M. Khanfir

Budd-Chiari syndrome associated with Behçet's disease.

OBJECTIVES Budd-Chiari syndrome is a rare and serious complication of Behçets disease, and is the result of occlusion of the major hepatic veins, the adjacent inferior vena cava, or both. The aim of this study was to determine the prevalence, clinical and laboratory findings, and treatment and clinical course of Budd-Chiari syndrome associated with Behçets disease. METHODS We analyzed retrospectively the charts of 220 patients fulfilling the international diagnostic criteria of Behçets disease. From them, we selected those with Budd-Chiari syndrome, and analyzed their epidemiological and clinical imaging features and outcomes. RESULTS Seven male patients, mean age 29 years and already diagnosed with Behçets disease, had Budd-Chiari syndrome. The clinical course was from subacute to chronic in all cases. Thrombosis of hepatic veins was associated with inferior vena cava thrombosis in six cases. Four patients had other venous thromboses (superior vena cava and lower limbs) and one also had pulmonary emboli. One patient was positive for anticardiolipin antibodies. All patients had anticoagulation therapy, and six had high-dose corticotherapy associated, in two cases, with monthly cyclophosphamid intravenous pulses. Clinical outcome was favourable in six cases, and one patient died of hepatic failure. CONCLUSION The prevalence of Budd-Chiari syndrome in patients with Behçets disease is 3.2%, confirming that this syndrome is not uncommon in Behçets patients. The inferior vena cava is frequently involved in combination with hepatic veins and often associated with other venous thrombosis. The prognosis may be favorable with medical interventions, including anticoagulation, treatment of the vasculitis and the use of diuretics when required.

Endothelial nitric oxide synthase gene polymorphism is associated with Behçet's disease in Tunisian population

Nitric oxide (NO) is a molecule that plays a key role in many physiologic and pathologic processes. It is produced in vivo from the aminoacid l-arginine by a family of nitric oxide synthases (NOS). Endothelial NOS (eNOS) is a constitutively expressed isoform of NOS. The eNOS gene entails several polymorphisms, of which certain were investigated in Behçets disease (BD). We sought to establish the association of eNOS gene Glu298Asp polymorphism in exon 7 with susceptibility to BD. In this study, 135 Tunisian patients with BD and 157 healthy blood donor controls from the same geographic area were genotyped by polymerase chain reaction technique for eNOS polymorphism in exon 7. Our results showed that the distribution of the Glu298Asp genotype differed between BD patients and controls but did not reach statistical significance (p = 0.06). Allele Asp298 was significantly more frequent in healthy controls than in BD patients (p = 0.037, chi(2) = 4.33, OR = 1.01, 95% CI = 1.41-1.99). A significant difference was found (p = 0.004, OR = 1.26, 95% CI = 2.13-3.62) between BD patients with skin lesions and patients without this manifestation. Our findings suggest that Glu298Asp polymorphism of eNOS gene is associated with BD susceptibility as well as skin lesions.

Neuropathie périphérique au cours de la maladie de Behçet

Resume Introduction A l’inverse de l’atteinte du systeme nerveux central, l’atteinte du systeme nerveux peripherique au cours de la maladie de Behcet a ete rarement decrite. Nous rapportons une observation de neuropathie peripherique survenant chez un patient atteint d’une maladie de Behcet. Observation Un homme âge de 47 ans, atteint d’une maladie de Behcet diagnostiquee en 1997, a recu un traitement par prednisolone et colchicine jusqu’a janvier 2001. Deux mois plus tard, il a presente des paresthesies des deux membres inferieurs d’evolution ascendante atteignant secondairement les membres superieurs, associes a une faiblesse musculaire. En janvier 2003, il s’est plaint d’une diarrhee motrice et d’une dysfonction erectile. L’electromyogramme avec mesure des vitesses de conduction nerveuse a montre une polynevrite avec atteinte neurogene peripherique sensitivomotrice. La biopsie neuromusculaire a revele une neuropathie axonale moderee. La fibroscopie œsogastroduodenale etait normale et la coloscopie avec biopsie colique n’a pas montre d’aspect en faveur d’un entero-Behcet. Le patient a ete traite par prednisone, colchicine et carbamazepine avec une diminution des paresthesies. Conclusion Cette observation est particuliere par l’association chez un sujet atteint d’une maladie de Behcet d’une polyneuropathie sensitivomotrice, d’une diarrhee d’origine dysautonomiques et d’une dysfonction erectile. La neuropathie peripherique peut etre secondaire a une vascularite des vasa nervorum ou a la prise de colchicine.

