Immunodéficience commune variable: ce qu'il faut savoir [Common variable immune deficiency: what you need to know].

Common variable immune deficiency is the most frequent primary immune deficiency, characterized mainly by a disorder of B lymphocytes differentiation and a deficit in immunoglobulins. The clinical manifestations include recurrent infections, non-infectious lung and digestive involvements, autoimmune diseases, and an increased susceptibility to cancers. Recent breakthroughs have been made in the understanding of some genetic mechanisms of the disease. Replacement therapy with intravenous immunoglobulins remains the treatment of choice, which allows significant improvement in the survival and quality of life. However progress should be made in the understanding of the pathophysiology and in the early detection of this disease, since a delay in the diagnosis may have harmful consequences in terms of morbidity and mortality.

"Echoing approval": a new speech disorder.

We report the cases of two patients presenting a peculiar speech disorder, which we have named "echoing approval", in which the patients echo, in replying to questions in a dialogue with short phrases, the positive or negative syntactical construction of a question, or its positive or negative intonation, but without any repetition of whole or part of sentences. When asked about their symptoms, the patients replied 80% of the time with "yes, yes", "that's right", or "exactly" to positive questions and "no, no" or "absolutely not" to negative questions, regardless of their actual symptoms and oblivious to self-contradiction. In addition, when the examining doctor was speaking to a medical colleague in the patient's presence and using medical terminology that the patient did not understand, he/she agreed or disagreed with any sentence and technical word uttered in a way entirely dependent on the syntax or intonation used. To distinguish this speech disorder from echolalia or verbal perseverations, with which it may be superficially confused, we suggest that it be called "echoing approval", as it may be part one of the manifestations of the environment-dependency syndrome. This clinical picture was found to be associated with features of transcortical motor aphasia and frontal lobe signs. One patient had a bilateral callosofrontal malignant glioma and the other a probable multiple system atrophy with global deterioration, pre-eminent frontal release signs, diffuse leukoencephalopathy and multiple lacunes. On the basis of these clinical deficits and neuroimaging features, we are unable to delineate the common, or minimal, lesioned network required for this symptomatology to occur, especially in the absence of a series of patients, and with such a difference in both the location and causes of the lesions. However, bilateral frontosubcortical dysfunction was pre-eminent in the clinical picture in both patients, even though more diffuse brain pathology was seen in one, and it might be speculated that dysfunction of the bilateral orbitofrontal and frontomesial motor frontosubcortical circuits might be involved in the aetiology of this peculiar speech disorder.

Kidney transplantation in patients with Fabry disease

Introduction and Aims: Fabry disease is an X-linked lysosomal storage disorder caused by absence or deficient activity of the lysosomal enzyme alpha-galactosidase A. Renal manifestations occur early in life in a significant proportion of children, in many women and in almost all men with Fabry disease. These manifestations ultimately progress to end-stage renal disease in nearly all males and in some female patients. Data on kidney transplantation in patients with Fabry disease who are receiving enzyme replacement therapy (ERT), however, are scarce. Methods: We examined the clinical characteristics of kidney transplant recipients (KTRs) in the Fabry Outcome Survey (FOS) - a European database of patients with Fabry disease that was established to monitor the safety and outcome of ERT. Results: Of the 752 patients enrolled in FOS up to October 2005, 34 (4.5%) were reported to be KTRs. The mean age of these 32 male and 2 female patients was 45 ± 9 years, the median time since the transplant was 9 years, the median estimated glomerular filtration rate (eGFR) was 46 mL/min/1.73 m2 and the median level of proteinuria was 180 mg/24 hours. ERT was well tolerated, with mild infusion-related reactions reported in only one patient. Amongst these patients, 53% were reported to have hypertension, 71% left ventricular hypertrophy, 27% cardiac valve disease and 27% arrhythmia. A total of 23 (68%) of the patients (1 female, 22 males) were receiving ERT with agalsidase alfa (Replagal; Shire Human Genetic Therapies, UK), with a median duration of treatment of 2.5 years. There were no differences in age or time since transplantation between treated and untreated patients. The median eGFRs were 46 and 49 mL/min/1.73 m2 and the median levels of proteinuria were 200 and 160 mg/24 hours, respectively. Conclusions: KTRs represent a significant minority of individuals enrolled in a large international registry of patients with Fabry disease (FOS). Approximately two-thirds of KTRs with Fabry disease enrolled in FOS receive ERT with agalsidase alfa, which is well tolerated. Comparison of treated and untreated patients has the potential to examine effects of ERT on the progression of renal and cardiovascular disease.

