European journal of case reports in internal medicine最新文献

{"title":"From Fibrosis to Granuloma: Drug Induced Systemic Sarcoidosis-Like Reaction After Rituximab in a Patient with Primary Sjögren's Syndrome.","authors":"Rui Rua Coelho, Sara Pires Xavier, José Ricardo Brandão, Inês Furtado","doi":"10.12890/2024_005070","DOIUrl":"10.12890/2024_005070","url":null,"abstract":"<p><p>Sarcoidosis is a multisystemic syndrome characterized by non-caseous granulomatous inflammation, although necrotizing sarcoid granulomatosis is considered part of the spectrum of the disease. Drug induced sarcoidosis-like reaction (DISR) is a systemic granulomatous reaction, which is histopathologically identical to primary sarcoidosis - mostly described after the use of biologics like tumour necrosis factor alpha antagonists but also anti-CD20 (rituximab). The authors present the very rare case of a woman with a primary Sjögren's syndrome (pSS) started on rituximab for disease control, which evolved with a 3-year indolent progressive systemic sarcoid reaction. There has been much speculation about the potential role of B cells in sarcoidosis. Findings show a decrease of B memory cells and an increase in naïve and active subsets of regulatory B cells in sarcoidosis patients, which resembles the repopulation with naïve B cells after treatment with rituximab. Moreover, granulomatous lymphocytic interstitial lung disease associated with common variable immunodeficiency and immune reconstitution syndrome in patients wirh human immunodeficiency virus show clinical similarities to DISR and can help unveil new cytogenic and physiologic pathways. To the authors' knowledge this is the first report of a systemic sarcoidosis-like reaction with necrotizing granulomas following an anti-CD20 therapy and also the first described in a pSS patient - underlining the importance of recognizing necrotizing sarcoid granulomatous processes in the diferential diagnosis of patients with caseous inflammation. Although this is a very rare adverse effect, the case enhances the importance of actively searching for DISR after biologics, even in patients undergoing rescue on-label therapies, such as rituximab.</p><p><strong>Learning points: </strong>First report of a systemic sarcoidosis-like reaction with necrotizing granulomas following an anti-CD20 therapy, in a patient with primary Sjögren's syndrome.Recognizing immunotherapy and biological therapies as the possible causative agents of rare and underrecognized adverse effects in patients with rare diseases in the era of biologics.Recognizing necrotizing sarcoid granulomas in the diferential diagnosis of patients with caseous inflammation.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005070"},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716314/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lemierre's Syndrome in a 16-Year-Old Man Associated with Resolution of Marked Widespread St Elevation and a Normal Troponin Level.","authors":"Sylvia Amini, Salim Meghjee, Muhammad Rahim Khan","doi":"10.12890/2024_005062","DOIUrl":"10.12890/2024_005062","url":null,"abstract":"<p><p>A 16-year-old man presented to the Accident and Emergence services with a 10-day history of shortness of breath, sore throat, vomiting, diarrhoea, poor oral intake, chest pain, jaundice, diplopia and reduced urine output. He was initially treated for sepsis, however, subsequent imaging and blood cultures confirmed the diagnosis of Lemierre's syndrome (LS). LS, also known as necrobacillosis or post-pharyngitis anaerobic septicaemia is comprised of a triad of metastatic septic emboli secondary to pharyngitis, bacteraemia, and internal jugular vein thrombophlebitis. <i>Fusobacterium necrophorum</i>, a Gram-negative anaerobe, is the most common culprit of LS, followed by <i>Fusobacterium nucleatum</i> and anaerobic bacteria such as streptococci, staphylococci, and Klebsiella. LS is also called the forgotten syndrome because although use of antibiotics at first decreased the prevalence of LS, resistance to antibiotics has caused a rise in LS and it is no longer a forgotten disease. LS should be on the differential diagnosis of chest empyema if it follows pharyngitis or tonsillitis with neck pain, lymphadenopathy and sepsis, hence taking a thorough history is the key to diagnose it earlier. It is paramount to do chest X-ray, Doppler ultrasound of the neck veins and computed tomography (CT) scan of the neck and chest to look for features of LS. LS can be fatal if not diagnosed and treated properly. Empirical antibiotic therapy should be prescribed for a minimum of 3 weeks and should cover anaerobic bacteria and Gram-negative rods.</p><p><strong>Learning points: </strong>The incidence of Lemierre's syndrome (LS) is rising possibly to antibiotic resistance and fewer tonsillectomies which should increase awareness of the signs and symptoms of LS. It is no longer the forgotten disease.Pharyngitis can have serious complications including glomerulonephritis, rheumatic fever, and tonsillar cysts. However, LS is one of the most fatal complications of pharyngitis and must certainly be considered in the differential diagnoses.Even if the sore throat resolves post oropharyngeal infection or the blood culture comes back negative, if the patient is feeling unwell, this should be treated as a red flag for further investigations. Prompt investigation and management of LS is the key to saving patient's life as the mortality rate in LS is high.