Bilateral choroidopathy in systemic lupus erythematosus.

We report a case of bilateral choroidopathy in a 35-year-old woman with systemic lupus erythematosus (SLE) diagnosed 3 years previously, and treated with hydroxychloroquine and steroids that ceased 6 months before ocular signs. She complained about rapid bilateral blurred vision with a severe loss of visual acuity. Fluorescein angiography found multiple leakage points in the posterior pole of the pigment epithelium. Ocular coherence tomography (OCT) and fundoscopy showed bilateral retinal detachments. Lupus choroidopathy was diagnosed and high steroids were given intravenously and allowed a rapid improvement. Visual acuity, fundoscopy, retinal angiography and OCT were normalized at 2 months. Choroidopathy is rarely reported in lupus and only about 30 patients are found in the literature.

Increased exposure to statins in patients developing chronic muscle diseases: a 2-year retrospective study.

OBJECTIVE: Case reports have suggested that lipid-lowering drugs (LLDs), especially statins, could induce or reveal chronic muscle diseases. We conducted a study to evaluate the association between chronic muscle diseases and prior exposure to LLDs. METHOD: This was a retrospective study of chronic primary muscle disease cases newly diagnosed at the Toulouse University Hospitals between January 2003 and December 2004 among patients living in the Midi-Pyrénées area, France. All patients remained symptomatic for more than 1 year after drug withdrawal, or required drugs for inflammatory myopathy. Data on the patient's exposure to LLDs and to other drugs were compared with that of matched controls (5/1) selected through the Midi-Pyrénées Health Insurance System database. RESULTS: A total of 37 patients were included in the study. Of those, 21 (56.8%) suffered from dermatomyositis (DM) or polymyositis (PM), 12 (32.4%) from genetic myopathy, and 4 (10.8%) from an unclassified disease. The prevalence of exposure to statins was 40.5% in patients and 20% in controls (odds ratio (OR) 2.73, 95% confidence interval (CI) 1.21-6.14; p<0.01). There was a significant positive interaction between statins and proton pump inhibitors exposure (weighted OR 3.3, 95% CI 1.37-7.54; p = 0.02). Statin exposure rate was 47.6% among patients with DM/PM (OR 3.86, 95% CI 1.30-11.57; p<0.01). There was no difference between patients and controls for exposure to fibrates. CONCLUSION: Patients who developed chronic muscle diseases after the age of 50, including DM/PM, had a higher than expected frequency of prior exposure to statins. Further studies are needed to confirm this association and the role of proton pump inhibitors.

[Fulminant alveolar hemorrhage: evolution of giant cell arteritis to ANCA-positive vasculitis?]. / Hémorragie intra-alvéolaire fulminante : transformation d'une maladie de Horton en vascularite ANCA-positive?

INTRODUCTION: Giant cell arteritis (GCA) is a granulomatous vasculitis of the large and medium size vessels with a remarkable sensitivity to corticosteroids, although it may be dependent to therapy. In rare cases, a vasculitis of the medium or small-size vessels may mimic, be associated to, or follow GCA. We report a case of GCA dependent to corticosteroids that was followed five years after diagnosis by an alveolar hemorrhage leading to the diagnosis of a possible Wegener's granulomatosis. EXEGESIS: A 70-year-old man had a diagnosis of GCA fulfilling the ACR criteria in 1999. Temporal artery biopsy revealed a typical histological pattern. The initial response to corticosteroids was excellent, but the patient became dependent to corticosteroids, so he was given methotrexate from 2002. Severe alveolar haemorrhage occurred in December 2004, leading to the diagnosis of possible ANCA positive, anti-proteinase 3 positive Wegener's granulomatosis. CONCLUSION: ANCA-positive vasculitis may complicate the course of GCA. This evolution should be rapidly recognized, because its treatment differs to that of GCA.

[Painful thoracic neuropathy disclosing Sjögren's syndrome: first report]. / Neuropathie thoracique douloureuse isolée: première description au cours d'une maladie de Gougerot.

