) and oral methotrexate in 3 patients (10%). Trimethoprime-sulfamethoxazole was used in 26 patients (86%). Maintenance therapy consisted of azathioprine in 17 cases and methotrexate in 13 cases. Relapses occurred in 36%. Eighteen patients had favorable outcome and 12 died. Our patients had a distinct phenotype with high prevalence of pleural involvement, lymph node enlargement, sensorimotor neuropathy and ureter stenosis. ENT symptoms were less frequent as inaugural presentation. Overall 2-year survival was 60%.

Amyloidosis in Behcet′s disease

Behcets disease (BD) is a multisystem vasculitis with protean manifestations. It is characterized by a heightened state of inflammation, although the factors that initiate and sustain this inflammation are not clear. We report some cases of BD-associated amyloidosis and have similar features. The patients developed nephrotic syndrome due to secondary amyloidosis, which was refractory to the immunosuppressive agents. Two patients expired and the third was lost to follow-up during the course. The BD complicated with amyloidosis is associated with high mortality despite the current aggressive therapy.

AB0456 Granulomatosis with polyangiitis in tunisia. description of 21 cases.

Background Granulomatosis with Polyangiitis or Wegener’s granulomatosis (WG) is a necrotizing vasculitis of unknown etiology that involves small and medium calibre vessels. It is associated to anti-neutrophil cytoplasm antibodies (ANCA). It most often affects the respiratory tract and the kidneys and its most important pathologic feature is the presence of necrotizing granulomas. Objectives To detail the features of 21 patients with WG diagnosed in a university department of Internal Medicine. Methods Retrospective study: between 2000 and 2012, 21 patients with WG were diagnosed in our centre. The WG diagnosis was retained according to ACR criteria (1990). Epidemiological, clinical, laboratory tests as well as pathologic studies and treatment were retrospectively analyzed. Results Twenty-one patients were diagnosed: 14 men and 7 women. Mean age at diagnosis: 45.5 years (16–70). Mean delay to diagnosis: 28 months. Fourteen patients had general symptoms (66%), 18 ear-nose-throat symptoms (85.7%), 16 pulmonary involvement (76%), 12 renal involvement (57%), 2 ureteral stenosis (9.5%), 11 neurological involvement (52.4%), 4 arthromyalgia (19%), 12 mucocutaneous manifestations (57%), 9 ocular involvement (43%), 5 cardiac involvement (24%), 4 vascular involvement (19%), 2 gastrointestinal involvement (9.5%). In one case, we report an association to a retroperitoneal fibrosis. ANCA were positive in 16 cases (76%), all had a cytoplasmic c-ANCA pattern. Anti-protease-3 specificity was detected in 5 cases and anti-myeloperoxydase in 3 cases. All patients received intravenous glucocorticoids and cyclophosphamide as induction therapy. During the disease progression 3 patients died, 9 patients progressed to chronic renal failure and hemodialysis. The remaining patients presented several relapses. Conclusions The clinical features of this series do not differ from those described by other authors, except the younger age at diagnosis. Frequently used drugs were glucocorticoids and cyclophosphamide. The course was usually unfavourable, with outbreaks or complications due to immunosuppression, except for those with limited forms. Immunosuppressive therapy should be maintained indefinitely in most cases. Disclosure of Interest None Declared

Chorée révélant une polyglobulie primitive

Neurological manifestations in polycytemia vera are common. However, chorea is an exceptionally revealing feature of this disease. We report a 78-year-old man who presented with headache and an abnormal movement disorder corresponding to chorea. Laboratory findings showed increased levels of hemoglobin at 20 g/dl and hematocrit at 62.3%. An elevated erythrocyte mass to twice the normal value demonstrated the absolute erythrocytosis. A JAK2 V617F gene mutation was identified. A diagnosis of polycytemia vera-associated chorea was obtained. Clinical and biological outcomes were favorable after therapeutic phlebotomy and treatment with hydroxyurea. We recommend a complete blood cell count in elderly patient presenting with chorea to eliminate a diagnosis of polycytemia vera.

Syndrome de Barraquer-Simons au cours d’un lupus érythémateux systémique

Barraquer-Simons syndrome is a rare disorder characterized by a partial lipodystrophy. It is often associated with positive C3 nephritic factor and various glomerular nephropathy. Its association with some autoimmune diseases has also been reported. We report a 30-year-old woman with partial lipodystrophy, lupus erythematosus, hypothyroidism and vitiligo.

