{"title":"揭开睾丸甾醇血症病例的神秘面纱:诊断和管理方法。","authors":"Mostafa Elbanna, Fahad Eid, Mostafa Zaalouk, Ahmed Nawid Latifi, Gaurav Sharma","doi":"10.12890/2024_004541","DOIUrl":null,"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":0.0000,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229474/pdf/","citationCount":"0","resultStr":"{\"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\":null,\"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\":0.0000,\"publicationDate\":\"2024-05-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11229474/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of case reports in internal medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12890/2024_004541\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of case reports in internal medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12890/2024_004541","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Unmasking a Case of Sitosterolaemia: An Approach for Diagnosis and Management.
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 ABCG8 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.
Learning points: 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.
期刊介绍:
The European Journal of Case Reports in Internal Medicine is an official journal of the European Federation of Internal Medicine (EFIM), representing 35 national societies from 33 European countries. The Journal''s mission is to promote the best medical practice and innovation in the field of acute and general medicine. It also provides a forum for internal medicine doctors where they can share new approaches with the aim of improving diagnostic and clinical skills in this field. EJCRIM welcomes high-quality case reports describing unusual or complex cases that an internist may encounter in everyday practice. The cases should either demonstrate the appropriateness of a diagnostic/therapeutic approach, describe a new procedure or maneuver, or show unusual manifestations of a disease or unexpected reactions. The Journal only accepts and publishes those case reports whose learning points provide new insight and/or contribute to advancing medical knowledge both in terms of diagnostics and therapeutic approaches. Case reports of medical errors, therefore, are also welcome as long as they provide innovative measures on how to prevent them in the current practice (Instructive Errors). The Journal may also consider brief and reasoned reports on issues relevant to the practice of Internal Medicine, as well as Abstracts submitted to the scientific meetings of acknowledged medical societies.