INTRODUCTION: Thoracic neuropathy is rare, and is usually associated with diabetes mellitus. We report a first case of isolated multi-metameric thoracic neuropathy revealing Sjögren's disease. EXEGESIS: A 64-year old man consulted for symptoms suggesting a progressive and extensive (from T7 to T10) bilateral thoracic neuropathy. Diabetes mellitus and other causes of neuropathy were excluded. Spinal MRI, electromyography and CSF analysis were normal. Though the patient had no sicca syndrome symptoms, the diagnosis of Sjögren's syndrome was made on hypergammaglobulinemia, elevated ACAN (1/5000) with anti-SSA specificity and a grade III minor salivary gland biopsy. He improved spectacularly on corticosteroids (prednisone, 1 mg/kg/d). Sicca syndrome became clinically evident in April 2006. CONCLUSION: Pure sensitive thoracic neuropathy can reveal Sjögren's syndrome.

[Rituximab induced remission of pemphigus vulgaris: 2 cases]. / Pemphigus vulgaire évolutif sous corticoïdes et immunosuppresseurs: rémission sous rituximab. Deux observations.

INTRODUCTION: Pemphigus vulgaris frequently requires corticoids and immuno-suppressive drugs. The disease and the side effects of the drugs severely affect the quality of life, and sometime the vital prognosis of the patients. Other treatments than corticosteroids and immunosuppressive drugs are needed. EXEGESIS: We report 2 additional cases of pemphigus vulgaris uncontrolled by corticoids and immuno-suppressive drugs that responded spectacularly to rituximab. One patient had a recently onset disease, that was active despite 1,5 mg/kg/day prednisone and 1,5 g/day mycophenolate. She had a complete remission during 15 months after rituximab treatment. At relapse, another rituximab cycle led to a prompt remission. The other patient had longstanding pemphigus vulgaris complicated by cutaneous infections on prednisone (20 mg/d), immunosuppressive drugs and intravenous immune globulins. She had a prompt and complete remission after rituximab. CONCLUSION: Rituximab seems to be a promising drug for refractory pemphigus vulgaris. The benefit to risk ratio of this drug in this new indication must be precisely documented.

[Primary localized amyloidosis of the urinary tract. A case series of five patients]. / Amylose primitive localisée à l'appareil urinaire. A propos de cinq cas.

PURPOSE: To describe the clinical and radiographic features of patients with primary localized amyloidosis of the urinary tract. METHODS: We report a case of localized amyloidosis of the ureters and bladder. The medical records of four other cases from the French Register of localized amyloidosis were reviewed. RESULTS: The mean age of three men and two women was 53 years. All patients presented with gross hematuria, four patients presented with renal colic, only one patient had irritative lower urinary tract symptoms. Ureter and bladder were involved in three patients, both ureters in two patients and the bladder only, in one patient. Clinical and radiographic presentations mimicked a neoplasia excluded by histologic analysis. Immunohistochemical study was performed in only two cases and revealed lambda light chain amyloidosis. The median follow-up was eight years. Various treatments were performed, and recurrences occurred in two cases. None of the five patients developed monoclonal gammapathy or systemic amyloidosis. CONCLUSION: Primary localized amyloidosis of the urinary tract is a rare disorder and can easily be confused with a neoplasm. The physiopathology is unknown, the prognosis is usually good. There is no specific treatment, and repeated work-up for systemic amyloidosis is unnecessary as local recurrences appear to be the main complication.

[Cryofibrinogenemia: a single-center study at the University Hospital of Toulouse, France]. / Cryofibrinogénémie : étude monocentrique au CHU de Toulouse.

PURPOSE: Cryofibrinogenemia is an unknown disorder and studies dedicated to it are limited. The aim of our study was to report on the incidence, clinical manifestations and associated diseases in patients with isolated cryofibrinogenemia. METHODS: This is a retrospective single-center study. Patients included in this study had a positive and isolated detection of cryofibrinogen between January 1st, 2011 and December 31st, 2012. Identification was possible through the database of the laboratory of immunology. RESULTS: Two hundred and eighty-one consecutive orders of cryofibrinogenemia were identified. Seventy-three patients had a positive detection of cryofibrinogenemia. Among them, 12 had an isolated cryofibrinogenemia and sixty-one patients (84%) had concomitant cryofibrinogenemia and cryoglobulinemia. The mean age was 59±19years. Seven patients were female (58%). Cutaneous manifestations were present in half case. Peripheral nerve involvement was present in 5 cases (42%) and rheumatic manifestations in 4 patients (33%). A thrombotic event was reported in 7 patients (58%). Renal impairment was present in 7 patients. The median cryofibrinogen concentration was 254±304mg/L. Five patients had a secondary cryofibrinogenemia. The most often prescribed treatment was corticosteroids. CONCLUSION: Cryofibrinogenemia is an unknown disorder. Testing for cryoglobulinemia is more frequent than for cryofibrinogenemia whereas clinical manifestations are similar. Detection of cryofibrinogen is positive in most of the cases, with an important prevalence of thrombotic events in this population. This study confirms the importance of conducting prospective studies on cryofibrinogenemia.

