Outcome and prognosis of isolated carotid vasculitis.

OBJECTIVE: To assess the prognosis and outcome of patients with isolated carotid vasculitis. METHODS: We performed a retrospective multicenter study of 36 patients (median age at diagnosis was 37 [IQR 27-45] years and 11 [31 %] patients were men) with initial presentation as isolated carotid vasculitis. Study endpoints included vascular complications, relapses, and progression to large vessel vasculitis (i.e. Giant cell arteritis or Takayasu). RESULTS: The most frequent involvement was the left internal carotid artery (39 %), and 81 % had stenosis. After a median follow-up of 32 months [IQR 12-96], 21 (58 %) patients had a vascular event, including 31 % of new onset vascular lesions and 25 % of stroke/transient ischemic attack. Patients with stroke had less carotidynia at diagnosis (33 % vs 74 %, p = 0.046), higher significant carotid stenosis (i.e. > 50 %) (89 % vs. 30 %, p = 0.026) and higher severe carotid stenosis (i.e. >70 %) (67 % vs 19 %, p = 0.012), compared to those without stroke. Twenty (52 %) patients experienced relapses. High CRP at diagnosis was associated with relapses (p = 0.022). At the end of follow-up, 21 (58 %) patients were classified as having Takayasu arteritis, 13 (36 %) as isolated carotid vasculitis, and two (6 %) as giant cell arteritis. CONCLUSION: Carotid vasculitis may occur as a topographically limited lesion and is associated with significant rate of vascular complications.

Soluble CD163 is a biomarker for accelerated atherosclerosis in systemic lupus erythematosus patients at apparent low risk for cardiovascular disease.

Objective: This study aimed to determine whether sCD163, a soluble macrophage marker up-regulated in numerous inflammatory disorders, is predictive of accelerated atherosclerosis associated with systemic lupus erythematosus (SLE).Methods: Carotid ultrasound was prospectively performed, at baseline and during follow-up, in 63 consecutive SLE patients asymptomatic for cardiovascular disease (CVD) and 18 volunteer health workers. Serum sCD163 level was determined at baseline using enzyme-linked immunosorbent assay. The primary outcome was the presence of a carotid plaque. Factors associated with carotid plaques were identified through multivariate analysis.Results: Despite a low risk for cardiovascular events according to Framingham score in both groups (2.1 ± 3.8% in SLE vs 2.1 ± 2.9% in controls; p = 0.416), ultrasound at baseline showed a carotid plaque in 23 SLE patients (36.5%) and two controls (11.1%) (p = 0.039). Multivariate analysis showed that SLE status increased the risk for carotid plaque by a factor of 9 (p = 0.017). In SLE patients, sCD163 level was high (483.7 ± 260.8 ng/mL vs 282.1 ± 97.5 ng/mL in controls; p < 0.001) and independently associated with carotid plaques, as assessed by stratification based on sCD163 quartile values (p = 0.009), receiver operating characteristics (p = 0.001), and multivariate analysis (p = 0.015). sCD163 at baseline was associated with the onset of carotid plaque during follow-up (3 ± 1.4 years) in SLE patients who had no carotid plaque at the first evaluation (p = 0.041).Conclusion: sCD163 is associated with progressing carotid plaque in SLE and may be a useful biomarker for accelerated atherosclerosis in SLE patients at apparent low risk for CVD.

Quality of life in systemic lupus erythematosus: description in a cohort of French patients and association with blood hydroxychloroquine levels.

OBJECTIVES: Benefits of hydroxychloroquine (HCQ) use on physician reported outcomes are well documented in systemic lupus erythematosus (SLE). We assess for the first time the association and predictive value of blood HCQ levels towards health-related quality of life (HRQOL) in SLE. METHODS: Data from the PLUS study (a randomized, double-blind, placebo-controlled, multicentre study) were utilized. Blood HCQ levels were quantified by high-performance liquid chromatography along with HRQOL assessments (Medical Outcomes Study-SF-36) at baseline (V1) and month 7 (V2). RESULTS: 166 SLE patients' data were analysed. Mean (SD) age and disease duration were 44.4 (10.7) and 9.3 (6.8) years. Eighty-seven per cent were women. Mean (SD, median, IQR) HCQ concentrations in the blood at V1 were 660 (314, 615, 424) ng/ml and increased to 1020 (632, 906, 781) ng/ml at V2 (mean difference 366 units, 95% confidence interval -472 to -260, p < 0.001). No significant correlations between HCQ concentrations with HRQOL domains at V1 or V2 were noted. There were no differences in HRQOL stratified by HCQ concentrations. HCQ concentrations at V1 or changes in HCQ concentration (V2-V1) were not predictive of HRQOL at V2 or changes in HRQOL (V2-V1). CONCLUSIONS: No association of HCQ concentrations with current or longitudinal HRQOL were found in SLE.