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005062"},"PeriodicalIF":0.0,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anaemia of Inflammation Preceding Dyspnoea, Dry Cough and Weight Loss in Primary Pulmonary Lymphoma.","authors":"Ami Schattner, Ariel Rokach, Fiona Vernea, Maria Spector, Kalman Filanovsky","doi":"10.12890/2024_004997","DOIUrl":"10.12890/2024_004997","url":null,"abstract":"<p><strong>Introduction: </strong>There is little information in the literature on the early, sub-clinical stage and laboratory test results in patients with primary mucosa-associated lymphoid tissue (MALT) lymphoma of the lung, a rare disease.</p><p><strong>Case description: </strong>In a 75-year-old man, an open lung biopsy-confirmed diagnosis of primary pulmonary lymphoma was preceded by almost six months of anaemia of inflammatory disease and monocytosis without any pulmonary symptoms. When he developed a dry cough, increasing dyspnoea and marked weight loss, these changes deepened and became associated with reactive thrombocytosis; markedly increased ferritin and C-reactive protein (positive acute-phase reactants), as well as reduced albumin and transferrin (negative acute-phase reactants). Globulins increased, due to an increase in the alpha1, alpha2 and gamma fractions, and mild hyponatraemia developed due to the syndrome of inappropriate antidiuretic hormone secretion (SIADH) secondary to the intrathoracic disease. All these changes were completely reversible following successful treatment and complete remission.</p><p><strong>Conclusion: </strong>The previously unreported detailed laboratory features of early, sub-clinical and advanced primary pulmonary lymphoma are presented. When a potentially susceptible patient develops an unexplained anaemia of inflammatory disease, primary pulmonary lymphoma should be added to the differential diagnosis.</p><p><strong>Learning points: </strong>B-cell pulmonary lymphoma without extra-pulmonary disease (primary pulmonary lymphoma) remains a rare entity, often arising from mucosa-associated lymphoid tissue, presenting with non-specific symptoms (cough, dyspnoea) and imaging (nodules <5 cm or areas of consolidation on CT), and diagnosed by an adequate biopsy.Our patient's course demonstrates early, pre-clinical changes: anaemia of inflammation and monocytosis, which became more severe as symptoms developed and imaging abnormalities progressed, and was associated with marked acute-phase response (for example, substantially increased ferritin levels), increased globulins and hyponatraemia due to the syndrome of inappropriate antidiuretic hormone secretion.In patients with unexplained anaemia of inflammatory disease, occult pulmonary lymphoma should be considered in the differential diagnosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"004997"},"PeriodicalIF":0.0,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716307/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upper Arm Deep Vein Thrombosis in a Patient with Active Lupus.","authors":"Mahmoud Farouk Kamel Hassanein, Alaa Ebrahim, Stephanie Alcine Joseph, Teresa Jack, Ramprasath Anbazhagan, Miguel Fernández Olivares, Olena Kovalska","doi":"10.12890/2024_005056","DOIUrl":"10.12890/2024_005056","url":null,"abstract":"<p><p>Upper extremity deep vein thrombosis (UEDVT) is relatively rare, and much less as an initial presentation of systemic lupus erythematosus (SLE). Primary UEDVT should be considered in individuals with unilateral arm swelling where the brachial, axillary, and subclavian veins are frequently involved. SLE is a chronic autoimmune disease that predominantly affects women of childbearing age and of African descent. Patients present with clinical features ranging from arthritis and arthralgias (over 90% of patients with SLE) to life-threatening hematologic, or central nervous system involvement. Individuals have an increased risk of arterial and/or venous thrombosis where the most important risk factor is the presence of antiphospholipid antibodies. Even within this condition, thrombotic events are typically seen in the legs, and UEDVT remains an unusual presentation. Here, we present a case of a 36-year-old female of African descent with a recent medical history of small joint arthralgia and vaginal bleeding due to uterine fibroids, for which she was prescribed a short course of prednisolone and norethisterone, respectively. She presented with a 2-week history of unilateral swelling in the left arm. Doppler ultrasound and later computed tomography scan with contrast indicated left UEDVT. Further investigations throughout her admission led to the diagnosis of SLE, while antiphospholipid syndrome - a common contributor to thrombosis in SLE - was notably ruled out. The patient was initiated on anticoagulants. The patient went on to later rapidly develop lupus nephritis and started on high-dose prednisolone. Given the high risk of bleeding, the decision to postpone the kidney biopsy was taken. There is limited data available about UEDVT when compared to lower extremity DVT and even fewer studies on SLE patients with thrombosis in the absence of antiphospholipid syndrome. Keeping this in mind, clinicians need to recognize idiopathic UEDVT as a potential early sign of SLE and maintain a high level of suspicion.