La personnalité comme facteur prédictif des symptômes comportementaux et psychologiques chez les patients qui présentent des troubles cognitifs légers

Background and Aims: Both personality changes and behavioural and psychological symptoms (BPS) may be associated with mild cognitive impairment (MCI) in later life and help identify incipient dementia. We wished to investigate the links between personality and BPS in MCI. Method: We studied premorbid personality traits as estimated five years back and their changes in 83 control subjects and 52 MCI patients using the NEO-PI-R for the Five-Factor Model completed by a proxy. Information on BPS was obtained using the Neuropsychiatrie Inventory (NPI). Analyses were controlled for current depression and anxiety. Results: premorbid neuroticism and openness to experience were associated with the total NPI score. The changes in neuroticism, extraversion, openness to experiences, and conscientiousness were associated with apathy and affective symptoms. Conclusions: Personality changes and BPS occur in MCI. The occurrence of affective BPS and apathy is associated with both premorbid personality and their changes. - Cette thèse a eu pour objectif d'étudier l'impact des traits de la personnalité sur le développement de symptômes comportementaux et psychologiques (SCP) chez des personnes qui présentent de troubles cognitifs légers (Mild Cognitive Impairment ou MCI) par rapport à un groupe de sujets contrôle en bonne santé sans troubles cognitifs. Cette thèse s'est s'inserite dans une étude plus large regroupant des aspects neuropsychologiques, génétiques et des marqueurs structuraux cérébraux d'imagerie chez les mêmes participants. La découverte d'un MCI a un impact important en soulevant la question d'éventuels traitements préventifs et de modification du cours d'un trouble ou d'une maladie sous-jacente. Les manifestations cliniques, notamment les SCP, sont source de souffrance chez le patient et les proches et la première cause d'institutionnalisation. Connaître les liens entre la personnalité et les SCP chez les patients qui présentent un MCI s'avère primordial si l'on veut les détecter précocement et favoriser un traitement mieux adapté, tant pharmacologique que psychothérapeutique, pour tenter de freiner leur impact sur l'évolution de la maladie. Nous avons comparé 52 patients MCI avec 83 sujets contrôles. La personnalité au moment de l'étude et estimée rétrospectivement à cinq ans en arrière a été évalué par un proche à l'aide du NEO-PI-R, principal instrument basé sur le Five Factor Model. Pour évaluer la présence de SCP nous avons utilisé l'inventaire neuropsychiatrique (NPI-Q). Les analyses ont étés contrôlées en tenant compte des principales variables confondantes. Le groupe MCI présente des traits de personnalité prémorbide différents de ceux des participants contrôles avec des niveaux inférieurs d'ouverture à l'expérience, d'agréabilité et de conscience. Les changements de personnalité sont marqués chez les MCI avec une augmentation du névrosisme et une diminution de l'extraversion et de la conscience. La personnalité est restée stable chez le groupe contrôle. Le groupe MCI présente souvent des SCP, en particulier des symptômes affectifs (dépression, anxiété, irritabilité, troubles du sommeil) et de l'apathie tandis que les SCP sont presqu'inexistantes chez le groupe contrôle. Les valeurs de névrosisme plus élevés et l'ouverture à l'expérience plus basses sont associées à la présence de SCP. En plus, le changement de la personnalité, à savoir l'augmentation du névrosisme et la diminution de conscience sont associées à la présence de SCP, aux symptômes affectifs et à l'apathie. La diminution d'extraversion et d'ouverture à l'expérience sont associées à la présence de SCP, aux symptômes affectifs mais pas à l'apathie. Cette étude montre que la personnalité change déjà au stade de MCI et que l'apparition des SCP affectifs et de l'apathie est précoce. Certains profils prémorbides et changements de personnalité sont associés à la présence de SCP. L'évaluation de ces changements peut favoriser le diagnostic précoce des troubles cognitifs. Des études prospectives sur des patients MCI sont essentielles afin d'approfondir la compréhension des facteurs de risque liés à la personnalité sur le déclin cognitif et les SCP associés.