Efficacy of anti-TNF alpha in severe and/or refractory Behçet's disease: Multicenter study of 124 patients.

OBJECTIVE: To report the efficacy and safety of anti-TNF agents in patients with severe and/or refractory manifestations of Behçet's disease (BD). METHODS: We performed a multicenter study of main characteristics and outcomes of anti-TNF alpha treatments [mainly infliximab (62%), and adalimumab (30%)] in 124 BD patients [48% of men; median age of 33.5 (28-40) years]. RESULTS: Overall response (i.e. complete and partial) rate was 90.4%. Clinical responses were observed in 96.3%, 88%, 70%, 77.8%, 92.3% and 66.7% of patients with severe and/or refractory ocular, mucocutaneous, joint, gastro-intestinal manifestations, central nervous system manifestations and cardiovascular manifestations, respectively. No significant difference was found with respect to the efficacy of anti-TNF used as monotherapy or in association with an immunosuppressive agent. The incidence of BD flares/patient/year was significantly lower during anti-TNF treatment (0.2 ± 0.5 vs 1.7 ± 2.4 before the use of anti-TNF, p < 0.0001). The prednisone dose was significantly reduced at 6 and 12 months (p < 0.0001). In multivariate analysis, retinal vasculitis was negatively associated with complete response to anti-TNF (OR = 0.33 [0.12-0.89]; p = 0.03). The efficacy and relapse free survival were similar regardless of the type of anti-TNF agent used. After a median follow-up of 21 [7-36] months, side effects were reported in 28% of patients, including infections (16.3%) and hypersensitivity reactions (4.1%). Serious adverse events were reported in 13% of cases. CONCLUSION: Anti-TNF alpha therapy is efficient in all severe and refractory BD manifestations. Efficacy appears to be similar regardless of the anti-TNF agent used (infliximab or adalimumab).

[Update on Susac syndrome]. / Actualités dans le syndrome de Susac.

Susac syndrome is a rare disease affecting mainly young women, characterized by a microangiopathy limited to the cerebral, retinal, and cochlear vessels. Although the pathophysiology of Susac syndrome is not yet fully elucidated, recent advances favour a primitive vasculitis affecting the cerebral, retinal and cochlear small vessels. Susac syndrome must be recognized in the presence of the pathognomonic clinical triad associating: 1/subacute encephalopathy with unusual headache and pseudopsychiatric features associated with diffuse white matter, grey matter nuclei and specifically corpus callosum lesions on brain MRI; 2/eye involvement that may be pauci-symptomatic, with occlusions of the branches of the central artery of the retina at fundoscopy and arterial wall hyperfluorescence on fluorescein angiography; and 3/cochleo-vestibular damage with hearing loss predominating at low frequencies on the audiogram. Relapses are frequent during an active period lasting approximately 2 years. Eventually, the disease resolves but isolated retinal arterial wall hyperfluorescence without new occlusions may recur, which should not lead to treatment intensification. First-line treatment consists of a combination of anti-aggregants and high dose corticosteroids. In refractory patients or in case of relapse, immunomodulatory molecules such as intravenous immunoglobulins or immunosuppressive drugs such as mycophenolate mofetil, cyclophosphamide or rituximab should be started. Unfortunately, sequelae-mostly hearing loss- remain frequent in these young patients.

Lambert-Eaton myasthenic syndrome and follicular thymic hyperplasia in systemic lupus erythematosus.

Fatigue is a prominent feature of systemic lupus erythematosus (SLE), usually ascribed to various factors, such as muscle or joint involvement, anaemia or depression. The Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoantibody-mediated disorder of neuro-muscular transmission. We report on a well-defined LEMS associated with thymus hyperplasia in a SLE patient. An African 41 years-old SLE patient presented with persisting fatigue, myalgia and dyspnea, abolished reflexes and a bilateral ptosis. Neuromuscular electrodiagnostic study showed a clear-cut potentiation that was typical of a pre-synaptic neuromuscular junction disease. Anti-calcium gated channels antibodies were disclosed in serum and a diagnosis of LEMS was made. A total body CT-scan revealed an antero-superior mediastinal mass, compatible with thymoma. The tumour was surgically removed with a final diagnosis of follicular thymic hyperplasia. In conclusion, our observation provides a new example of entangled organ-specific and systemic autoimmunity in the context of thymus pathology. Potentiation study during electromyography should be performed systematically to rule out LEMS in patients with SLE and muscle weakness.

