European journal of case reports in internal medicine最新文献

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Unveiling the Deadly Dance of Hypocalcemia and Lactic Acidosis in a 59-Year-Old Woman with B-Cell Lymphoma. 揭开一名 59 岁 B 细胞淋巴瘤女性患者低钙血症和乳酸酸中毒的致命之舞。
European journal of case reports in internal medicine Pub Date : 2024-06-27 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004643
Yasaman Navari, Efosa Bazuaye, Philip J McDonald
{"title":"Unveiling the Deadly Dance of Hypocalcemia and Lactic Acidosis in a 59-Year-Old Woman with B-Cell Lymphoma.","authors":"Yasaman Navari, Efosa Bazuaye, Philip J McDonald","doi":"10.12890/2024_004643","DOIUrl":"10.12890/2024_004643","url":null,"abstract":"<p><p>Calcium plays a crucial role in the heart's electrical conduction system and facilitating the contraction of cardiac muscles. Hypocalcemia can result in electrocardiogram findings such as a prolonged QTC interval and eventually torsade de pointes, which in severe cases can progress to cardiac arrest. In cases of B-cell lymphoma, hypocalcemia may arise from various factors. Tumor infiltration can disrupt calcium homeostasis by affecting the parathyroid glands or bone tissue. Acidosis in the context of B-cell lymphoma can cause significant cardiovascular adverse effects. It will reduce peripheral vascular resistance and cardiac muscle contractility, promote dysrhythmias, and disturb oxygen uptake in the lungs. These combined effects markedly compromise cardiac function, increasing the likelihood of cardiac arrest. These mechanisms necessitate comprehensive management strategies in B-cell lymphoma patients. In this case report we present a case of cardiac arrest in a 59-year-old female woman with hypocalcemia and lactic acidosis secondary to B-cell lymphoma.</p><p><strong>Learning points: </strong>Lactic acidosis in B-cell lymphoma can be multifactorial. Contributing factors include inability of liver lactate clearance, tumor cell metabolism or impaired oxygenation.Patients with B-cell lymphoma may have hypocalcemia secondary to tumor lysis syndrome, paraneoplastic syndrome, or secondary to treatment.These reversible causes should always be considered in cardiac arrest in cancer patients.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141563002","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}
引用次数: 0
Polymyalgia Rheumatica Following Respiratory Syncytial Virus (RSV) Vaccination. 接种呼吸道合胞病毒 (RSV) 疫苗后的多发性风湿痛。
European journal of case reports in internal medicine Pub Date : 2024-06-27 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004636
Mohamad El Labban, Stevan Oluic, Hussein Guleid, Mohamed Hassan, Rawan Diab, Mohamad Ali Rida
{"title":"Polymyalgia Rheumatica Following Respiratory Syncytial Virus (RSV) Vaccination.","authors":"Mohamad El Labban, Stevan Oluic, Hussein Guleid, Mohamed Hassan, Rawan Diab, Mohamad Ali Rida","doi":"10.12890/2024_004636","DOIUrl":"10.12890/2024_004636","url":null,"abstract":"<p><strong>Introduction: </strong>Polymyalgia rheumatica (PMR) is a chronic inflammatory disorder that causes stiffness and pain in the proximal joints, including the shoulders, hips and neck. The exact cause of polymyalgia rheumatica is yet to be fully understood, but research suggests that both genetic and environmental factors may contribute to it. Studies have previously linked the onset and relapse of polymyalgia rheumatica symptoms to the influenza and COVID-19 vaccines. The Food and Drug Administration approved the respiratory syncytial virus (RSV) vaccine, which is a recombinant protein vaccine for adults over 60, in May 2023. No previous reports of polymyalgia rheumatica onset or relapse have been linked to the RSV vaccine. The human proteome shares some peptides with the RSV F antigen, suggesting a high risk of cross-reactivity when using that antigen in vaccination formulations.</p><p><strong>Case description: </strong>A 72-year-old man experienced a new onset of bilateral shoulder pain and stiffness three days after receiving the Abrysvo<sup>®</sup> RSV vaccine. The symptoms lasted more than an hour (up until noon) and interfered with his activities of daily living. Inflammatory markers such as C-reactive protein were elevated. The patient's symptoms and inflammatory marker levels significantly improved with prednisone therapy.</p><p><strong>Conclusion: </strong>In patients with typical PMR symptoms, it is important for clinicians to carefully review immunisation history to rule out any potentially related adverse effects.</p><p><strong>Learning points: </strong>Vaccines can trigger autoimmune diseases in some individuals.This case report suggests respiratory syncytial virus (RSV) vaccine is among the possible triggers for polymyalgia rheumatica.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562974","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}
