2022 SPILF - Clinical Practice guidelines for the diagnosis and treatment of disco-vertebral infection in adults.

These guidelines are an update of those made in 2007 at the request of the French Society of Infectious Diseases (SPILF, Société de Pathologie Infectieuse de Langue Française). They are intended for use by all healthcare professionals caring for patients with disco-vertebral infection (DVI) on spine, whether native or instrumented. They include evidence and opinion-based recommendations for the diagnosis and management of patients with DVI. ESR, PCT and scintigraphy, antibiotic therapy without microorganism identification (except for emergency situations), therapy longer than 6 weeks if the DVI is not complicated, contraindication for spinal osteosynthesis in a septic context, and prolonged dorsal decubitus are no longer to be done in DVI management. MRI study must include exploration of the entire spine with at least 2 orthogonal planes for the affected level(s). Several disco-vertebral samples must be performed if blood cultures are negative. Short, adapted treatment and directly oral antibiotherapy or early switch from intravenous to oral antibiotherapy are recommended. Consultation of a spine specialist should be requested to evaluate spinal stability. Early lifting of patients is recommended.

[Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients]. / Transplantation combinée cœur­rein au cours de la maladie de Fabry : suivi à long terme de deux patients.

INTRODUCTION: Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation. CASE REPORTS: Two brothers who were diagnosed with Fabry disease after the age of 30 years underwent a combined heart and kidney transplantation at respectively 49 and 42 years of age because of a severe hypertrophic cardiomyopathy with end stage renal failure. They are alive respectively 4 and 9 years after the transplantation. No recurrence of the disease in the transplanted organs has been found. CONCLUSION: Combined heart and kidney transplantation in Fabry disease is an efficient therapy for the cardiomyopathy and kidney failure. Its prognosis can be good when the patients are carefully selected. However, an early diagnosis is critical in order to avoid a procedure associated with a high perioperative mortality.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]. / Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes.

INTRODUCTION: Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease with a clinical spectrum ranging from a neurovisceral infantile form (Niemann-Pick disease type A) to a chronic visceral form also encountered in adults (Niemann-Pick disease type B, NP-B). METHODS: Retrospective multicentric analysis of French adult patients with ASMD over the period 1985-March 2015. Clinical, biological, and imaging data were analyzed. RESULTS: Twenty-eight patients (19 males, 9 females) were analyzed. Diagnosis was made before the age of 10 years in 16 cases. Main symptoms at diagnosis were spleen/liver enlargement and interstitial lung disease. Biological abnormalities included: thrombocytopenia (platelet count <150 000/mm3) in 24 cases including 4 patients with platelet count <60 000/mm3, constantly low high-density lipoprotein (HDL) cholesterol, polyclonal hypergammaglobulinemia (n=6), monoclonal gammopathy of unknown significance (n=5), normal prothrombin level discordant with low factor V (n=5), elevated chitotriosidase level (n=11). The diagnosis was confirmed in all cases by deficient acid sphingomyelinase enzyme activity. SMPD1 gene sequencing was performed in 25 cases. The frequent p.R610del mutation was largely predominant, constituting 62% of the non-related alleles. During the follow-up period, three patients died before 50 years of age from cirrhosis, heart failure and lung insufficiency, respectively. CONCLUSION: ASMD in adulthood (NP-B) associates spleen/liver enlargement and interstitial lung disease. Early diagnosis and appropriate management are essential for reducing the risk of complications, improving quality of life, and avoiding inappropriate procedures such as splenectomy. To date, only symptomatic therapy is available. A phase 2/3 therapeutic trial with IV infusion of recombinant enzyme is on-going.

[Tumor-induced osteomalacia caused by a late-revealing phosphaturic mesenchymal tumor]. / Ostéomalacie secondaire à une tumeur mésenchymateuse phosphaturique de révélation tardive.

INTRODUCTION: Osteomalacia is associated with diffuse pain and multiple fractures and therefore, diagnosis and treatment of this condition are necessary. Clinicians should be aware of an uncommon mechanism of osteomalacia where hypophosphataemia is secondary to renal phosphaturia because of the production by a mesenchymal phosphaturic tumor of FGF-23. This tumor should be localized and removed to cure this tumor-induced osteomalacia. OBSERVATION: A 70-year-old female patient was admitted to explore diffuse pain caused by multiple fractures secondary to osteomalacia. Despite vitamin D supplementation, she remained profoundly hypophosphoremic with major renal phosphaturia. A tumor-induced mechanism was suspected because of high level of FGF-23. It took more than three years of investigation to spot the causal phosphaturic mesenchymal tumor despite annual repetition of indium-labelled scintigraphy and PET-scan. The resection of the tumor, located between two phalanges of the right foot, cured the patient with sustained normal rate of serum level of phosphorus after two years. CONCLUSION: Tumor-induced osteomalacia is a diagnostic challenge because the localization of the tumor may be a long process. Patients should be monitored clinically and imaging studies repeated until a diagnosis is made and the causal tumor removed.