Are script concordance tests suitable for the assessment of undergraduate students? A multicenter comparative study.

INTRODUCTION: Script concordance tests (SCTs) have been developed to assess clinical reasoning in uncertain situations. Their reliability for the evaluation of undergraduate medical students has not been evaluated. METHODS: Twenty internal medicine SCT cases were implemented in undergraduate students of two programs. The results obtained on the SCTs were compared to those obtained by the same students on clinical-based classical multiple-choice questions (MCQs). RESULTS: A total of 551/883 students (62%) answered the SCTs. The mean aggregate score (based on a total 20 points) was 11.54 (3.29). The success rate and mean score for each question did not differ depending on the modal response but the discrimination rate did. The results obtained by the students on the SCT test correlated with their scores on the MCQ tests. Among students, 446/517 (86%) considered the SCTs to be more difficult than classical MCQs, although the mean score did not differ between the SCT and MCQ tests. CONCLUSION: The use of SCTs is a feasible option for the evaluation of undergraduate students. The SCT scores correlated with those obtained on classical MCQ tests.

Lytic bone lesions in lupus-associated myelofibrosis.

Myelofibrosis is associated with numerous causes other than hematologic malignant neoplasms, including autoimmune diseases. We describe a 44-year-old woman who suffered bone lytic lesions with extramedullary haematopoiesis in the setting of myelofibrosis associated with systemic lupus erythematosus.

Bone and joint involvement in Fabry disease.

Fabry disease (FD) is an X-linked lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data is limited regarding skeletal involvement in this rare disorder. We describe four family-related patients, three men and one premenopausal female, sharing a classic phenotype of FD. Dual-energy X-ray was performed in all cases and osteoporosis or osteopenia were found in all patients and osteoporotic fractures in one. One patient also showed both neuropathic joint disease and osteonecrosis. Several mechanisms that may explain osteoporosis and osteoarthropathy in the setting of FD are emphasized.

[Haemothorax revealing thoracic endometriosis]. / Hémothorax spontané révélant une endométriose pleurale.

INTRODUCTION: Thoracic endometriosis (TE) is a rare disorder affecting women during their reproductive years. Manifestations of TE include pneumothorax and haemothorax. Treatment is based on surgical and hormonal therapy that aims at eradicating existing endometrial thoracic plaques and to prevent reseeding from pelvic endometriosis. CASE REPORT: We report the case of a 36 year-old young woman presenting thoracic endometriosis revealed by a recurring spontaneous, large and isolated right haemothorax. Diagnosis, pathogeny and treatment are discussed. CONCLUSION: Thoracic endometriosis needs to be considered as a cause of haemothorax in women of childbearing age.

[Post-acute and rehabilitation care in young patients with multiple comorbidities: An observational study]. / Soins de suite et réadaptation (SSR) de Médecine Interne pour sujets jeunes polypathologiques : étude observationnelle d'une structure pilote.

INTRODUCTION: A unique structure devoted to post-acute and rehabilitation care for patients under 75 with multiple comorbidities has been created within the Department of Internal Medicine, Bichat Hospital, Paris. We aim to report on demographic factors, clinical characteristics and outcomes of patients hospitalized in this pilot structure. METHODS: All consecutive adult patients admitted between May 2017 and May 2018 were retrospectively reviewed. RESULTS: Analysis was performed on 61 (61 [24-75] years-old) admitted patients. The median length of hospital stays was 108 [13-974] days. At admission, the median Charlson comorbidity index was 6 [0-12] predicting a 10-year survival of 21 [0-99]%. Most patients were unemployed (83.6%) and had very low-income (< national minimum wage in 65.6% of cases). At hospital discharge, most patients (85.4%) were able to return home. The complete resolution of health problems occurred in most cases (65.6%) and was associated with a lower probability of both hospital readmission and death 1-year after discharge. CONCLUSION: The structure served a high percentage of patients with major and complex health needs but limited access to care due to individual disabilities, low-income and underinsured status. However, despite major health disorders, functional limitations, and vulnerability, admission improved patient outcomes and reduced excess hospital readmissions in most cases.

[Association between psychiatric comorbidities and hospital length of stay in post-emergency internal medicine patients]. / Association des comorbidités psychiatriques avec la durée de séjour des patients en médecine interne d'aval des urgences.