Manual therapy followed by specific active exercises versus a placebo followed by specific active exercises on the improvement of functional disability in patients with chronic non specific low back pain: a randomized controlled trial.

BACKGROUND: Recent clinical recommendations still propose active exercises (AE) for CNSLBP. However, acceptance of exercises by patients may be limited by pain-related manifestations. Current evidences suggest that manual therapy (MT) induces an immediate analgesic effect through neurophysiologic mechanisms at peripheral, spinal and cortical levels. The aim of this pilot study was first, to assess whether MT has an immediate analgesic effect, and second, to compare the lasting effect on functional disability of MT plus AE to sham therapy (ST) plus AE. METHODS: Forty-two CNSLBP patients without co-morbidities, randomly distributed into 2 treatment groups, received either spinal manipulation/mobilization (first intervention) plus AE (MT group; n = 22), or detuned ultrasound (first intervention) plus AE (ST group; n = 20). Eight therapeutic sessions were delivered over 4 to 8 weeks. Immediate analgesic effect was obtained by measuring pain intensity (Visual Analogue Scale) before and immediately after the first intervention of each therapeutic session. Pain intensity, disability (Oswestry Disability Index), fear-avoidance beliefs (Fear-Avoidance Beliefs Questionnaire), erector spinae and abdominal muscles endurance (Sorensen and Shirado tests) were assessed before treatment, after the 8th therapeutic session, and at 3- and 6-month follow-ups. RESULTS: Thirty-seven subjects completed the study. MT intervention induced a better immediate analgesic effect that was independent from the therapeutic session (VAS mean difference between interventions: -0.8; 95% CI: -1.2 to -0.3). Independently from time after treatment, MT + AE induced lower disability (ODI mean group difference: -7.1; 95% CI: -12.8 to -1.5) and a trend to lower pain (VAS mean group difference: -1.2; 95% CI: -2.4 to -0.30). Six months after treatment, Shirado test was better for the ST group (Shirado mean group difference: -61.6; 95% CI: -117.5 to -5.7). Insufficient evidence for group differences was found in remaining outcomes. CONCLUSIONS: This study confirmed the immediate analgesic effect of MT over ST. Followed by specific active exercises, it reduces significantly functional disability and tends to induce a larger decrease in pain intensity, compared to a control group. These results confirm the clinical relevance of MT as an appropriate treatment for CNSLBP. Its neurophysiologic mechanisms at cortical level should be investigated more thoroughly. TRIAL REGISTRATION: Trial registration number: NCT01496144.