</p><p><strong>Learning points: </strong>To highlight the possibility of idiopathic upper extremity deep vein thrombosis (UEDVT) in spontaneous unilateral arm swelling.Idiopathic UEDVT might indicate a serious underlying autoimmune condition as SLE in this case (in the absence of antiphospholipid syndrome), that requires intensive thorough investigation by a multidisciplinary team.Initial treatment of both UEDVT and lupus nephritis with standard dose anticoagulants and steroids might be the proper initial management, whereas kidney biopsy might not be necessary as the risk of bleeding is high while on anticoagulants.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005056"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cytomegalovirus Infection in an Immunocompetent Host Presenting as Hemophagocytic Lymphohistiocytosis.","authors":"Inês Matias-Lopes, Henrique Atalaia-Barbacena, Margarida Guiomar, Raquel Soares, Catarina Barão, Ana Rita Ferreira, Federica Parlato, Patrícia Howell-Monteiro","doi":"10.12890/2024_005071","DOIUrl":"10.12890/2024_005071","url":null,"abstract":"<p><p>Cytomegalovirus (CMV) is a human herpes virus with a worldwide seroprevalence of 60-100%, mainly known to cause severe life-threatening disease in immunocompromised patients. In immunocompetent hosts (IMCh), CMV causes a self-limiting mononucleosis-like infection, and severe pictures are less recognized. We report a case of a previously healthy 62-year-old woman evaluated in the Internal Medicine outpatient clinic for 3 weeks of progressive fatigue, generalised inflammatory arthralgias, hypogastric discomfort and daily persistent fever. On first examination, paleness and hepatomegaly were noted. Further evaluation showed the presence of haemolytic anaemia; lymphocytosis and monocytosis; thrombocytosis; elevated C-reactive protein; hypertriglyceridemia and hyperferritinaemia; peripheral blood immunophenotyping with a 44% population of T cells and diminished CD4/CD8 ratio. Hemophagocytic lymphohistiocytosis (HLH) was suspected, with an Hscore of 190 points, giving a 70-80% probability. CMV serology was positive for acute infection (IgM positive/IgG negative), with a viral load of 4470 IU/ml. CMV primary infection was admitted, complicated with haemolytic anaemia, cholestatic hepatitis and possible HLH. Despite the laboratory frame exuberance, the patient remained stable and was discussed with Infectious Diseases, deciding not to initiate antiviral therapy. Over the next month, the fever, anaemia and hepatitis resolved, and the white blood cell count normalized. After two months, the CMV viral load was negative, and seroconversion was documented. Primary CMV infection is unusual in older patients. Additionally, in IMCh infection is usually mild, and severe infections are rare. In such cases, the use of antiviral therapy is not well established, and risk/benefit must be considered in a personalised approach. Altogether, the clinical and laboratory presentation of this case reinforces the need for high clinical suspicion.</p><p><strong>Learning points: </strong>Cytomegalovirus can have serious, and life-threatening manifestations in immunocompetent hosts and its incidence may be higher than previously thought.Despite its seroprevalence ranging near 100% in the global population, primary infection in the elderly immunocompetent hosts is uncommon, but not impossible.Antiviral treatment is not well established in non-life-threatening disease in immunocompetent hosts, and a personal and individual approach must be considered with risk/benefit consideration.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005071"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kounis Syndrome Following Moxifloxacin and Deflazacort Administration.","authors":"Eugenia Morello, Silvia Bosio, Sibilla Anna Teresa Salvadeo","doi":"10.12890/2024_004971","DOIUrl":"10.12890/2024_004971","url":null,"abstract":"<p><p>Kounis syndrome (KS), characterized by the simultaneous occurrence of acute coronary syndrome (ACS) and allergic reactions, can be triggered by a range of factors and drugs. We report on the case of a patient who arrived at our emergency department (ED) with symptoms of an allergic reaction after taking moxifloxacin and deflazacort orally. In the ED, the patient experienced a 5-minute episode of oppressive chest pain. A 12-lead electrocardiogram (ECG) was registered, and elevated troponin levels were detected in the blood, suggesting myocardial damage. The patient was admitted to the internal medicine department for observation, and a second 12-lead ECG demonstrated a significant variation in the repolarization pattern. The day after, a coronary angiography revealed no significant stenosis, thus supporting, along with elevated serum tryptase levels, the diagnosis of KS. This case report highlights two potential triggers for KS and emphasizes the critical importance of early recognition and prompt treatment of KS.