引用次数: 0
Failure of the PD-1 Blocking Agent Pembrolizumab to Benefit a Patient with Renal Squamous Cell Cancer. PD-1 阻断剂 Pembrolizumab 未能使一名肾鳞状细胞癌患者获益。
European journal of case reports in internal medicine Pub Date : 2024-06-27 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004619
Salman Khan, Ekrem Yetiskul, Georges Khattar, Araji Ghada, Sarah Afif, Malik W Z Khan, Umeesh Manchandani
{"title":"Failure of the PD-1 Blocking Agent Pembrolizumab to Benefit a Patient with Renal Squamous Cell Cancer.","authors":"Salman Khan, Ekrem Yetiskul, Georges Khattar, Araji Ghada, Sarah Afif, Malik W Z Khan, Umeesh Manchandani","doi":"10.12890/2024_004619","DOIUrl":"10.12890/2024_004619","url":null,"abstract":"<p><strong>Introduction: </strong>Renal squamous cell carcinoma (SCC) is a neoplasm with an extremely rare occurrence compared to other renal malignancies. The classic presentation includes a palpable mass and flank pain; however, the presentation is seldom non-specific. Our study describes the significance of programmed death ligand-1 (PD-L1) expression in renal cancer and its association with clinical outcomes, alongside available treatment options.</p><p><strong>Case description: </strong>An 80-year-old female with a history of hypertension and cerebral aneurysm presented with right flank pain and blood in urine and was diagnosed with pyelonephritis and left renal mass/phlegmon. A biopsy revealed SCC of the kidney with metastasis to the lung and aortocaval lymph node. Positron emission tomography (PET) scan confirmed malignancy in the kidney and lung. Treatment with pemrolizumab and carboplatin plus paclitaxel was initiated but poorly tolerated as the haemoglobin dropped rapidly.</p><p><strong>Conclusion: </strong>SCC poses a diagnostic challenge due to its rarity and non-specific symptoms, often leading to advanced stage diagnosis. PD-L1 expression is pivotal in assessing tumour aggressiveness and prognosis. PD-L1 inhibitors offer promise, but their efficacy in renal SCC warrants further investigation. Radical nephrectomy and systemic chemotherapy show potential in advanced cases, necessitating vigilant management of treatment-related side effects. This case emphasises the need for ongoing research to refine therapeutic approaches and enhance outcomes in renal SCC patients.</p><p><strong>Learning points: </strong>PD-L1 expression is pivotal in assessing tumour aggressiveness and prognosis of renal cell carcinoma.PD-L1 inhibitors hold promise as a therapeutic intervention in renal squamous cancer.Radical nephrectomy and systemic chemotherapy show potential in managing advanced renal cancer.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562945","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}
引用次数: 0
Anti-LGI1 Autoimmune Encephalitis in a Patient with Rheumatoid Arthritis and MGUS. 一名类风湿性关节炎和 MGUS 患者的抗 LGI1 自身免疫性脑炎
European journal of case reports in internal medicine Pub Date : 2024-06-18 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004572
Lamprini Bounou, Aimilios Kaklamanos, Theodoros Androutsakos, Elissavet Kemanetzoglou, Ioanna Moustaka, Athanasios Protogerou, Athina Euthimiou
{"title":"Anti-LGI1 Autoimmune Encephalitis in a Patient with Rheumatoid Arthritis and MGUS.","authors":"Lamprini Bounou, Aimilios Kaklamanos, Theodoros Androutsakos, Elissavet Kemanetzoglou, Ioanna Moustaka, Athanasios Protogerou, Athina Euthimiou","doi":"10.12890/2024_004572","DOIUrl":"10.12890/2024_004572","url":null,"abstract":"<p><strong>Background: </strong>Anti-leucine-rich glioma inactivated 1 limbic encephalitis (anti-LGI1 LE) is one of the most frequent autoimmune encephalitis, commonly coexisting with other autoimmune diseases. Rheumatoid arthritis (RA) and monoclonal gammopathy of unknown significance (MGUS) are commonly associated with autoimmune phenomena. However, neither RA nor MGUS have been described in the literature to date as coexisting with anti-LGI1 LE.</p><p><strong>Case description: </strong>We present the case of anti-LGI1 LE in a male patient with rheumatoid arthritis, who was also found to have an MGUS. The patient was initially treated with corticosteroids and IV immunoglobulin. After a mild relapse, his treatment was complemented with rituximab, resulting in complete regression of the disease symptoms.