PS6:121 Juvenile and adult-onset systemic lupus erythematosus: a comparative study in a cohort of tunisian patients

Background Systemic lupus erythematosus (SLE) occurs in 10% to 20% of cases before the age of 18. The aim of this study was to describe clinical, biological and immunological features of juvenile-onset SLE and to compare them to adult-onset SLE. Patients and methods It is a retrospective study including 246 patients with SLE (ACR criteria). Patients were divided in two groups: juvenile-onset SLE (onset age <18 years) and adult-onset (age was between 18 and 50 years). Data were analysed and compared. P value was considered significant if <0.05. Results Juvenile-onset SLE (jSLE) was diagnosed in 23 women and two men. Adult-onset disease (aSLE) was seen in 167 women and 12 men (no difference in sex-ratio). Mean age at disease onset was 14.35±2.85 years in jSLE group and mean age at diagnosis was 16.25±4.38 years. Mean delay from SLE onset to diagnosis was 18 months in jSLE (similar to aSLE). At disease onset, malar rash (88% vs 65.7%; p=0.025) and Raynaud’s phenomena (57.1% vs 34.3%; p=0.044) were significantly more frequent in young patients whereas lupus nephritis (36% vs 36.4%) and neurological involvements (12.5% vs 12.9%) were as frequent as in jSLE than in aSLE. During follow up of patients with jSLE, frequencies of clinical manifestations were as follow: cutaneous manifestations (92%), lupus nephritis (56%), pericarditis (39%) and neurological involvements (25%) and had no statistical differences from aSLE. Anaemia was noted in 82.6%, leucopenia in 52.2% of jSLE patients without statistical differences whereas thrombocytopenia was significantly more frequent (39.1% vs 20.6%; p=0.046). Antinuclear antibodies, anti-DNA and anti-ENA were positive in 100%, 81% and 86.7% of jSLE respectively (no differences with aSLE). Anti-Sm antibodies were significantly more frequent in jSLE (92.3% vs 62%; p=0.033). Infections were diagnosed in 25% of jSLE (vs 25.9%). Corticosteroids and immunosuppressive therapy prescription was comparable in both groups. Mortality rate was higher in jSLE (23.8% vs 9.4%.p=0.065). Conclusion Mortality rate was higher in young SLE patients although severe manifestations and infections weren’t more frequent in this group

PS6:122 Late-onset systemic lupus erythematosus: characteristics and comparison with adult-onset disease

Background Systemic lupus erythematosus (SLE) is uncommon after the age of 50. The aim of this study was to determine clinical, biological and immunological characteristics of late-onset SLE. Patients and methods We retrospectively analysed 246 files of SLE patients (ACR criteria). Two groups were defined according to age: late-onset SLE (age over 50 years) and adult-onset (between 18 and 50 years). Characteristics of SLE were compared in the two groups. P value was considered significant if <0.05. Results Thirty four patients with late-onset SLE were studied; 29 women and five men. Adult-onset group included 173 women and 12 men (no difference in sex-ratio between the 2 groups). In late-onset SLE, mean age at disease onset was 56.9±6.4 years) and mean age at SLE diagnosis was 58±6.7 years. Mean delay from SLE onset to diagnosis was 18.64 months in late-onset group (similar to adult-onset SLE). At time of SLE diagnosis, malar rash (25.8% vs 65.6%; p<0.0001) and Raynaud’s phenomenon (13% vs 35.5%; p=0.033) were significantly less frequent in late-onset group. Renal failure was more frequent in old patients (33.3% vs 10.5%, p=0.005) without difference in lupus nephritis frequencies. During follow up, cutaneous manifestations (36.4 vs 82%; p<0.0001), lupus nephritis (25% vs 45.6%; p=0.03) were significantly less frequent in late-onset SLE. Arthralgia was seen in 84.8% of patients (less frequent than adult-onset group without significant difference). Central neurologic involvements (18.2%), pericarditis (48.4%) and pleural effusion (33.3%) were more frequent in late-onset SLE without significant differences. In late-onset SLE, anaemia was found in 67.5%, leucopenia in 40.6% and thrombocytopenia in 26.5% of patients (no differencies with adult-onset group). Antinuclear antibodies were positive in all patients with late-onset disease and anti-DNA antibodies were positive in 69% of patients (similar to other group). Anti-ENA antibodies were significantly less frequent in late-onset SLE (66.7% vs 87.5%, p=0.017). Mortality rates was higher in older patients without statistical difference (20.9% vs 9%; p=0.14). Conclusion Late onset SLE patients had less cutaneous manifestations and lupus nephritis but had higher rates of renal insufficiency and mortality; these can be related to co-morbidities.