</p><p><strong>Learning points: </strong><i>Kounis syndrome can be triggered by moxifloxacin and/or deflazacort.</i> This case report documents the onset of Kounis syndrome following the administration of moxifloxacin and deflazacort.<i>Diagnosing and treating Kounis syndrome can be challenging.</i> Its diverse triggers and clinical manifestations complicate accurate diagnosis. Effective treatment involves addressing both cardiac and allergic symptoms, with the understanding that medications used for cardiac issues may exacerbate allergic reactions, and vice versa.<i>Nonspecific electrocardiogram (ECG) alterations should not be underestimated.</i> In the context of an allergic reaction, ECG alterations, including nonspecific ones, might be an early warning sign.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"004971"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Movement Disorders that Occurred as Late Manifestations of Alzheimer's Disease Controlled by a Low dose of Carbamazepine.","authors":"Patrick Manckoundia, Jérémie Vovelle, Sylvia Cancemi, Rachid Mahmoudi, Thomas Renoncourt","doi":"10.12890/2024_004943","DOIUrl":"10.12890/2024_004943","url":null,"abstract":"<p><strong>Introduction: </strong>According to the World Health Organization, 44 million people worldwide suffer from Alzheimer's disease. Abnormal movements are atypical symptoms of Alzheimer's disease.</p><p><strong>Case description: </strong>An 87-year-old woman, followed for Alzheimer's disease, experienced abnormal movements. The episodes lasted 30 minutes, were involuntary, uncontrollable, anarchic, predominantly in the upper limbs, and without loss of consciousness or bladder control. An electroencephalogram ruled out atypical epilepsy. Pharmacovigilance investigation ruled out a drug-related cause. Magnetic resonance imaging revealed abnormalities suggestive of Alzheimer's disease, with no other evidence to explain the abnormal movements. Apart from the presence of Alzheimer's disease biomarkers, cerebrospinal fluid analysis found no abnormality. Dopamine transporter scan rule out an atypical parkinsonian syndrome. Finally, abnormal movements associated with Alzheimer's disease were suspected. Abnormal movements disappeared within 72 hours on low-dose carbamazepine.</p><p><strong>Conclusion: </strong>This case is educational both because of the clinical presentation and the management of symptoms.</p><p><strong>Learning points: </strong>The number of people suffering from Alzheimer's disease, the leading cause of major neurocognitive disorders, is expected to reach around 78 million in 2030 and 139 million in 2050.The course of Alzheimer's disease may be punctuated by atypical symptoms, such as abnormal movements.In patients on carbamazepine, we observed a dramatic improvement in abnormal movements associated with Alzheimer's disease.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"004943"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Malakoplakia Associated with Diarrhoea and Colonic Lesions After Rituximab Treatment.","authors":"Yaqoub Alshatti, Meshaan Alenezi","doi":"10.12890/2024_005067","DOIUrl":"10.12890/2024_005067","url":null,"abstract":"<p><p>Malakoplakia is a rare granulomatous condition that occurs due to defective lysosomal digestion during phagocytosis and can mimic inflammatory bowel disease (IBD) or malignancies, particularly in immunosuppressed patients. We report the case of a 62-year-old male with IgG4-related orbitopathy, who developed persistent diarrhoea and colonic lesions 6 weeks after receiving rituximab therapy for nephrotic syndrome secondary to membranoproliferative glomerulonephritis. Colonoscopy revealed pancolitis with mucosal granularity, loss of vascular pattern, and small nodules, raising initial suspicion for IBD. However, histological analysis of colonic biopsies confirmed malakoplakia with the presence of Michaelis-Gutmann bodies, pathognomonic for this condition. The patient was treated with ciprofloxacin for 2 weeks, and steroids were discontinued, leading to complete symptom resolution and significant histological improvement. During follow-up, the number and size of white lesions decreased, and no Michaelis-Gutmann bodies were detected. This case underscores the importance of maintaining a broad differential diagnosis for gastrointestinal lesions in immunosuppressed patients, as misdiagnosis can result in inappropriate escalation of immunosuppressive therapy. Recognizing the characteristic histopathology of malakoplakia and linking it with clinical findings are critical for timely diagnosis and effective management. This report adds to the limited literature on rituximab-associated malakoplakia, highlighting the unique challenges in its diagnosis and treatment.