</p><p><strong>Conclusions: </strong>Our report provides evidence for the coexistence of anti-LGI1 LE with RA and/or MGUS, thus extending the differential diagnosis of patients suffering with these disease entities that present with neuropsychiatric symptoms suggestive of encephalitis. Moreover, this case raises challenges on the management of the coexistence of these diseases, given the lack of therapeutic guidelines and their potential interaction on a pathophysiological and a clinical level.</p><p><strong>Learning points: </strong>In a patient with known autoimmune or malignant background who presents with neuropsychiatric symptoms, after excluding infectious encephalitis or central nervous system involvement in the primary disease condition, autoimmune limbic encephalitis (LE) should also be considered.In a patient diagnosed with anti-LGI1 LE there should be an extensive check for coexisting occult pre-malignant conditions, even for months after disease presentation.Clinical management and treatment options of anti-LGI1 LE when coexisting with other autoimmune or pre-malignant conditions can be challenging; thus, more research is needed towards that direction.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229469/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562942","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}
引用次数: 0
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) Initially Presenting as Septic Meningoencephalitis in a 16-Year-Old Male. 一名 16 岁男性最初表现为化脓性脑膜脑炎的髓鞘寡突胶质细胞糖蛋白抗体相关疾病 (MOGAD)。
European journal of case reports in internal medicine Pub Date : 2024-06-11 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004596
Maria Elizabeth Karavassilis, Dmitriy Chernov, Sinda Dakhlia, Paramalingam Saravanan
{"title":"Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) Initially Presenting as Septic Meningoencephalitis in a 16-Year-Old Male.","authors":"Maria Elizabeth Karavassilis, Dmitriy Chernov, Sinda Dakhlia, Paramalingam Saravanan","doi":"10.12890/2024_004596","DOIUrl":"10.12890/2024_004596","url":null,"abstract":"<p><strong>Background: </strong>We describe a case of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) in a 16-year-old patient who initially presented with clinical features of septic meningoencephalitis. This case outlines the importance of considering a diagnosis of MOGAD in patients who fail to improve with appropriate antimicrobial therapy or show a positive clinical response to glucocorticoids (often used in treatment of meningococcal meningitis). We emphasise the importance of recognising that an infectious prodrome can precede MOGAD.</p><p><strong>Case description: </strong>A 16-year-old male was admitted with vomiting, fever, headache, photophobia and altered mental state. He was treated for meningoencephalitis with initial clinical improvement. Lumbar puncture findings were suggestive of viral meningoencephalitis. During admission the patient went through several periods of transient clinical and biochemical improvement, alternating with periods of symptomatic relapse. On day 17 of admission, he was transferred to a tertiary centre for suspected autoimmune disseminated meningoencephalitis (ADEM) and two days later, he suffered a catastrophic neurological decline with new dysarthria, dysphagia, aphasia, horizontal nystagmus and facial paralysis. He made a remarkable neurological recovery after commencing treatment with IV immunoglobulin, IV methylprednisolone and plasma exchange, with complete resolution of symptoms.</p><p><strong>Conclusion: </strong>MOGAD can run a variable course and present soon after a central nervous system infection, making the diagnosis more challenging. Nonetheless, patients can achieve a full neurological recovery with early recognition, diagnosis and treatment of this rare entity.</p><p><strong>Learning points: </strong>Autoimmune encephalitis can be preceded by an infectious prodrome which makes the diagnosis more challenging.Autoimmune encephalitis can run a subacute and fluctuating course with transient periods of symptomatic improvement preceding a rapid neurological decline.Glucocorticoids often used in treatment of patients with meningococcal meningitis may lead to transient symptomatic improvement in patients with autoimmune encephalitis, masking the diagnosis.MRI findings of demyelination in autoimmune encephalitis may lag behind clinical symptoms by days to weeks.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229479/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562970","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}
引用次数: 0
A Case of Polyserositis, Chylous Ascites and Hepatitis Induced by Immune Checkpoint Inhibitors. 一例由免疫检查点抑制剂诱发的多发性浆膜炎、乳糜腹水和肝炎病例
European journal of case reports in internal medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004237