Unusual sialilation of the serum DBP associated with the Gc 1 allele in alcoholic cirrhosis of the liver.

The serum level of the 'vitamin D binding protein' (DBP) or Gc ('group-specific component'), its phenotype distribution and the quantitative estimation of the different electrophoretic isoforms were determined in a sample of healthy individuals (blood donors) and in patients with alcoholic hepatitis. It is shown that the serum DBP levels and the amount of the different electrophoretic isoforms are influenced by the protein phenotypes. In the patients an increased frequency of the Gc 1 allele is noticed. For the first time, an unusual form of the apo DBP protein was detected but only in the sera of the Gc 1 allele carriers. The protein form investigated by analytical procedures presents one more sialic acid residue than the usual Gc 1 protein. This unusual metabolic transformation of the DBP is mostly observed among male patients and is often associated with a deteriorating clinical outcome.

Hypercapnic coma due to diaphragmatic involvement in a patient with dermatomyositis.

We report an acute respiratory distress by diaphragmatic involvement due to dermatomyositis. A fifty year-old patient with typical dermatomyositis presented an acute respiratory insufficiency with hypercapnic coma due to diaphragmatic muscle involvement. Respiratory state required mechanical ventilation initially and improved secondarily gradually upon corticosteroids and intravenous immunoglobulins. Only few cases of acute respiratory distress in dermatomyositis due to respiratory muscle involvement are reported in literature.

[Splenomegaly in sarcoidosis: clinical features and outcome. Analysis of 17 cases]. / Les splénomégalies sarcoïdosiques: caractéristiques cliniques et évolutives. A propos de 17 observations.

PURPOSE: To describe the clinical features, biological datas and outcome of patients with systemic sarcoidosis and splenomegaly. METHODS: A retrospective analysis of 17 patients presenting splenomegaly and sarcoidosis with histological proof. RESULTS: Splenomegaly was clinically perceptible in 13 patients, with a spleen size that extended 4 cm or more below the costal margin in 11 patients. It was painful in five cases. The more frequent clinical features are constitutional symptom (fever in 9 cases) and hepatomegaly (N =7). Chest X-ray showed bilateral hilar lymphadenopathy in nine patients and no abnormality in five cases. Serum angiotensin converting enzyme levels were elevated in 81% of cases. Thrombopenia (N =5) and hypersplenism (N =5) were also observed. Corticosteroid were given to 88% with a good clinical and biological response including a decrease in the spleen volume. Corticotherapy and splenectomy (performed in two patients to rule out lymphoma) didn't change outcome of disease. Sarcoidosis is often chronical (82%) and extensive. CONCLUSION: Splenomegaly may be present in sarcoidosis. Management is not standardized. Corticosteroid is indicated for symptomatic or massive splenomegaly. Splenomegaly is frequently in chronic and extensive sarcoidosis.

[Neurologic and psychiatric manifestations of primary hyperparathyroidism. Study of 5 cases]. / Manifestations neurologiques et psychiatriques de l'hyperparathyroïdie primitive. Etude de 5 cas.

Among 8 of the 20 records of primary hyperparathyroidism examined in search of neurological and/or psychiatric manifestations, the authors extracted 5 clinical cases reported here. These 5 cases were selected because these manifestations had been well evaluated before and after curative surgery of the disease. Among the manifestations reported, there was one corpus striatum syndrome, one cervical myelopathy and three cases of "chronic" psychiatric disorders of several years duration completely cured after parathyroidectomy. The authors underline that such psychiatric disorders should be taken into account in the discussion of treatment.

[Neoplastic hypercalcemia: prognostic factors of survival of patients; from 51 cases seen in internal medicine]. / Hypercalcémies néoplasiques: facteurs pronostiques pour la survie des patients; à partir de 51 cas observés en médecine interne.