Tc1/Tc2 ratio in the inflammatory process in patients with Behçet's disease

BACKGROUND: Peripheral blood CD8+ T cells expressing interferon gamma and interleukin-4 (IL-4), and lacking CD28 molecules, were responsible for the dynamic interplay between peripheral blood and inflammatory sites. INTRODUCTION: The aim of the current study was to define in Behçets disease (BD), CD8+ T-cell subsets using CD28 and CD11b monoclonal antibodies, and the characterization of the Tc1/Tc2 ratio and perforin expression. METHODS: Flow cytometry was used for intracytoplasmic cytokines and perforin expression. Effector cells were investigated by adhesion of CD8+ T cells to human microvascular endothelial cells and by chemotaxis using beta-chemokine. RESULTS: Interferon-gamma-producing CD8+ T cells in active and remission BD patients were increased, which induce a significant increase of the Tc1:Tc2 ratio in BD. CD8(+)CD28(-)CD11b+ T cells were found to be more expanded in BD patients than in age-matched healthy controls. The expression of CD11b molecules in active BD allowed to CD8(+)CD28+/CD8(+)CD28- subsets to adhere to human microvascular endothelial cells, with more efficiency in BD. Using MIP-1alpha, we observed that the migratory process of CD28(-)CD11b(+) is more important in BD. CD28(-)CD11b+ exhibited an increased perforin expression in BD patients. CONCLUSION: Taken together these results suggest the presence of immune activation, probably in response to a profound inflammation affecting BD patients. The physiopathological significance of these results were toward autoimmune diseases and/or infectious process.

Thrombus intracardiaque au cours de la maladie de Behçet: À propos de trois cas

Resume Les thrombi intracardiaques constituent une atteinte exceptionnelle au cours de la maladie de Behcet, et a notre connaissance moins de 50 cas ont ete rapportes dans la litterature. Nous rapportons trois observations de patients presentant un thrombus intracardiaque dans une cohorte de 180 patients successifs atteints d’une maladie de Behcet selon les criteres de l’International study group for Behcets disease. Ils etaient tous de sexe masculin, la moyenne d’âge au moment du diagnostic des thrombi intracardiaques etait de 27 ans et le delai entre le debut de la maladie et la survenue des thrombi etait de 4,8 ans. Les thrombi intracardiaques se sont manifestes par une hemoptysie dans deux cas et par un tableau d’insuffisance cardiaque dans un cas. Deux patients ont eu une thrombectomie chirurgicale d’emblee avec recidive du thrombus apres la chirurgie disparaissant secondairement apres traitement par prednisone, colchicine, immunosuppresseur et antivitamine K. Le thrombus a persiste malgre le traitement medicamenteux chez le troisieme patient, celui-ci refusant la thrombectomie chirurgicale. Les thrombi intracardiaques constituent une manifestation tres rare de la maladie de Behcet qui doit etre evoquee devant toute masse intracardiaque survenant chez un sujet jeune. Leur traitement repose classiquement sur les agents immunosuppresseurs, les corticoides et les anticoagulants. En cas d’inefficacite du traitement medical ou de thrombus massif ou extensif, une thrombectomie chirurgicale peut etre proposee. Les recidives apres traitement chirurgical sont possibles et necessitent un renforcement du traitement medicamenteux. La thrombolyse peut dans certains cas constituer une alternative interessante au traitement chirurgical.Intracardiac thrombus formation is exceptional in Behçets disease (less than 50 cases had been reported). Among 180 patients with Behçets disease (according to the criteria of the international study group for Behçets disease), three were diagnosed as having intracardiac thrombus. All were male, the mean age at the time of the diagnosis of the intracardiac thrombus was 27 years and the mean disease duration was 4.8 years. The presenting symptom was hemoptysis in two patients and heart failure in the third. Surgery was the first attempted treatment in two patients but thrombus recurred and resolved after medical treatment. The third patient was given corticosteroids and anticoagulants as the first line treatment. The thrombus did not resolve and the patient declined surgery. Intracardiac thrombus formation should be considered when a young Behçets disease patient presents with an intracardiac mass. Medical treatment including corticosteroids, immunosuppressive drugs and anticoagulants should be considered as the first line treatment and surgery should be considered when there is no resolution of the thrombus or when it becomes massive and extensive. In certain cases, thrombolytic treatment becomes an interesting alternative to surgery.

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.

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.

Hoffmann syndrome : about two new cases

Hypothyroidism is exceptionnally revealed by hypertrophic myopathy, known as Hoffmann syndrome. We report two new cases of severe hypothyroidism presenting as hypertrophic myopathy, occurring in two men of 49 and 57 years-old.