</p><p><strong>Learning points: </strong>Malakoplakia, though rare, should be considered in immunosuppressed patients with atypical gastrointestinal lesions to prevent misdiagnosis as inflammatory bowel disease.Histopathological evidence, such as Michaelis-Gutmann bodies, is essential for diagnosing malakoplakia.Prompt discontinuation of immunosuppressants and targeted antibiotic therapy can lead to clinical and histological resolution.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005067"},"PeriodicalIF":0.0,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hepatic Sinusoidal Obstruction Syndrome (SOS) Associated with Checkpoint Inhibitor Therapy.","authors":"Marianna Litterio, Nicole Marchetti, Francesco Carubbi, Marianna Tudini, Luciano Mutti, Claudio Ferri","doi":"10.12890/2024_004885","DOIUrl":"10.12890/2024_004885","url":null,"abstract":"<p><p>Sinusoidal obstruction syndrome (SOS) is a distinctive and potentially fatal form of hepatic injury that mainly occurs after hematopoietic-stem cell transplantation but also due to many other conditions including drug or toxin exposure. Recently, immune checkpoint inhibitors (ICIs) have revolutionised the treatment of many solid organ malignancies. Furthermore, as their use has become more widespread, rare toxicities have emerged. The difficulty lies in diagnosing these unusual toxicities with an incidence of as low as less than 1% hence defined as SOS. The development of the disease can be rapid and unpredictable. The severe forms of SOS may result in multi-organ dysfunction with a high mortality rate (>80%). We present the case of a patient with metastatic lung adenocarcinoma treated with the ICI pembrolizumab who developed SOS with marked portal hypertension as a rare severe, toxic side effect of immunotherapy. This report highlights the importance of considering SOS in patients who develop liver dysfunction and/or portal hypertension during or after immunotherapy for neoplastic disease. Early identification and severity assessment is crucial in facilitating prompt diagnosis and timely treatment, improving the prognosis of our patients.</p><p><strong>Learning points: </strong>Understand less common side effects of immunotherapy, now used in daily clinical practice.Consider sinusoidal obstruction syndrome (SOS) in patients who develop liver dysfunction and/or portal hypertension during or after immunotherapy for neoplastic disease.Early identification and severity assessment is crucial in facilitating prompt diagnosis and timely treatment, improving the prognosis of patients.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"004885"},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Impact of Aetiology in Adult Hemophagocytic Lymphohistiocytosis: Insights from an Intensive Care Unit Experience.","authors":"Rita Noversa de Sousa, Andreia Sá Lima, Susana Viana, Filipa Guimarães, Marta Pereira, Luís Miguel Afonso","doi":"10.12890/2024_005040","DOIUrl":"10.12890/2024_005040","url":null,"abstract":"<p><strong>Background: </strong>Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome marked by excessive immune activation. It can be triggered by various factors, including infections, malignancies, and autoimmune diseases, making the diagnosis challenging due to its overlap with other severe conditions.</p><p><strong>Case reports: </strong>We discuss two intensive care unit (ICU) cases illustrating the diverse manifestations of HLH and the critical importance of early recognition and treatment. The first case involves natural killer-cell leukaemia, and the second, a suspected viral trigger. Both highlight the necessity of a multidisciplinary approach in diagnosis and management, emphasizing the complexity of HLH in ICU settings.</p><p><strong>Conclusions: </strong>High mortality rates, particularly in malignancy-associated HLH, underscore the importance of tailored treatment strategies based on the underlying aetiology.</p><p><strong>Learning points: </strong>Hemophagocytic lymphohistiocytosis (HLH) in adults can arise from a variety of triggers, including infections and malignancies, each influencing disease progression and prognosis differently. Recognizing these underlying aetiologies is crucial for tailoring management strategies and anticipating clinical outcomes.Due to its life-threatening nature, HLH requires prompt diagnosis and a coordinated, multidisciplinary approach. Early intervention, incorporating immunosuppressive therapies and supportive care, is essential to improve patient outcomes, particularly in intensive care unit settings where disease severity is often pronounced.Utilizing diagnostic tools such as the HScore and HLH-2004 criteria can facilitate early identification of HLH in critically ill patients with unexplained inflammatory symptoms. These tools, along with a high index of suspicion, help distinguish HLH from other hyperinflammatory conditions, enabling timely and appropriate therapeutic interventions.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"11 12","pages":"005040"},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11716303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}