In our Internal Medicine department, we conducted a retrospective study of prognostic factors in patients with malignant hypercalcaemia. The records of 51 patients who had both hypercalcaemia and a histologically proven cancer were analyzed; 42 had a solid tumour and 9 had a myeloma. In 61% of the patients cancer had been revealed by hypercalcaemia. The main warning signs were alteration of the general condition (68.6%), pain in the bones (54.9%) and polyuria with dehydration (58.8%). Osteolysis was observed in 75% of the cases. The overall median survival was 86 days. Patients with myeloma had a significantly longer survival than patients with other tumours (312 versus 60 days; p < 0.05). Patients who had received a causal treatment had a longer survival (176 versus 36 days, p < 0.001). In patients with solid tumours we found a negative correlation between survival and initial calcaemia, and a positive correlation between phosphoraemia, albuminaemia and survival. Multivariate analysis showed that the initial calcaemia level and the possibility of causal treatment were the two cardinal prognostic factors. Although the overall survival rate is mediocre, we believe that hospitalization of patients with malignant hypercalcaemia is justified for their better survival comfort and for the possibility of discovering a neoplasia that could benefit from an effective causal treatment, which is the principal factor of improved prognosis.

[Generalized edema caused by licorice: a new syndrome. Apropos of 3 cases]. / Oedèmes généralisés induits par la réglisse: un nouveau syndrome. A propos de 3 observations.

Licorice abuse is a wellknown cause of high blood pressure, myopathy, and cardiac rhythm trouble. It should be considered as a cause of diffuse acute edema, as shown in the three following case-reports.

[Oral histoplasmosis 34 years after return of Africa]. / Une histoplasmose du plancher buccal 34 ans après un retour d'Afrique.

INTRODUCTION: Histoplasmosis is a tropical fungal infection sharing many similarities with tuberculosis: the transmission by air dropplets, the usually asymptomatic primary-infection, the disseminated infection encountered among immunosuppressed patients and the granulomatous pathological lesions. In France, histoplasmosis is uncommon and may be misdiagnosed as tuberculosis. OBSERVATION: A 78 years old male patient presents with a raspberry-like lesion of the mouth causing difficulties to eat and weight loss of 14 kg. The diagnosis of tuberculosis is evoked because of the presence of a giant-cell granuloma in one of the biopsies. The histoplasmosis serology, requested because the patient stayed in Africa, is positive. Revisions of the pathology put into evidence the presence of spores in histiocytes confirming diagnosis of histoplasmosis. The treatment with itraconazole is effective. CONCLUSION: Histoplasmosis is a differential diagnosis of tuberculosis, especially in endemic regions. The histoplasmosis serology can be useful. The reference in diagnosis examinations keeps being the microscopic observation of spores and their mycological growth.

[Etiological aspects of reactive hemophagocytoses: retrospective study in 99 patients]. / Aspects étiologiques des hémophagocytoses réactionnelles: étude rétrospective chez 99 patients.

We describe the causes of reactive hemophagocytic process in a retrospective study including 99 patients. The main diagnosis were: lymphomas (18 cases), pyogenic bacteria infections (15 cases), herpes virus infections (12 cases), other infections (multiple, parasitic, fungal, mycobacterial, unidentified) (11 cases), acute hepatitis (five cases), systemic lupus erythematosus (three cases). We also found numerous other diseases involving the reticuloendothelial system. The cause remained undetermined in 16 cases. Lymphoma accounted for 64% of the cases in previously healthy patients who had been febrile for more than 10 days at the time of the diagnosis of reactive hemophagocytic process, and for 31% in HIV-positive patients. Lymphomas were rare (5%) in non HIV-positive, immunosuppressed patients. In this setting and in previously healthy patients who had been febrile for less than 10 days, infectious diseases were widely dominant (respectively 60% and 86% of the cases). Those were mainly due to pyogenic bacteria and to herpes virus. A rapidly fatal evolution occurred in some cases of lymphomas-related hemophagocytic process. These data support the choice of aggressive investigations in order to diagnose lymphoma in previously healthy patients presenting with reactive hemophagocytic process who have been febrile for more than 10 days, and in selected HIV-patients. Such a procedure is not recommended in the other cases.

[Non-complicated Horton's disease: initial treatment with methylprednisolone 500 mg/day bolus for three days followed by 20 mg/day prednisone-equivalent. Evaluation of 15 patients]. / Maladie de Horton non compliquée: traitement initial par trois bolus de 500 mg de méthylprednisolone suivis de 20 mg/j d'équivalent-prednisone. Evaluation chez 15 patients.