[Acid sphingomyelinase deficiency and spleen trauma: splenectomy or not splenectomy?]. / Déficit en sphingomyélinase acide et rupture splénique : splénectomie ou traitement conservateur ?

INTRODUCTION: Acid sphingomyelinase deficiency leads to a severe infantile disease (Niemann-Pick disease type A) or an attenuated form of the disease encountered in adults (Niemann-Pick type B), including pulmonary fibrosis and splenomegaly. CASE REPORT: A 52-year-old man with Niemann-Pick disease type B was admitted with splenic rupture. Embolization of the splenic artery was initially performed. Three months later, the splenic volume had increased and functional asplenia was diagnosed. Splenic scintigraphy showed 20% of functional splenic tissue. Splenectomy was finally performed because of complete necrosis of the spleen. CONCLUSION: Despite its theoretical contra-indication in Niemann-Pick disease due to a risk of respiratory insufficiency, splenectomy must sometimes be considered.

Peg-IFNα/ribavirin/protease inhibitor combination in hepatitis C virus associated mixed cryoglobulinemia vasculitis: results at week 24.

BACKGROUND: The standard-of-care treatment of patients with hepatitis C virus (HCV)-mixed cryoglobulinemia (MC) vasculitis includes pegylated interferon α (PegIFN)-α plus ribavirin and/or rituximab. About 30-40% of patients are non-responders or relapsers to such combination. OBJECTIVE: To analyse the safety and efficacy of Peg-IFNα/ribavirin/protease inhibitor combination in HCV-MC vasculitis. PATIENTS AND METHODS: Open-label, prospective, cohort study including 23 patients with HCV-MC vasculitis. Peg-IFNα/ribavirin was associated to telaprevir (375 mg three times daily, for 12 weeks, (n=15)) or boceprevir (800 mg three times daily, for 44 weeks, (n=8)) for 48 weeks. RESULTS: The median age was 59 (52.5-66) years, with 48.8% women. Thirteen patients (56.5%) were complete clinical responders, and 10 (43.5%) were partial responders at week 24. The virological response (ie, HCV RNA negativation) was of 69.6% at week 24 (p=0.005). The cryoglobulin level decreased from 0.44 to 0.06 g/l (p=0.0006) and the C4 level increased from 0.09 to 0.15 g/l (p=0.045). Grades 3 and 4 adverse events (mainly anaemia, neutropenia and thrombocytopenia) were observed in 10 cases (43.5%). Twenty patients (87%) received erythropoietin, 9 (39.1%) had red cell transfusion, and 2 (8.7%) had granulocyte stimulating agents. Antiviral therapy discontinuation was required in 8 (34.7%) patients for virological non-response (n=5), virological relapse (n=2) and depression (n=1). CONCLUSIONS: Peg-IFNα/ribavirin/protease inhibitor combination seems highly effective in HCV-MC. Such therapeutic regimen should be administered cautiously considering the high rate of side effects.

[Black esophagus]. / Nécrose aiguë de l'œsophage.

INTRODUCTION: Acute necrosis of the esophagus, frequently referred to as black esophagus is a rare clinical entity. CASE REPORT: We here report a case of an acute necrosis of the esophagus secondary to hemodynamic compromise after total hip replacement. Past medical history of our 72-year-old patient was remarkable for coronary heart disease, obstructive arteriopathy of the lower limbs, diabetes mellitus and hypertension. He was referred for hematemesis and epigastric pain one day after the surgical intervention was performed. Gastric endoscopy showed necrosis of the esophagus. Treatment consisted on intravenous proton pump inhibitor, parenteral renutrition, and red blood cell transfusion. Fours days later, endoscopy found complete disappearance of necrosis. CONCLUSION: Black esophagus develops in debilitated patients during hypoperfusion and stress. The outcome is usually favourable in the absence of comorbidities.

[Antisynthetase syndrome and lung carcinoma: a fortuitous association?]. / Syndrome des antisynthétases et adénocarcinome pulmonaire: une association fortuite?