Marta Castelli, Mauro Betelli, Anna Valenti, Barbara Merelli, Alessandro Loglio, Mauro Viganò, Alberto Benetti
{"title":"A Case of Polyserositis, Chylous Ascites and Hepatitis Induced by Immune Checkpoint Inhibitors.","authors":"Marta Castelli, Mauro Betelli, Anna Valenti, Barbara Merelli, Alessandro Loglio, Mauro Viganò, Alberto Benetti","doi":"10.12890/2024_004237","DOIUrl":"10.12890/2024_004237","url":null,"abstract":"<p><p>We describe a rare case of polyserositis with chylous ascites following nivolumab therapy, highlighting the challenges in recognising and managing immune-related adverse events (irAEs) associated with immune checkpoint inhibitors (ICPIs). Induced polyserositis and chylous ascites are very rare and require immunosuppressive treatment, with a variable response of high-dose IV steroids.</p><p><strong>Learning points: </strong>Oncological therapy with immune checkpoint inhibitors (ICPIs) is frequently associated with immune-related adverse events (irAEs) most involving cutaneous, gastrointestinal and pulmonary sites.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229460/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562939","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}
引用次数: 0
Before Symptomatic Internal Carotid Artery Stenoses can be Attributed to Giant Cell Arteritis, Other Causes must be Ruled Out. 在将有症状的颈内动脉狭窄归因于巨细胞动脉炎之前,必须排除其他原因。
European journal of case reports in internal medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004611
Josef Finsterer
{"title":"Before Symptomatic Internal Carotid Artery Stenoses can be Attributed to Giant Cell Arteritis, Other Causes must be Ruled Out.","authors":"Josef Finsterer","doi":"10.12890/2024_004611","DOIUrl":"10.12890/2024_004611","url":null,"abstract":"","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562943","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}
引用次数: 0
Acute Renal Thrombotic Microangiopathy Caused by Eltrombopag and Romiplostim in a Patient with Myelodysplastic Syndromes (MDS) and Underlying Antiphospholipid Syndrome. 骨髓增生异常综合征 (MDS) 和潜在抗磷脂综合征患者因使用 Eltrombopag 和 Romiplostim 而引发的急性肾血栓性微血管病。
European journal of case reports in internal medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004564
Nikhil Sood, Margarita Kushnir, Bindu Jayavelu
{"title":"Acute Renal Thrombotic Microangiopathy Caused by Eltrombopag and Romiplostim in a Patient with Myelodysplastic Syndromes (MDS) and Underlying Antiphospholipid Syndrome.","authors":"Nikhil Sood, Margarita Kushnir, Bindu Jayavelu","doi":"10.12890/2024_004564","DOIUrl":"10.12890/2024_004564","url":null,"abstract":"<p><p>Romiplostim and eltrombopag are synthetic agonists of the thrombopoietin receptor (TPO-R), commonly used for immune thrombocytopenic purpura (ITP) and sometimes in myelodysplastic syndrome (MDS). They are rarely associated with kidney injury. We report a case of acute kidney injury caused by romiplostim and eltrombopag in an 80-year-old male patient with MDS and ITP. He did not have systemic haemolysis syndrome but isolated acute renal thrombotic microangiopathy confirmed by kidney biopsy. He was treated with steroids, plasmapheresis and anticoagulation, with improvement in renal function. Interestingly, the patient had high antiphospholipid (aPL) antibodies noted upon screening, indicating a possible new antiphospholipid syndrome (APS) diagnosis. In the presence of circulating aPL antibodies, eltrombopag may have served as a trigger, causing endothelial injury and subsequent renal microangiopathy; aPL antibodies were still significantly positive at four weeks of outpatient testing. This case and a few others reported in the literature highlight the importance of screening for aPL antibodies before initiating TPO-R agonists in patients with ITP. We suspect that using TPO-R agonists, rather than underlying aPL, caused renal failure.</p><p><strong>Learning points: </strong>Synthetic agonists of the thrombopoietin receptor, such as romiplostim or eltrombopag, can cause acute renal failure.Preexisting antiphospholipid (aPL) antibodies may increase the risk of renal failure.Screening for aPL antibodies should be considered before initiating thrombopoietin-receptor agonists (TPO-R agonists) in patients with immune thrombocytopenic purpura (ITP).</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229473/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562941","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}
引用次数: 0
A Young Female with a Hepatic Epithelioid Hemangioendothelioma. 一名患有肝上皮样血管内皮瘤的年轻女性。
European journal of case reports in internal medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004529