PURPOSE: To assess the efficacy and tolerance of three methylprednisolone boluses (500 mg/d) followed by a standard dose of prednisolone, 20 mg/d, as the initial treatment of non-complicated giant-cell arteritis. METHOD: A retrospective study of 15 cases. RESULTS: Six men and nine women with a mean age of 70.9 years were treated and followed for 41.5 months. Initial mean ESR was 83 mm; mean C-reactive protein level was 94.6 mg/L. The boluses were well tolerated, excepted in one patient who developed acute psychosis. After initiating the oral treatment, two patients presented signs of clinical relapse during the first month, and were given higher doses of corticosteroids. At 1 month, 12 patients were asymptomatic, nine of whom had normalized ESR and CRP. Mean ESR was 23; mean CRP was 13 mg/L. At 3 months, the mean prednisone dose delivered was 18.2 mg/d. Mean ESR was 12 mm. The cumulative prednisone dose given during the first year was 5,349 (+/- 2,512) mg. In the 13 patients who necessitated no more than 20 mg/d prednisone, no sequelae of giant-cell arteritis, no fractures nor major treatment intolerance occurred-during the first 2 years of treatment. Treatment was stopped in eight patients after a mean duration of 48.6 months. CONCLUSION: Treatment with pulse methylprednisolone 500 mg/d for 3 days followed by 20 mg/d oral prednisone could be a valuable corticosteroid-sparing strategy in many patients with uncomplicated temporal arteritis.

[Muscle diseases in an internal medicine department]. / Diagnostic des maladies musculaires dans un service de médecine interne.

PURPOSE: (1) To describe the causes of muscular symptoms in patients undergoing a muscle biopsy in an internal medicine department; (2) to evaluate the diagnostic value of electromyography (EMG), CPK level and muscle biopsy. METHODS: A retrospective study including 90 patients from June 1995 to March 2001. RESULTS: The diagnosis were: inflammatory diseases (n = 35), non-organic (n = 24), peripheral neuropathy (n = 8), undetermined organic diseases (n = 7), metabolic diseases (n = 5), toxic diseases (n = 4), infectious diseases (n = 4), amyloidosis (n = 3). Diagnosis value of EMG, CPK and biopsy for organicity were: sensibility: 82%, 47% and 29%; specificity: 46%, 91%, 100%; positive predictive value: 78%, 94% and 100%; negative predictive value: 50%, 40% and 36%. Muscle biopsy is always normal when CPK and EMG are normal. It allows a diagnosis in one out of three cases if EMG and CPK are differing. It is also indicated when CPK are normal and EMG is myogenic. CONCLUSION: Numerous diseases account for muscular symptoms. The low rate of diagnostic muscle biopsy imposes a comprehensive clinical approach of the patient and justify the implication of internal medicine physicians in his care. Early intervention of a psychosomatic medicine practitioner in the diagnostic procedure should be evaluated to diminish the number of non-contributory biopsies.

[Alleviation of ocular complications of the hyperviscosity syndrome in Waldenström's macroglobulinemia using plasma exchange]. / Amélioration des complications oculaires du syndrome d'hyperviscosité de la macroglobulinémie de Waldenström par les échanges plasmatiques.

Two patients presenting ocular complications of hyperviscosity syndrome in Waldenström's macroglobulinemia have been treated by plasmapheresis after inefficiency of immunosuppressive therapy. Plasma exchange seems an useful treatment as shown by clinic and angiographic improvement. In each case improvement of retinopathy was correlated with decrease of serum IgM level and blood viscosity measured by isotopic method. Fluorescein angiography, easily repeated, seems a very good method for following hyperviscosity syndrome in Waldenström's macroglobulinemia.

[Chronic relapsing polychondritis. Clinical characteristics]. / Polychondrite chronique atrophiante. Particularitiés cliniques.

Some imperfectly known clinical aspects of polychondritis chronica atrophicans (relapsing polychondritis), as extracted from a series of 12 cases, are presented. The osteoarticular lesions are sometimes unusual, involving the temporomandibular or cervical articulations, and the renal lesions may be severe. Pericarditis seems to be more frequent than usually mentioned in the literature. Pulmonary complications are not always those which are classically associated with lesions of the tracheo-bronchial cartilages. Haematological manifestations are not uncommon and must be taken into account when evaluating the prognosis of the disease.