Impairment of quality of life in patients with antiphospholipid syndrome.

OBJECTIVES: Health-related quality of life (HRQoL) has not been fully explored in antiphospholipid syndrome (APS); therefore, we compared HRQoL between APS patients and the general population and assessed the impact of thromboembolic history. METHODS: HRQoL was measured in a multicentre cohort study by the Medical Outcomes Study Short-Form 36 (MOS-SF-36) questionnaire. HRQoL scores were compared to the French general population norms. Factors significantly associated with an impaired HRQoL were identified. RESULTS: A total of 115 patients with aPL and/or systemic lupus erythematosus (SLE) were included (mean age 42.7 ± 14.1 years old, 86 women). In 53 patients APS was diagnosed. Compared to general population norms, patients with APS had an impaired HRQoL. SLE-associated APS patients had the worst HRQoL scores (physical component summary (PCS)=40.8 ± 10.6; mental component summary (MCS)=40.6 ± 16.5) in comparison with SLE or aPL patients without thromboembolic history. In APS patients, history of arterial thrombosis significantly impaired HRQoL (PCS score: 42.2 ± 9.4 vs 49.2 ± 8.5; MCS score: 33.9 ± 13.7 vs 44.6 ± 10.3). CONCLUSION: Compared to the general population, APS patients experienced a lower HRQoL. In these patients, a history of arterial thrombosis significantly impaired HRQoL. Therefore, measurements of HRQoL should be included in APS patient management to assess the burden of the disease from a patient's perspective and to provide patients with the support they need.

Measurement of interatrial dyssynchrony using tissue Doppler imaging predicts functional capacity and cardiac involvement in systemic sclerosis.

OBJECTIVES: We aimed to assess the prevalence of interatrial electromechanical dyssynchrony in systemic sclerosis (SSc) patients, and to study the correlation between interatrial delay and standard follow-up parameters. METHODS: Forty consecutive patients with SSc were studied. Classical echocardiographic measurements were obtained, including indices of left ventricular (LV) systolic and diastolic function, right ventricular function, and pulmonary artery pressure (PAP). Left atrial (LA) function was studied using volume measurements. The interatrial mechanical (IAMD) delay was obtained by measuring the time delay between the peak atrial velocities at the lateral tricuspid and mitral annuli using tissue Doppler imaging. A cut-off value of 35 ms was chosen to define the presence of a significant interatrial delay. The IAMD was compared to NYHA class, six-minute walking test (6MWT), NT proBNP levels, and the carbon monoxide diffusion capacity over alveolar volume ratio (DLCO/VA), as well as to classical echocardiographic parameters. RESULTS: Forty percent of patients were found to have significant interatrial dyssynchrony with an IAMD of 35 ms or more. Patients with interatrial dyssynchrony were more symptomatic, had a shorter 6MWT, higher NT proBNP levels, and a lower DLCO/VA compared with those without dyssynchrony. Regarding conventional echocardiographic parameters, increased IAMD was associated with more pronounced LV diastolic dysfunction, LA enlargement and dysfunction, altered RV function, and higher PAP. CONCLUSIONS: IAMD correlated with all of the standard follow-up parameters in SSc, and is probably a sensitive marker of LA involvement. This easy to measure parameter should be added to the routine echocardiographic assessment of these patients.

Severe cardiomyopathy revealing antineutrophil cytoplasmic antibodies-negative eosinophilic granulomatosis with polyangiitis.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare form of systemic vasculitis in which cardiac involvement is frequent and severe, and accounts for half of EGPA-related deaths. ANCA-positive EGPA differs from ANCA-negative EGPA in that the former is significantly associated with renal involvement, peripheral neuropathy and biopsy proven vasculitis, whereas the latter is associated with cardiac involvement. Herein, we report a case of EGPA with myocarditis in a woman, who was successfully treated with steroids and cyclophosphamide. This report highlights the importance of diagnosing cardiac involvement in EGPA early, especially in ANCA-negative patients.

Haemolytic-uraemic syndrome during severe lupus nephritis: efficacy of plasma exchange.

Systemic lupus erythematosus (SLE) has been described as a cause of thrombotic microangiopathy, especially thrombotic thrombocytopenic purpura (TTP). Haemolytic-uraemic syndrome (HUS) is less frequent in SLE. We report a case of such an association during an episode of severe lupus nephritis in a young woman, who was successfully treated with steroids, cyclophosphamide and especially plasma exchange with plasma replacement. This report highlights the importance of recognising atypical HUS in SLE patients by looking for schistocytes in case of haemolytic anemia with a negative antiglobulin test, in order to begin plasma exchange.

