PDF(Pubmed)
Abstract：
UNASSIGNED: Lipodystrophy syndromes are rare diseases that can present with a broad range of symptoms. Delays in diagnosis are common, which in turn, may predispose to the development of severe metabolic complications and end-organ damage. Many patients with lipodystrophy syndromes are only diagnosed after significant metabolic abnormalities arise. Prompt action by clinical teams may improve disease outcomes in lipodystrophy syndromes. The aim of the Rapid Action Plan is to serve as a set of recommendations from experts that can support clinicians with limited experience in lipodystrophy syndromes.
UNASSIGNED: The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy syndromes. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts.
UNASSIGNED: Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy syndromes. The roles of clinical and family history, physical exam, patient and family member photos, routine blood tests, leptin levels, skinfold measurements, imaging studies, and genetic testing are explored. Additional topics such as communicating the diagnosis to the patients/families and patient referrals are covered. A set of recommendations regarding screening and monitoring for metabolic diseases and end-organ abnormalities is presented. Finally, the treatment of lipodystrophy syndromes is reviewed.
UNASSIGNED: The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy syndromes, which may improve outcomes for patients with this rare disease.
UNASSIGNED: The Rapid Action Plan was developed using insights gathered through a series of advisory meetings with clinical experts in lipodystrophy syndromes. A skeleton template was used to facilitate interviews. A consensus document was developed, reviewed, and approved by all experts.
UNASSIGNED: Lipodystrophy is a clinical diagnosis. The Rapid Action Plan discusses tools that can help diagnose lipodystrophy syndromes. The roles of clinical and family history, physical exam, patient and family member photos, routine blood tests, leptin levels, skinfold measurements, imaging studies, and genetic testing are explored. Additional topics such as communicating the diagnosis to the patients/families and patient referrals are covered. A set of recommendations regarding screening and monitoring for metabolic diseases and end-organ abnormalities is presented. Finally, the treatment of lipodystrophy syndromes is reviewed.
UNASSIGNED: The Rapid Action Plan may assist clinical teams with the prompt diagnosis and holistic work-up and management of patients with lipodystrophy syndromes, which may improve outcomes for patients with this rare disease.
摘要：
■脂肪营养不良综合征是罕见的疾病，可以表现出广泛的症状。诊断延迟很常见，反过来，可能会导致严重的代谢并发症和终末器官损伤。许多患有脂肪营养不良综合征的患者仅在出现明显的代谢异常后才被诊断。临床团队的迅速行动可能会改善脂肪营养不良综合征的疾病结局。快速行动计划的目的是作为一组专家的建议，可以支持在脂肪营养不良综合征方面经验有限的临床医生。
快速行动计划是通过与脂肪营养不良综合征临床专家举行的一系列咨询会议收集的见解制定的。使用骨架模板来促进访谈。拟订了一份协商一致文件,reviewed,并得到所有专家的认可。
■脂肪营养不良是一种临床诊断。快速行动计划讨论了可以帮助诊断脂肪营养不良综合征的工具。临床和家族史的作用，体检,患者和家庭成员的照片，血常规检查,瘦素水平,皮褶测量,影像学检查,并探索基因检测。其他主题，如将诊断传达给患者/家属和患者转诊，也包括在内。提出了一系列有关筛查和监测代谢疾病和终末器官异常的建议。最后,综述了脂肪代谢障碍综合征的治疗方法。
快速行动计划可以帮助临床团队及时诊断，全面检查和管理脂肪营养不良综合征患者，这可能会改善这种罕见疾病患者的预后。
快速行动计划是通过与脂肪营养不良综合征临床专家举行的一系列咨询会议收集的见解制定的。使用骨架模板来促进访谈。拟订了一份协商一致文件,reviewed,并得到所有专家的认可。
■脂肪营养不良是一种临床诊断。快速行动计划讨论了可以帮助诊断脂肪营养不良综合征的工具。临床和家族史的作用，体检,患者和家庭成员的照片，血常规检查,瘦素水平,皮褶测量,影像学检查,并探索基因检测。其他主题，如将诊断传达给患者/家属和患者转诊，也包括在内。提出了一系列有关筛查和监测代谢疾病和终末器官异常的建议。最后,综述了脂肪代谢障碍综合征的治疗方法。
快速行动计划可以帮助临床团队及时诊断，全面检查和管理脂肪营养不良综合征患者，这可能会改善这种罕见疾病患者的预后。