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Pulmonary involvement in Fabry disease has received less attention than the effects of the disease on the kidneys, nervous system or heart. However, data from FOS -the Fabry Outcome Survey - are now helping to elucidate the pulmonary manifestations of Fabry disease. Twenty-three patients out of a cohort of 67 analysed in FOS have been identified with airway obstruction, as defined by a ratio of forced expiratory volume in 1 second to forced vital capacity of less than 0.7. This prevalence is much greater than would be expected in the general population, with the main risk factors appearing to be increasing age and male gender. Spirometric analysis has revealed that the airway obstruction is clinically much more similar to chronic obstructive pulmonary disease than to asthma. Although little is known about the anatomical changes responsible for airway obstruction in patients with Fabry disease, airway wall hyperplasia and/or fibrosis are potential causes. Treatment of patients with moderate or severe airway obstruction should include inhaled bronchodilators, and individuals who smoke should be encouraged to stop. Further studies and future analyses of FOS data should determine whether enzyme replacement therapy is able to help or prevent the pulmonary manifestations of Fabry disease.

Severity of endoscopically detected esophageal inflammatory and fibrostenotic features correlates with degree of esophageal eosinophilia in adults with eosinophilic esophagitis

Background: Eosinophilic esophagitis (EoE) has emerged as a leading cause of dysphagia in adults. Characteristic esophageal features on endoscopy include structural/fibrostenotic (rings, narrow caliber, strictures) and inflammatory manifestations (longitudinal furrows, exudates, edema). Aim: The purpose of this study was to correlate the clinical, endoscopic and histopathologic features in adult EoE patients. Methods: A total of 106 encounters of 81 patients with EoE were analyzed. Data included an EoE-directed symptom-severity patient questionnaire evaluating symptoms of dysphagia (frequency, intensity, duration), meal duration, chest pain, and overall symptom severity. Video recordings of endoscopies were reviewed in a blinded manner using a classification and grading scheme for the esophageal features of EoE. Histopathology was reviewed for peak eosinophil count/high power field by pathologists blinded to the patients' clinical status. Associations between endoscopic features, histology and symptoms were evaluated using the Spearman rank correlation analysis. Results: The endoscopic severity of both structural and inflammatory esophageal features of EoE, including rings, exudates, longitudinal furrows, and edema, correlated significantly with peak eosinophil counts (see Table 1). Presence of "crepe paper mucosa" did not demonstrate significant association with peak eosinophil counts. Both structural (rings, narrow-caliber esophagus and strictures) and inflammatory (furrows, exudates and edema) composite endoscopic scores demonstrated a strong correlation with peak eosinophil counts. The strongest association with the degree of esophageal eosinophilia was found with a combination of both structural and inflammatory findings (p < 0.0001). The esophageal diameter (in mm) was negatively correlated with overall symptom severity (Spearman's rho = -0.4883, P = 0.0339). None of the individual or combined patient reported symptoms correlated significantly with either endoscopic or histopathologic findings. Conclusion: The severity of both structural and inflammatory endoscopic features associated with EoE is significantly associated with the degree of esophageal eosinophilia. Patient reported symptom severity was not associated with the degree of esophageal eosinophilia. Esophageal stricture diameter was inversely correlated with EoE symptom severity. The prognostic and therapeutic implications of these observations need to be determined.

Characterisation of the prodrome to a first episode of psychotic mania: results of a retrospective study.

BACKGROUND: Little is known about the early phases of bipolar disorders (BPAD) and most of current knowledge derives from putative "high-risk" studies conducted in populations of bipolar off-spring; such information may therefore be relevant only to a sub-group of at-risk subjects. METHODS: Retrospective assessment of the phase preceding the emergence of mania and of premorbid characteristics of patients treated for a first episode of psychotic mania. The collected data was used mainly to generate hypotheses. RESULTS: Before onset of a first episode of psychotic mania, patients go through a phase of change from previous mental state where they present mood symptoms, sleep disruption and general functional decline. These clinical manifestations are however likely to have low specificity. However, their occurrence in patients presenting certain risk factors or markers of vulnerability that were identified at a relatively high prevalence in our sample, may be an indicator of impending first episode mania. LIMITATIONS: This is a retrospective study, in a small sample of patients presenting with psychotic mania. Criteria identified need therefore to be validated in larger prospective studies. CONCLUSIONS: Early identification of patients at risk to develop a first episode of psychotic mania is unlikely to be possible on the basis of symptoms alone. However, the occurrence of certain clinical characteristics in patients who have risk factors or markers of vulnerability to BPAD could be a sign of impending first episode mania.