Natalija Jevdokimova, Denis Jevdokimov, Jelena Ivanova, Sergejs Isajevs, Aiga Staka, Aldis Pukitis
{"title":"A Young Female with a Hepatic Epithelioid Hemangioendothelioma.","authors":"Natalija Jevdokimova, Denis Jevdokimov, Jelena Ivanova, Sergejs Isajevs, Aiga Staka, Aldis Pukitis","doi":"10.12890/2024_004529","DOIUrl":"10.12890/2024_004529","url":null,"abstract":"<p><strong>Background: </strong>Primary hepatic epithelioid hemangioendothelioma (HEHE) is an extremely rare tumour of vascular origin with an incidence of <0.1 cases per 100,000 people worldwide.</p><p><strong>Case description: </strong>A 29-year-old female with the history of epigastric pain and unintentional weight loss (3 kg over six months) was referred for upper endoscopy. The examination was without visual pathological findings, but a rapid urease test was positive. First-line treatment with clarithromycin-containing triple therapy for <i>Helicobacter pylori</i> infection was given. After completion of eradication therapy, diffuse abdominal pain developed. An abdominal computed tomography (CT) showed multiple liver nodules. Three consecutive core liver biopsies were performed and were inconclusive. A subsequent surgical liver nodule resection was performed. Histopathology of the specimen revealed grade 2 hepatocellular carcinoma; bone scintigraphy was negative for metastasis. A multidisciplinary team (MDT) recommended giving the patient sorafenib, which was poorly tolerated. The histology was reviewed using immunohistochemistry staining at the request of the oncologist, which showed expression of CD31 and CD34. Based on clinical, morphological and immunohistochemistry findings, a diagnosis of hepatic epithelioid hemangioendothelioma was made. Based on the multidisciplinary team's findings, liver transplantation was indicated as the only curative treatment.</p><p><strong>Conclusion: </strong>Because of the rarity of this disease, combining clinical, radiological and histopathological methods as well as an MDT approach can help to reach the correct final diagnosis. As demonstrated in this clinical case, it is crucial to perform immunohistochemistry of a liver biopsy to confirm a HEHE diagnosis.</p><p><strong>Learning points: </strong>Hepatic epithelioid hemangioendothelioma is a rare vascular tumour that is often misdiagnosed and mismanaged.This case emphasises the critical importance of interdisciplinary teamwork and the use of non-invasive and invasive techniques to achieve a definitive diagnosis.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562940","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}
引用次数: 0
Unmasking a Case of Sitosterolaemia: An Approach for Diagnosis and Management. 揭开睾丸甾醇血症病例的神秘面纱:诊断和管理方法。
European journal of case reports in internal medicine Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.12890/2024_004541
Mostafa Elbanna, Fahad Eid, Mostafa Zaalouk, Ahmed Nawid Latifi, Gaurav Sharma
{"title":"Unmasking a Case of Sitosterolaemia: An Approach for Diagnosis and Management.","authors":"Mostafa Elbanna, Fahad Eid, Mostafa Zaalouk, Ahmed Nawid Latifi, Gaurav Sharma","doi":"10.12890/2024_004541","DOIUrl":"10.12890/2024_004541","url":null,"abstract":"<p><p>This report presents a 57-year-old female with a history of dyslipidaemia, intolerant to statins and currently managed on evolocumab. Despite a healthy lifestyle, lipid panel abnormalities persisted, leading to an investigation that revealed heterozygous mutations in the <i>ABCG8</i> gene, confirming a diagnosis of sitosterolaemia. The patient's unique response to lipid-lowering medications typified this rare disorder, necessitating specialised genetic testing for diagnosis. Management involved dietary modifications and the introduction of ezetimibe, evolocumab and atorvastatin, demonstrating the personalised nature of treatment. The case underscores the importance of considering sitosterolaemia in unexplained lipid abnormalities and highlights the challenges in diagnosis and management. Ongoing research is crucial for refining diagnostic and therapeutic strategies for this clinically significant disorder, emphasising the need for a multidisciplinary approach to patient care.</p><p><strong>Learning points: </strong>Recognise the significance of considering sitosterolaemia in differential diagnosis for unexplained lipid abnormalities.Understand the challenges in diagnosing and managing sitosterolaemia, especially in patients with atypical responses to conventional lipid-lowering therapies.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141562978","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}
引用次数: 0
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