Scalp vein thrombosis mimicking giant cell arteritis relapse.

Scalp vein thrombosis is an unusual complication during giant cell arteritis. Revealed by headache, it can be misdiagnosed as a disease relapse. An ultrasound scan should rapidly be performed to make the diagnosis, avoiding inappropriate treatment escalation.

[Excessive sweating related to hydromorphone]. / Sueurs profuses invalidantes sous hydromorphone.

Diffuse and abundant sweating in a middle age patient evolving for several weeks should raise suspicion of malignant lymphoma and infectious or neuroendocrine disorders before considering a drug origin. We report a patient who presented with severe and invalidating excessive sweating related to hydromorphone therapy for vertebral pain. Amongst their many reported side-effects, excessive sweating disappearing with discontinuation of the drug have been reported with some opiates.

[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists]. / Parcours diagnostique des patients atteints de maladie de Gaucher de type 1 : enquête auprès de médecins internistes et hématologues.

INTRODUCTION: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. METHODS: A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011. RESULTS: Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician. CONCLUSION: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.

Increase of CD4+ CD25+ regulatory T cells in the peripheral blood of patients with metastatic carcinoma: a Phase I clinical trial using cyclophosphamide and immunotherapy to eliminate CD4+ CD25+ T lymphocytes.

We determined the number and functional status of CD4+ CD25(high) regulatory T cells (Treg) in blood samples from patients with metastatic carcinoma, and evaluated their sensitivity to a single intravenous infusion of cyclophosphamide. Treg numbers were significantly higher in 49 patients with metastatic cancer (9.2% of CD4+ T cells) compared to 24 healthy donors (7.1%). These cells expressed the transcription factor forkhead box P3 (FoxP3), glucocorticoid-induced tumour necrosis factor receptor family-related protein (GITR) and intracellular CD152, and demonstrated a suppressive activity in vitro against CD4+ CD25- autologous proliferation. At a single intravenous infusion, cyclophosphamide failed, in association with a non-specific immunotherapy by intratumoral bacille Calmette-Guérin (BCG), to modulate significantly Treg numbers or function. Metastatic cancer is associated with an expansion of peripheral blood CD4+ CD25(high) FoxP3+ GITR+ CD152+ Treg cells whose immunosuppressive properties do not differ from those of healthy subjects. Moreover, cyclophosphamide administration may not represent an optimal therapy to eliminate Treg, which further underlines the need to identify specific agents that would selectively deplete these cells.

[Case-control study evaluating the incidence of hyperhomocysteinemia in cancer patients in an internal medicine department]. / Etude cas témoin évaluant l'incidence de l'hyperhomocystéinémie chez des patients porteurs de néoplasie dans un service de médecine interne.

PURPOSE: Cancer is a cause of venous thromboembolism. However, the physiopathology remains unknown. Hyperhomocysteinemia could be a promoting factor. METHOD: We built a case-control study of 65 patients followed for 2 years to compare levels of homocystéinémie in cancer bearing patients with that in matched cancer free control patients. RESULTS: Fifty per cent of cancer bearing patients had significantly increased blood serum levels of homocystéine (P=0.006). This increase did not correlate with any deficiency in blood serum levels of folate or vitamin B12. CONCLUSION: High levels of homocystéinémie could be linked to tumor proliferation.

[Pyogenic psoas abscess: six cases and review of the literature]. / Les abcès pyogènes secondaires du psoas: à propos de six cas et revue de la littérature.