Hépatopathies gravidiques [Pregnancy-associated liver diseases]

Les hépatopathies sont rares au cours de la grossesse, mais peuvent avoir des conséquences dramatiques pour la mère et l'enfant si elles ne sont pas diagnostiquées à temps. On différencie principalement les hépatopathies spécifiquement secondaires à la grossesse des intercurrentes. Parmi les premières, on peut citer les manifestations hépatiques de l'hyperemesis gravidarum, la cholestase intrahépatique gravidique, les atteintes hépatiques lors d'une (pré-)éclampsie, y compris le syndrome HELLP, et la stéatose hépatique aiguë gravidique. Le diagnostic différentiel est basé sur l'anamnèse (stade de la grossesse), la clinique, quelques examens de laboratoire et l'échographie comme imagerie de première intention. Le traitement d'une cholestase intrahépatique gravidique par acide ursodésoxycholique améliore le prurit et les tests hépatiques maternels. Une surveillance rapprochée de la grossesse reste cependant indispensable. Lors d'un syndrome HELLP ou d'une stéatose hépatique aiguë gravidique, il faut procéder à l'accouchement le plus vite possible. Toutes les hépatopathies déjà connues nécessitent un suivi strict durant la grossesse. While liver diseases are a rare occurrence in pregnancy, they may have dramatic implications for mother and child if not detected in good time. A distinction is drawn between pregnancy-specific liver diseases and intercurrent liver diseases during pregnancy. The former include hepatic manifestations of hyperemesis gravidarum, intrahepatic cholestasis of pregnancy, hepatic involvement in preeclampsia or eclampsia, including the HELLP syndrome, and acute fatty liver of pregnancy. Differential diagnosis of pregnancy-associated liver disorders is based on history (stage of pregnancy), clinical findings, a few laboratory tests and ultrasound as the primary imaging technique. Treatment of intrahepatic cholestasis of pregnancy with ursodeoxycholic acid improves pruritus and maternal liver tests. Close monitoring of pregnancy remains however indispensable. In HELLP syndrome and acute fatty liver of pregnancy the aim should be rapid delivery. Preexisting liver diseases require intensified monitoring during pregnancy.

Effets de la stimulation sousthalamique bilatérale sur la voix et la parole de patients parkinsoniens

La maladie de Parkinson (MP) est une maladie neurodégénérative atteignant 1-2% des¦personnes de plus de 60 ans (1). Ses signes cliniques ont été décrits par James Parkinson¦en 1817 dans : « An essay on the Shaking palsy» (2). Les signes cardinaux sont le¦tremblement de repos, la rigidité et la bradykinésie. Certaines définitions y ajoutent l'instabilité¦posturale. D'autres manifestations, non motrices, telles qu'une dysfonction autonome et¦sensitive, des troubles de l'humeur, des troubles du sommeil et des démences peuvent¦apparaître en cours d'évolution. Le traitement actuel de la MP est principalement¦pharmacologique. Il consiste en l'administration du précurseur de la dopamine, la levodopa¦(L-dopa). Pourtant, l'utilisation à long terme de la L-dopa induit des fluctuations motrices telles¦que dyskinésies et dystonies. Au cours du siècle dernier, de nombreux traitements¦chirurgicaux ont été tentés, en particulier des procédures ablatives (thalamotomie,¦pallidotomie, subthalamotomie). Elles ont le désavantage d'induire des séquelles non¦négligeables telles que des parésies et des troubles neurocognitifs. La chirurgie ablative a¦été abandonnée avec l'arrivée de la L-dopa dans les années 1960. Les limitations de la¦thérapie par la L-dopa associées aux améliorations de la neuro-imagerie, de la sécurité des¦procédures neurochirurgicales ainsi que des techniques d'implantation ont permis le¦développement de procédures stimulatrices dans les années 1990. La stimulation cérébrale¦profonde des noyaux sous-thalamiques est devenue une stratégie thérapeutique bien établie¦chez les patients atteints d'une MP avancée. Malgré une excellente réponse motrice des¦membres, l'impact de la stimulation cérébrale profonde sur la parole est controversé (2).¦Le but de cette étude est de déterminer l'influence aigüe des stimulateurs sous-thalamiques¦sur des paramètres objectifs et quantitatifs, ainsi que sur un paramètre subjectif de la¦dysarthrie parkinsonienne. Nous allons comparer dans notre groupe de patients deux¦conditions successives: patient avec stimulateurs éteints et sans médication (OFF/nm)¦versus avec stimulateurs allumés et sans médication (ON/nm). Nous allons ensuite effectuer¦des analyses statistiques afin de déterminer si les stimulateurs sous-thalamiques ont un effet¦aigu bénéfique ou non sur certains paramètres vocaux, puis sur l'intelligibilité globale de la¦parole. En effet, l'intelligibilité nous informe sur la capacité de communication du patient avec¦son entourage.