INTRODUCTION: Patients with psychiatric disorders suffer from a higher rate of somatic disorders than those without psychiatric disorder, often inappropriately managed. Our study aimed to describe patients with psychiatric comorbidity in post-emergency internal medicine units and to compare their length of hospital stay to patients without psychiatric disease. METHODS: This French cross sectional study used the data warehouse of the greater Paris hospitals. It included, all patients hospitalized through the emergency department in 9 internal medicine departments during the year 2017. Psychiatric disorders and the burden of somatic disorders (Charlson score) were determined through diagnostic coding. Charlson score and hospital length of stay were compared between patients with and without psychiatric comorbidity. RESULTS: In total, 8981 hospital stays (8001 patients) were included, 1867 (21%) with psychiatric comorbidity. After adjusting for age, gender, hospital and main diagnosis, the Charlson score was on average 0.68 higher in the psychiatric comorbidity group (P<0.001) and the length of hospital stay was 30% higher after further adjustment on the Charlson score (P<0.001). These differences were consistent for each main diagnosis. CONCLUSION: Patients with psychiatric comorbidity are frequent in post-emergency internal medicine wards. They experience longer hospital stays, only partly related with a higher burden of somatic disorders. Special attention should be paid to this vulnerable population.

Aseptic meningitis and ischaemic stroke in Fabry disease.

BACKGROUND: Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabry patients. METHODS: Clinical analysis, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analysed in three cases of meningitis associated with Fabry disease. FINDINGS: Mean age at meningitis onset was 26.6 (24-28) years. Headache was present in all cases and fever in two cases. Meningitis was always diagnosed before Fabry disease. A familial history of Fabry disease was present in two cases. Non-neurological symptoms caused by Fabry disease were present in all cases. All patients also suffered stroke and sensorineural hearing loss. Cerebrospinal fluid (CSF) analysis showed pleocytosis (mean, 36; range: 8-76 cells/mm(3)) and a high protein level (mean, 63; range, 47-70 mg/dl). C-reactive protein blood levels and erythrocyte sedimentation rate were raised. Diagnosis was assessed by low alpha-galactosidase A dosage and/or gene mutation analysis in all cases. All patients were treated with enzyme replacement therapy (ERT). In two cases, lumbar puncture was repeatedly performed and there was no normalisation of CSF under ERT alone, at 9 and 24 months of follow-up, respectively. One patient who suffered intracranial hypertension was treated efficiently with steroids, associated with azathioprine. The fact that Fabry disease could be an auto-inflammatory disorder is discussed. INTERPRETATION: Fabry disease may cause aseptic meningitis.

[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]. / Efficacité clinique de l'enzymothérapie dans la maladie de Fabry. Analyse critique.

Fabry disease is a X-linked lysosomal storage disorder. Two preparations of the enzyme alpha-galactosidase A are available in Europe since 2001: agalsidase alpha and agalsidase beta. Clinical evidence of efficacy are mandatory considering the absence of a robust biomarker. A literature review was performed to assess the clinical efficacy of these two enzyme replacement therapies. Only open or randomised controlled trials were considered. No unflawed direct comparison exists between the two drugs. Significant clinical benefits have been demonstrated with enzyme replacement therapy (ERT), mainly at an early phase of the disease, with positive effects on heart, kidneys, pain, and quality of life. Further prospective studies are required to confirm the long term clinical benefits of ERT. More specific studies are also needed in women or with ERT earlier in the course of Fabry disease to assess prevention of organ damage.

[Cystathionine betasynthase and MTHFR deficiencies in adults]. / Déficit en cystathionine bêta-synthase et déficit en MTHFR chez l'adulte.

INTRODUCTION: Homocysteine lies at an important metabolic branch point; it may be either converted to cystathionine through the transsulfuration pathway, or methylated to form methionine. Hyperhomocysteinemia may result from hereditary defects affecting one of these reactions. STATE OF ART: Cystathionine beta synthase or 5,10-methylenetetrahydrofolate deficiency can both result in homocystinuria. Current knowledge about biochemical mechanisms leading to hyperhomocysteinemia, clinical and radiological features, pathogenesis and treatment are reviewed, focusing on late onset forms of these diseases which can be diagnosed in adulthood. CBS deficiency is characterized by lens dislocation, skeletal abnormalities, neurologic disturbances and thromboembolism. MTHFR deficiency leads to various neurological symptoms, ranging from developmental delay to encephalopathy, including motor and gait abnormalities, seizures, psychiatric manifestations and rarely strokes. The treatment of CBS deficiency depends on vitamin B6, whereas MTHFR deficiency can be efficiently treated by vitamin B12, folic acid, and betaine. PERSPECTIVES: Homocysteinemia should be measured in patients with unexplained neurological manifestations or thromboembolism.