PURPOSE: Psoas abscess is a rare disease in developed countries. Its diagnosis is difficult and any delay could lead to a worsen prognosis. The aim of this study is to determine the best diagnostic and therapeutic practices. METHODS: A retrospective study of psoas abscess that occurred during six months was performed. RESULTS: Six cases of secondary psoas abscess are reported. They were associated with spondylodiscitis in three cases, arthritis and gynaecologic infection in the three remaining cases. Anatomic diagnosis was performed by tomodensitometry. Microbiologic diagnosis was obtained by blood culture or direct puncture of the abscess. Antibiotics were associated with percutaneous drainage in two cases, with simple puncture in one case, and with surgery in one case. A local improvement w observed in all cases. The oldest patients presented the worst complications which were not directly caused by the abscess. CONCLUSION: Physicians must be aware of psoas abscess because of their increasing incidence. Despite the fact that digestive pathologies are the main cause of secondary psoas abscess, bone infections, particularly spine infections, should be taken into consideration. Tomodensitometry guided puncture or percutaneous drainage are of diagnostic and therapeutic interest. Infectious samples must be taken before starting antibiotics, which have to be efficient against Gram negative bacillus, anaerobes and Staphylococcus aureus. Surgery must be quickly performed when the primary infection localisation need it, in case of voluminous abscess or when antibiotics and drainage are inefficient.

[Acute nonalcoholic nonbiliary pancreatitis. Difficulties in diagnosis and possibility of nicotine toxicity]. / Pancréatite aiguë non alcoolique non biliaire. Difficultés du diagnostic etiologique et toxicité possible de la nicotine.

INTRODUCTION: The possibility of nicotine toxicity, although rare, should be considered in cases of acute edematous pancreatitis. CASE: A 30-year-old woman was hospitalized to identify the cause of an initial episode of acute edematous pancreatitis. The observation of native anti-DNA and antiphospholipid antibodies suggested lupus pancreatitis and/or an antiphospholipid syndrome, both subsequently ruled out. The final diagnosis was nicotine poisoning induced by the combination of a nicotine patch and tobacco smoking. CONCLUSION: Although a nicotine patch has never been reported in connection with an episode of acute pancreatitis before, this case suggests that such an event might be a rare complication of an overdose of nicotine.

[Diagnosis of an increased serum level of ferritin]. / Démarche diagnostique devant une hyperferritinémie.

The discovery of a hyperferritinemia is most of the time fortuitous. The diagnostic approach aims at looking for the responsible etiology and at verifying if an iron hepatic overload is present or not. Three diagnostic steps are proposed. The clinical elements and a few straightforward biological tests are sufficient at first to identify one of the four main causes: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. None of these causes is associated with a significant iron hepatic overload. If the transferring saturation coefficient is raised (>50%) a hereditary hemochromatosis should be discussed. Secondly, less common disorders will be discussed. Among these, only the chronic hematological disorders either acquired or congenital are at risk of iron hepatic overload. Thirdly, if a doubt persists in the etiologic research, and the serum ferritin level is very high or continues to rise, it is essential to verify that there is no iron hepatic overload. For that purpose, the MRI with study of the iron overload is the main test, which will guide the therapeutic attitude. Identification of more than a single etiology occurs in more than 40% of the cases.

Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.

Mazabraud syndrome is a rare sporadic disorder, mainly characterized by bone fibrous dysplasia and intramuscular myxomas. We report here two new cases of Mazabraud syndrome. One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome. We review the 37 previously reported cases with Mazabraud syndrome and discuss the 6/37 patients with criteria of Mazabraud and McCune-Albright syndromes. Based on the clinical overlap between the two syndromes, we tested the GNAS1 gene in blood leukocytes and skin fibroblasts of Patient 1, but found no evidence of an activating mutation in the GNAS1 gene.

Retroperitoneal fibrosis and infection of an aortic graft prosthesis: diagnosis and therapeutic problems.

The occurrence of a retroperitoneal fibrosis (RPF) after an aorto-bifemoral bypass is unusual. A case of RPF as a complication of an infection of the graft prosthesis is reported. Computed tomography and magnetic resonance imaging prove useful in diagnosing graft infection: they may reveal periprosthetic gas or perigraft fluid persisting for several months after surgery. However, they may fail when they are performed too early, and repeat performance is suggested.

[Ischemic vascular complications following thrombopenia induced by heparin. Diagnostic and therapeutic problems]. / Complications vasculaires ischémiques secondaires aux thrombopénies induites par l'héparine. Problèmes diagnostiques et thérapeutiques.

