Le lupus systémique à début pédiatrique : une pathologie polygénique ou monogénique ?

Systemic lupus erythematosus (SLE) results from the complex interaction between genetic and environmental factors. It is usually thought that SLE results from the combined effect of variants in a large number of genes, and several genome whole association studies (GWAS) have identified a great number of single-nucleotide polymorphisms (SNP) associated with SLE. However, the loci identified so far can account for only about 15% of the heritability of SLE. Recently, some Mendelian variants of lupus have been identified, especially in childhood-onset SLE. Children present with more severe illness, a lower sex-ratio female:male and a higher genetic contribution compared to adults with SLE. pSLE phenotype heterogeneity could be related to genetic heterogeneity, and pSLE in part might consist in a collection of rare, genetically distinct monogenic disorders.     

Le syndrome d’activation lymphohistiocytaire de l’adulte

Hemophagocytic lymphohistiocytosis is a life-threatening condition associated with multiple organ dysfunctions. This entity is related to inappropriate stimulation and proliferation of cytotoxic lymphocytes and macrophages inducing phagocytosis of blood cells. Hemophagocytic lymphohistiocytosis should be considered rapidly in any unexplained febrile cytopenia. Biological markers are high ferritin and triglyceride levels, and low fibrinogen. Hemophagocytic lymphohistiocytosis diagnosis should not be ruled on or out solely on the presence or absence of hemophagocytosis features on smear or biopsy sampling. It is either “primary/genetic” (pediatric or familial disorders) and characterized by a lack of intrinsic cytotoxicity of NK cells or T CD8 lymphocyte, or “secondary/reactive” due to malignancy, infectious or autoimmune origin. Mortality is 50% (including all etiologies), and this severity requires rapid and “aggressive” investigations with multidisciplinary approach including intensive care unit team. The immediate aim of therapy is suppression of the severe hyper-inflammation, which can lead to multiple organ failure. Emergency treatment is currently based on etoposide (VP16), pending to the identification and treatment of underlying cause.     

Enjeux et moyens du suivi des malades souffrant de la maladie d’Alzheimer

The following article presents the main points of the follow-up plan of Alzheimer's disease (AD) and related syndromes patients. The general objective of this follow-up plan is to improve the quality of live of these subjects and their family. The key points are assessments of cognitive decline, functional decline and complications such as behavioural and psychological symptoms of dementia (BPSD), malnutrition and gait and balance disorders. In clinical practice, different tools are available, but frequency of evaluation is not consensual. However, the aim of this follow-up is to detect, prevent and treat complications and to improve the use of residual functional abilities in basic activities of daily living. The physician also needs to detect and prevent caregiver's exhaustion and to consider the ethical issues raised by the disease. The care plan is based on non pharmacological and pharmacological measures. The non pharmacological approach must be implemented first. The place of antidementia drugs is considered. Lastly, this follow-up plan aims to limit iterative admissions to emergency room and to increase the access to geriatric units. Communication and collaboration between specialist, family practitioner and caregivers are needed in order to reach the objective of quality of life improvement in AD patients.     

L’atteinte bronchique dans la pneumopathie d’hypersensibilité

Hypersensitivity pneumonitis (HP) is a respiratory disease resulting from the inhalation of antigens to which the exposed subject was previously sensitized. HP is characterized by a diffuse and predominantly mononuclear cell inflammation of the alveolar regions that generally involves the small airways. Bronchiolitic lesions are well-described in histopathologic studies. This pathology explains the presence of mosaic attenuation and expiratory air trapping on thoracic scans. Chronic bronchitis with ventilatory obstruction and emphysema as a long-term outcome are possible consequences of this bronchial involvement.     

Physiopathologie du lupus systémique : le point en 2014

Systemic lupus erythematous is a chronic autoimmune disease characterized by the inflammation of several tissues and the production of auto-antibodies directed against nuclear antigens. Complex genetic disorders and environmental factors are at the origin of the disease but the precise cause of the auto-immune process is still unknown. Both innate and adaptive immune systems are involved. Apoptosis seems to be the main source of auto-antigens. The interactions between apoptotic cells, dendritic cells and lymphocytes activate the production of pathogenic antibodies and T lymphocytes. Amplification loops sustain the auto-immune process and the chronic inflammation. Several data point out B-lymphocytes and several cytokines involved in their homeostasis as new promising therapeutic targets.     

La péricardite tuberculeuse : un diagnostic qui reste d’actualité

Vaccination against tuberculosis is not an obligation anymore in France, except for children at risk, but this disease remains not so rare, including its extrapulmonary forms. The authors report the case of a 27-year-old Madagascan HIV seronegative patient, who developed a pericardial effusion when coming back from a long stay in Madagascar. An anti-inflammatory treatment and then a probabilistic antibiotic treatment were ineffective, and at the same time echocardiographic signs of tamponade appeared. As a consequence, it was decided to perform a surgical pericardial drainage and a biopsy, and to introduce an antituberculosis chemotherapy, given the epidemiologic status. The course was then quickly favorable. The presence of granulomatous inflammation on the biopsy and an elevated pericardial adenosine deaminase activity level retrospectively supported the diagnosis of tuberculous pericarditis.     

Encéphalopathie d’Hashimoto

Hashimoto's encephalopathy was first described by Lord Brain in 1966. Since, other designations have been proposed and the existence of the disease itself has been debated. However, the number of reported cases in the literature is still increasing and physicians are sometimes confronted with patients with neuropsychiatric manifestations and positive thyroid antibodies. This article is an update based upon a search through Medline database that identified 316 references published between 1961 and 2011. Hashimoto's encephalopathy is a rare condition for which there is a need for both diagnostic criteria and therapeutic consensus.     

Syndrome d’hypersensibilité chimique multiple : physiopathologie et clinique

Multiple chemical sensitivity (MCS) is a widely discussed entity that appears to be increasing. A number of pathophysiological mechanisms, including immunological, toxicological and neurological ones, and, in addition, psychological and sociological factors, have been proposed. The most plausible data, although still debated, concern the neurotoxic hypothesis. Clinically, objective criteria for diagnosis are lacking and the diagnosis of MCS is made on the basis of the patient's history. In 1999, a consensus established six major criteria defining this condition. No laboratory investigations have been validated for the diagnosis. Despite the uncertainties of certain experts on the origin and even on the existence of MCS, nevertheless, most of them accept the reality of the distress of the affected individuals.     

Maladie de Lyme avec hépatite et corticothérapie : à propos d’une observation

Introduction

Abnormalities of liver function tests have been occasionally described in large series of Lyme disease, but only one case of hepatitis directly related to infection have been described in literature.

Case report

A 78-year-old-man, with a past medical history of polymyalgia rheumatica (PMR) who had discontinued corticosteroids two years before, presented a transient acute fever and liver cholestasis and cytolysis after an exposure to tick bites. A few days later, cervical pain occurred and corticosteroids were resumed as a PMR relapse was suspected. Hematogenous dissemination with acute meningoradiculitis and multiple erythema migrans led to conclude to a stage 2 Lyme disease.

Conclusion

Although hepatitis complicating the course of Lyme disease has been described in literature, the marked inflammation in our patient led us to investigate the possibility of a co-infection. Also, we discuss the responsibility of corticosteroids in clinical worsening of Lyme disease if they are prescribed without concomitant antibiotics.