Anti-TNF Therapy in the Treatment of Psoriasis in a Patient with Acute-on-Chronic Pancreatitis.

Background: Psoriasis is accepted as a multisystemic disease with several important systemic manifestations. Thus, underlying comorbidities have to be taken into account in the choice of treatment. Objective: To explore the role of anti-TNF therapy in the treatment of psoriasis in a patient with acute-on-chronic pancreatitis. Methods: Here, we present the case of a 75-year-old patient with severe psoriasis also suffering from chronic alcohol-induced pancreatitis with recurrent acute flares. A recent life-threatening episode of acute pancreatitis and ischemic liver precluded the reintroduction of methotrexate. Cyclosporine was also excluded as it has been reported to induce acute pancreatitis. Thus, an anti-TNF treatment was initiated in close collaboration with a gastroenterologist. Results: A year after starting anti-TNF therapy the patient continues to show complete clinical remission of his psoriasis. No side effects, particularly no bacterial infections, were reported. No relapses of the patient's underlying chronic pancreatitis were observed throughout the entire treatment with regular clinical and laboratory monitoring, suggesting that chronic pancreatitis is not per se a contraindication for anti-TNF therapy. Conclusion: This case study opens the way for further questioning on the role of TNF in the pathogenesis of chronic and acute pancreatitis and the use of anti-TNF therapy in its treatment. © 2013 S. Karger AG, Basel.

Actualiser le passé : figures antiques du Moyen Âge à la Renaissance

Résumé : En littérature comme dans les arts figuratifs, voire dans la réalité vécue, l'Antiquité se révèle avoir une proximité plus ou moins grande selon les périodes et les auteurs, mais elle a toujours été présente, toujours féconde. La frontière poreuse entre l'ancien et le moderne fait de l'Antiquité et du Moyen Âge, puis de l'Antiquité et de l'early modern des vases communicants. C'est là une conviction aujourd'hui largement partagée et plusieurs manifestations récentes ont eu pour objet cet aspect-clé de la culture occidentale. Les contributions réunies dans les présents Actes sont le fruit d'un colloque interdisciplinaire de deux jours (13 et 14 mai 2011) organisé par le Centre d'Études Médiévales et Post-Médiévales (CEMEP) de l'Université de Lausanne ; elles ont, chacune, apporté leur pierre à une réflexion en marche en portant des regards croisés sur les formes d'actualisation que connaissent - entre continuités et discontinuités - les figures antiques du Moyen Âge à la Renaissance. Le volume s'articule en trois parties, dans lesquelles le lecteur trouvera des contributions dues à la plume de spécialistes de l'histoire, de l'histoire de l'art et de la littérature : I. Réécritures : entre éthique et esthétique II. Translations politiques III. Actualisation : du Moyen Âge à la modernité

Beclin 1 mitigates motor and neuropathological deficits in genetic mouse models of Machado-Joseph disease.