The authors report 21 cases of heparin-induced thrombocytopenia with ischemic vascular complications. The clinical presentations were peripheral arterial ischemia (16 cases), hemiplegia (1 case) and deep vein thrombosis (4 cases). The vascular surgeon confronted by these complications in an emergency situation should recognise the difficulties of clinical diagnosis (atypical forms) and biological investigations (problems of tests of platelet aggregation). Arterial occlusions are usually accessible to disobliteration with a Fogarty catheter without peroperative heparinisation. Delayed diagnosis explains the seriousness of these complications; in our series of 21 patients, there were 2 deaths, 1 paraplegia, 4 amputations due to arterial problems, 4 severe post-deep vein thrombosis conditions, two of which followed trans-metatarsal amputation. The diagnosis of heparin-induced thrombocytopenia implies immediate withdrawal of heparin therapy. A relay with a low molecular weight heparin is not without risk and should only be undertaken after a negative platelet aggregation test (with the low molecular weight heparin). These tests are rarely practicable in emergency situations and a relay using oral anti-vitamin K antagonists with a rapid onset of action is probably the safest option.

[Perforation of colonic diverticulum under corticoids: a complication to be known and recognized]. / Perforation de diverticule colique sous corticoïdes: une complication à connaître et à reconnaître.

Glucocorticoids can produce acute perforation of colonic diverticula and peritoneal infection. We report two observations in which patients presented a peritoneal collection with no specific clinical signs. The diagnosis was considered after C-T scan or ultrasans. Residues of contrast liquid, after an earlier X-ray exploration, have made the diagnosis of diverticula easier. In one case, corticosteroids were started as a short cure for the treatment of a myeloma. In the other case, patient received a long term corticosteroid therapy at low dose for an asthmatic disease. The perforation was induced by an increased dosage. Diverticular perforations result from inhibition of synthesis of prostaglandins who have the beneficial property of "cytoprotection" and from the immunosuppressive action of glucocorticoids which favour the diffusion of the peritoneal infection. diffusion of the peritoneal infection.

[Multiple sclerosis associated with biological symptoms of systemic lupus erythematosus. A case with anatomical study]. / Sclérose en plaques associée à une symptomatologie biologique évocatrice d'un lupus érythémateux disséminé. Une observation avec étude anatomique.

A clinical history typical of multisclerosis began in a 20-year old man with transient, then permanent manifestations involving the optic tract and the pyramidal, extrapyramidal and cerebellar systems. The patient died at the age of 62, at the end-stage of a complex clinical situation which included paraplegia, bilateral cerebellar syndrome, optic nerve atrophy, epileptic seizures and dementia. When the patient was 54 years old, laboratory findings suggestive of systemic lupus erythematosus (SLE) were discovered, namely: antinuclear, native anti-DNA, anti-Sm antibodies, circulating anticoagulant, cryoglobulinaemia and low complement level. These abnormalities persisted up to the patient's death, 8 years later, without any non-neurological sign of SLE. Post-mortem examination showed lesions of focal demyelination characteristic of multiple sclerosis, but no evidence of cerebral or extracerebral SLE. This case raises the problem of borderlines or associations between systemic lupus erythematosus and multiple sclerosis. In our case, as in other cases of "lupoid sclerosis" reported in the literature, there was a frank and isolated elevation of serum IgM levels.

[Peliosis hepatis in dermatomyositis treated with azathioprine and corticoids]. / Péliose hépatique au cours d'une dermatomyosite traitée par azathioprine et corticoïdes.

We report a case of peliosis hepatis in a 47-year old male patient with dermatomyositis treated with azathioprine and corticosteroids. Three months after the combined treatment was initiated, the patient developed right thoracic herpes zoster, agranulocytosis and liver enlargement with signs of portal hypertension. Needle biopsy of the liver revealed peliosis. Azathioprine was withdrawn. The clinical and laboratory abnormalities disappeared progressively. The main causes of peliosis hepatis are considered. Up to now, azathioprine had been held responsible for peliosis hepatis only in renal transplant recipients.

[Cutaneous plasmacytoma: review of the literature apropos of a case]. / Plasmocytomes cutanés: revue de la littérature à propos d'une observation.

Extramedullary plasmocytomas are ubiquitous plasmocytic tumours which are principally located in bones and mucosae but rarely found on the skin. Clinically, they present as purplish-blue cutaneous nodules or, less frequently, as papular or urticarial eruptions. The diagnosis rests on histology and immunostaining. Cutaneous plasmocytomas are usually divided into two types: (1) primary plamocytomas which occur in the absence of myeloma, present as solitary or multiple skin tumours, accompanied or not by monoclonal gammopathy, and have an imperfectly known course and prognosis; (2) secondary plasmocytomas--a case of which is reported here--which appear in the course of a large tumoral mass myeloma and have a very poor prognosis.