INTRODUCTION: Dermatomyositis and polymyositis are sometimes associated with neoplasia. Conversely, a link between antisynthetase syndrome and neoplasia has not been clearly demonstrated. CASE REPORT: We report a 54-year-old smoker male patient who presented with an antisynthetase syndrome with anti-Jo1 and anti-Ro-52 antibodies. An adenocarcinoma of the lung was diagnosed at the same time. CONCLUSION: Two recent studies showed that patients with an antisynthetase syndrome associated with anti-Jo1 antibodies have more severe prognosis than antisynthetase syndrome associated with other antibodies (i.e. PL7/PL12). The risk of cancer occurrence seems to be increased when the anti-Jo1 antisynthetase syndrome is associated with anti-Ro-52 antibodies. To date, there is no demonstrated association between antisynthetase syndrome and neoplasia.

[Rhabdomyolysis following the coprescription of atorvastatin and fusidic acid]. / Interaction atorvastatine et acide fusidique : une cause de rhabdomyolyse sévère.

INTRODUCTION: The incidence of rhabdomyolysis associated with statin therapy is underestimated, especially when they are coprescribed with other drugs. CASE REPORT: We report a 68-year-old man who presented with rhabdomyolysis causing muscle weakness that occurred seven months after fusidic acid was coprescribed with atorvastatin. A literature review identified eight additional cases of rhabdomyolysis with fusidic acid and atorvastatin and six with fusidic acid and simvastatin. The risk of rhabdomyolysis associated with statin therapy is dependent of the extent to which an individual statin is metabolized by P450 3A4 isoenzyme and to the degree of inhibition of this isoenzyme activity by some antimicrobial. CONCLUSION: Our case report highlights the importance of the close monitoring of patients on statins, especially when new drugs are started or if patients become symptomatic, with testing for occurrence of muscle weakness and creatine kinase serum level.

Continuous high-dose vancomycin combination therapy for methicillin-resistant staphylococcal prosthetic hip infection: a prospective cohort study.

Few data are available on treatment and outcome of methicillin-resistant (MR) staphylococcal prosthetic joint infections. Vancomycin remains the treatment of choice for these infections, but its efficacy and safety in bone-and-joint infections are insufficiently documented. We conducted a prospective cohort study on 60 patients treated between November 2002 and December 2008 for chronic MR staphylococcal (44 S. epidermidis, nine other coagulase-negative Staphylococcus and seven S. aureus) prosthetic hip infections (PHIs). Twenty-two patients had previously undergone surgery for their PHI and 21 had previously received antibiotics. All patients had surgery (exchange arthroplasty for 58 patients, resection arthroplasty for two) and received an antibiotic regimen combining high-dose continuous intravenous vancomycin infusion (target serum concentration 30-40 mg/L) with another antibiotic for 6 weeks, followed by an additional 6 weeks of oral intake. Two years after surgery, infection was considered cured in 41 (68%) patients and only two relapses occurred after one-stage exchange arthroplasty. Nineteen (32%) patients experienced nephrotoxicity that was generally mild (RIFLE class R for 14 patients, class I for four patients and class F for one patient) and most often reversible. Continuous high-dose intravenous vancomycin combination therapy is an effective, feasible and reasonably safe treatment of chronic MR staphylococcal PHI.

Hematological malignancy associated with polymyositis and dermatomyositis.

The aims of this present study were to: 1) assess the characteristics of hematological malignancies in polymyositis/polymyositis (PM/DM) patients; and 2) determine predictive variables of hematological malignancies in PM/DM patients. We retrospectively reviewed the medical records of 32 patients (14 PM, 18 DM) associated with hematological malignancies. In our 32 PM/DM patients, hematological malignancy was concurrently identified (18.8%) or occurred during the course of PM/DM (31.2%); although, PM/DM more often preceded hematological malignancy onset (50%). We observed that the types of hematological malignancies varied, consisting of: B-cell lymphoma (n=20), T-cell lymphoma (n=4), Hodgkin's disease (n=2), multiple myeloma (n=1), myelodysplastic syndrome without excess of blasts (n=3), hairy cell (n=1) and acute lymphocytic leukemia (n=1). In 21 patients of our 32 patients with PM/DM-associated hematological malignancy (65.6% of cases), PM/DM paralleled the course of hematological malignancy. Finally, we observed that patients with PM/DM-associated hematological malignancies had a poor prognosis, the survival status ranging from 96.9%, 78.1% and 51.4% at 1, 3 and 5years, respectively. Interestingly, we found that patients with hematological malignancies, compared with those without were older and more frequently had DM; on the other hand, these patients less commonly exhibited: joint involvement (p=0.017), interstitial lung disease (p=0.06) and anti-Jo1 antibody (p=0.001). Taken together, our study underscores that the association between PM/DM and hematological malignancy, especially lymphoma, should not be ignored. Our findings also suggest that antisynthetase syndrome may be a protective factor of hematological malignancy in PM/DM patients.