Machado-Joseph disease or spinocerebellar ataxia type 3, the most common dominantly-inherited spinocerebellar ataxia, results from translation of the polyglutamine-expanded and aggregation prone ataxin 3 protein. Clinical manifestations include cerebellar ataxia and pyramidal signs and there is no therapy to delay disease progression. Beclin 1, an autophagy-related protein and essential gene for cell survival, is decreased in several neurodegenerative disorders. This study aimed at evaluating if lentiviral-mediated beclin 1 overexpression would rescue motor and neuropathological impairments when administered to pre- and post-symptomatic lentiviral-based and transgenic mouse models of Machado-Joseph disease. Beclin 1-mediated significant improvements in motor coordination, balance and gait with beclin 1-treated mice equilibrating longer periods in the Rotarod and presenting longer and narrower footprints. Furthermore, in agreement with the improvements observed in motor function beclin 1 overexpression prevented neuronal dysfunction and neurodegeneration, decreasing formation of polyglutamine-expanded aggregates, preserving Purkinje cell arborization and immunoreactivity for neuronal markers. These data show that overexpression of beclin 1 in the mouse cerebellum is able to rescue and hinder the progression of motor deficits when administered to pre- and post-symptomatic stages of the disease.

Schwangerschaftsassoziierte Lebererkrankungen [Pregnancy-associated liver diseases]

Lebererkrankungen treten in der Schwangerschaft selten auf, können jedoch für Mutter und Kind dramatische Folgen haben, wenn sie nicht rechtzeitig erkannt werden. Prinzipiell unterscheidet man schwangerschaftsspezifische Lebererkrankungen von interkurrierenden Lebererkrankungen während der Schwangerschaft. Zu ersteren gehören die hepatischen Manifestationen der Hyperemesis gravidarum, die intrahepatische Schwangerschaftscholestase, die Leberbeteiligung bei Präeklampsie bzw. Eklampsie inkl. HELLP-Syndrom und die akute Schwangerschaftsfettleber. Die Differentialdiagnose schwangerschaftsassoziierter Lebererkrankungen basiert auf der Anamnese (Stadium der Schwangerschaft), der Klinik, wenigen Laboruntersuchungen und einer Ultrasonographie als primärem bildgebendem Verfahren. Die Behandlung der intrahepatischen Schwangerschaftscholestase mit Ursodeoxycholsäure verbessert den Pruritus und die mütterlichen Leberwerte. Eine engmaschige Überwachung der Schwangerschaft bleibt jedoch unabdingbar. Beim HELLP-Syndrom und der akuten Schwangerschaftsfettleber ist die rasche Entbindung anzustreben. Vorbestehende Lebererkrankungen bedürfen in der Schwangerschaft einer intensivierten Kontrolle. While liver diseases are a rare occurrence in pregnancy, they may have dramatic implications for mother and child if not detected in good time. A distinction is drawn between pregnancy-specific liver diseases and intercurrent liver diseases during pregnancy. The former include hepatic manifestations of hyperemesis gravidarum, intrahepatic cholestasis of pregnancy, hepatic involvement in preeclampsia or eclampsia, including the HELLP syndrome, and acute fatty liver of pregnancy. Differential diagnosis of pregnancy-associated liver disorders is based on history (stage of pregnancy), clinical findings, a few laboratory tests and ultrasound as the primary imaging technique. Treatment of intrahepatic cholestasis of pregnancy with ursodeoxycholic acid improves pruritus and maternal liver tests. Close monitoring of pregnancy remains however indispensable. In HELLP syndrome and acute fatty liver of pregnancy the aim should be rapid delivery. Preexisting liver diseases require intensified monitoring during pregnancy.