[Leptospirosis: an unusual etiology of anterior uveitis]. / La leptospirose: une cause inhabituelle d'uvéite antérieure.

INTRODUCTION: Leptospirosis is an anthropozoonosis, which affect 100000 people by year worldwide. CASE REPORT: Leptospirosis and IgA deficiency were revealed in a young man by acute anterior uveitis, after canyoning practice in the French West Indies. DISCUSSION: Uveitis should be added to the ocular phenotype of leptospirosis.

[Adenosine deaminase is useful for the diagnosis of peritoneal tuberculosis in patients with end-stage renal failure]. / Le dosage d'adénosine déaminase est utile pour le diagnostic de tuberculose péritonéale chez le patient dialysé

INTRODUCTION: End-stage renal failure patients are particularly at risk for tuberculosis, especially for peritoneal tuberculosis. Microbiological diagnosis remains hazardous in many cases. CASE REPORT: We report on a case of peritoneal tuberculosis in an end-stage renal failure patient. The diagnosis was suspected on the basis of adenosine deaminase dosage in peritoneal fluid, allowing an early presumptive treatment and a favourable outcome with a 3 years follow-up. DISCUSSION: The measurement of adenosine deaminase activity in ascites represents a diagnostic advance in tuberculous peritonitis among end-stage renal failure patients.

[Could aspecific symptoms be related to Borrelia infection?]. / Certains symptômes cliniques aspécifiques ont-ils une origine borrélienne?

Chronic manifestations (knee arthritis, encephalomyelitis, axonal polyneuropathy) may occur in the late phase of Lyme disease. Contrasting with such well-defined manifestations, the "post-Lyme syndrome" includes symptoms such as fatigue, algia, malaise, cognitive disorders, after treatment of a documented Lyme disease. The analysis of clinical, neuropsychological, bacteriological, immunological, epidemiological, quality of life, and treatment data does not support the reality of such a syndrome. Moreover, no physiopathological data can relate Borrelia infection to such symptoms in patients without previously documented Lyme disease symptoms but who are seropositive (or even sometimes without serodiagnosis as for instance in the Munchausen by proxy, or Gulf war syndromes).

Subacute bacterial endocarditis presenting as polymyalgia rheumatica or giant cell arteritis.

OBJECTIVE: To report on several patients with subacute bacterial endocarditis who were initially presumed, incorrectly, to have polymyalgia rheumatica or giant cell arteritis. METHODS: We report 3 cases of subacute streptococcal endocarditis mimicking giant cell arteritis in 2 cases and polymyalgia rheumatica in one. We reviewed the literature through Medline search of French and English-language articles published between 1966 and 2005 and found 5 similar cases. RESULTS: Shoulder and/or pelvic girdle pain was associated with neck or back pain in all patients. Scalp tenderness, bilateral jaw pain, amaurosis fugax were present in 2 patients. One patient had no fever. Two patients were treated with corticosteroids with initial good clinical response in one. Appropriate antibiotic therapy resulted in the rapid disappearance of rheumatic complaints in 2 patients and achieved a definitive cure of endocarditis in all cases. CONCLUSION: Rheumatologic symptoms may hinder the correct diagnosis of infective endocarditis in patients who present with a clinical picture suggesting polymyalgia rheumatica or giant cell arteritis. In such cases, blood cultures should be systematically drawn.

[Iatrogenic central serous chorioretinopathy during glucocorticoid therapy for temporal arteritis]. / Baisse de l'acuité visuelle chez une patiente traitée par corticoïdes pour maladie de Horton : choriorétinopathie séreuse centrale iatrogène.

INTRODUCTION: Visual complications of temporal arteritis are frequent and serious. Their risk prompts glucocorticoid therapy, but this treatment may also cause ophthalmologic troubles. EXEGESIS: A sudden and isolated monocular visual blur, occurring in a 66 years old woman after 4 month of glucocorticoid treatment for temporal arteritis, revealed a case of iatrogenic central serous chorioretinopathy. The diagnosis of this disease is established by fluorescein angiography and its functional prognosis is excellent. Tapering the doses of glucocorticoids, as fast as the underlying disease allows, hastens visual recovery. CONCLUSION: When the treatment of temporal arteritis is commenced for more than a month, new visual complications are rare. Central serous chorioretinopathy induced by glucocorticoids belongs to the diagnoses that should be evoked in this case, especially if there is no clinical manifestation of arteritis and no inflammatory markers.