[Dupuytren's contracture: percutaneous needle aponeurotomy is an alternative to surgery]. / Maladie de Dupuytren : l'aponévrotomie percutanée à l'aiguille est une alternative à la chirurgie.

Dupuytren's contracture is a retractile fibrosis of the superficial palmar aponeurosis of the hand, resulting in a progressive and fixed flexion of the fingers that may result in severe limitation of hand function. It affects several millions of people in Europe and North America. Risk factors are genetic and sometimes related to mellitus diabetes. There is no spontaneous remission. Until recently, surgery was the only treatment, but now needle aponeurotomy emerges as a therapeutic alternative. It should be performed as first line treatment by a trained practitioner. Short and long-term results of needle aponeurotomy appear identical to those of surgery, with milder complications. It is indicated in palmar, palmo-digital, as well as in strictly digital forms of the disorder. The "table-test" is used to assess the loss of extension of the digit and to select the indication to needle aponeurotomy. A medico-surgical consensus should define the optimum treatment strategy in this affection.

[Late bone metastases of a pheochromocytoma]. / Métastases osseuses tardives d'un phéochromocytome.

Pheochromocytoma is a usually benign tumor of chromaffin tissue (90% of cases). We report a 77-year-old patient with a past medical history of surgically removed pheochromocytoma that was considered to be "benign", who presented with secondary bone metastases 5 years later. A treatment combining radiation and interferon allowed to control the metastatic lesions. The possibility of late metastatic extension in patients with pheochromocytoma should be kept in mind.

Autoimmune bullous skin diseases occurring under anti-tumor necrosis factor therapy: two case reports.

BACKGROUND: Anti-tumor necrosis factor (TNF) agents are increasingly being used for a rapidly expanding number of rheumatic and systemic diseases. As a result of this use, and of the longer follow-up periods of treatment, there are a growing number of reports of the development of autoimmune processes related to anti-TNF agents. The use of anti-TNF agents has been associated with more and more cases of autoimmune diseases, principally cutaneous vasculitis, lupus-like syndrome, systemic lupus erythematosus and interstitial lung disease. OBSERVATIONS: We report 2 cases of autoimmune bullous skin disease occurring in patients undergoing TNF-targeted therapy: a bullous pemphigoid and a pemphigus foliaceus. Both patients were treated by anti-TNF agents for rheumatoid arthritis and showed improvement following interruption of that treatment. Here, we discuss the relationship between anti-TNF therapy and the occurrence of autoimmune bullous disease. CONCLUSION: Anti-TNF agents should be considered as a potential cause of drug-induced autoimmune bullous skin disease.

[Haematological complications of prostatic cancer: 2 cases, one revealing the neoplasia]. / Complications hématologiques du cancer de prostate: à propos de deux cas dont un révélateur.

INTRODUCTION: We report two cases of patients with prostate cancer who underwent haematological complications from the disease. CLINICAL CASES: Diffuse intravascular coagulopathy (with thrombopenia) was observed in two patients (55 and 59 years-old) diagnosed with prostate cancer. In one patient who had normal prostate at clinical examination, thrombopenia with incomplete diffuse intravascular coagulopathy and biological inflammatory led to diagnosis. It was initially controlled by hormonal therapy and secondary by chemotherapy. In the other patient diffuse intravascular coagulopathy followed introduction of hormonal therapy and lead to the patient's death. DISCUSSION: Patients with metastatic hormone-refractory prostate carcinoma may have life-threatening coagulation complications due to their disease. Diffuse intravascular coagulopathy is the most frequent coagulation complication. Other coagulopathies associated with prostate cancer are thrombocytopenic thrombotic purpura, thrombosis, Trousseau's syndrome and acquired factor VIII inhibitor development. Usually these haematological manifestations complicate the course of the disease and appear to have a bad prognosis. But thrombopenia or haematologic features may lead to the diagnosis of medullary metastatic prostatic cancer, even if the prostate appears normal at the initial clinical examination.