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Abstract：
BACKGROUND: Lipodystrophy syndromes are a heterogeneous group of rare, life-limiting diseases characterized by a selective loss of adipose tissue and severe metabolic complications. There is a paucity of information describing the experiences and challenges faced by physicians who have seen and treated patients with lipodystrophy. This study aimed to provide a better understanding of the physician\'s perspective regarding the patient journey in lipodystrophy, including diagnosis, the burden of disease, and treatment approaches.
METHODS: Thirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or \'triggers\' that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use.
RESULTS: Participants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use.
CONCLUSIONS: To our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease.
METHODS: Thirty-three physicians from six countries who had seen or treated patients with lipodystrophy were interviewed using a semi-structured questionnaire. Interviews were transcribed, anonymized, and analyzed for themes and trends. Four main themes were developed: (1) the diagnostic journey in lipodystrophy including the disease features or \'triggers\' that result in the onward referral of patients to specialist medical centers with experience in managing lipodystrophy; (2) the impact of lipodystrophy on patient quality of life (QoL); (3) the use of standard therapies and leptin replacement therapy (metreleptin) in lipodystrophy, and (4) barriers to metreleptin use.
RESULTS: Participants reported that, due to their rarity and phenotypic heterogeneity, lipodystrophy cases are frequently unrecognized, leading to delays in diagnosis and medical intervention. Early consultation with multidisciplinary specialist medical teams was recommended for suspected lipodystrophy cases. The development and progression of metabolic complications were identified as key triggers for the referral of patients to specialist centers for follow-up care. Participants emphasized the impact of lipodystrophy on patient QoL, including effects on mental health and self-image. Although participants routinely used standard medical therapies to treat specific metabolic complications associated with lipodystrophy, it was acknowledged that metreleptin was typically required in patients with congenital generalized lipodystrophy and in some acquired generalized and partial lipodystrophy cases. A lack of experience among some participants and restrictions to access remained as barriers to metreleptin use.
CONCLUSIONS: To our knowledge, this is one of the first studies describing the qualitative experiences of physicians regarding the diagnosis and management of lipodystrophy. Other physician-centered studies may help increase the awareness of lipodystrophy among the wider medical community and support clinical approaches to this rare disease.
摘要：
背景：脂肪营养不良综合征是一组罕见的异质性，以脂肪组织选择性丢失和严重代谢并发症为特征的生命限制疾病。很少有信息描述已经看过和治疗过脂肪营养不良患者的医生所面临的经验和挑战。这项研究的目的是提供一个更好的了解医生的观点关于病人的旅程在脂肪营养不良，包括诊断,疾病的负担，和治疗方法。
方法：使用半结构化问卷对来自六个国家/地区的33名医生进行了访谈，这些医生曾看过或治疗过脂肪营养不良患者。采访被转录，匿名,并分析了主题和趋势。开发了四个主要主题：（1）脂肪营养不良的诊断旅程，包括疾病特征或“触发因素”，导致患者继续转诊至具有管理脂肪营养不良经验的专科医学中心；（2）脂肪营养不良对患者生活质量（QoL）的影响；（3）在脂肪营养不良中使用标准疗法和瘦素替代疗法（metreleptin），(4)使用metreleptin的障碍。
结果：参与者报告说，由于它们的稀有性和表型异质性，脂肪营养不良病例经常无法识别，导致诊断和医疗干预的延误。对于可疑的脂肪营养不良病例，建议尽早咨询多学科专家医疗团队。代谢并发症的发展和进展被确定为将患者转诊到专科中心进行后续护理的关键触发因素。参与者强调了脂肪营养不良对患者QoL的影响，包括对心理健康和自我形象的影响。尽管参与者通常使用标准药物治疗来治疗与脂肪营养不良相关的特定代谢并发症，人们承认,先天性全身性脂肪营养不良患者和一些获得性全身性和部分性脂肪营养不良患者通常需要metreleptin.一些参与者缺乏经验和访问限制仍然是使用metreleptin的障碍。
结论：据我们所知，这是首批描述医生在脂肪营养不良的诊断和治疗方面的定性经验的研究之一.其他以医生为中心的研究可能有助于提高更广泛的医学界对脂肪营养不良的认识，并支持这种罕见疾病的临床方法。
方法：使用半结构化问卷对来自六个国家/地区的33名医生进行了访谈，这些医生曾看过或治疗过脂肪营养不良患者。采访被转录，匿名,并分析了主题和趋势。开发了四个主要主题：（1）脂肪营养不良的诊断旅程，包括疾病特征或“触发因素”，导致患者继续转诊至具有管理脂肪营养不良经验的专科医学中心；（2）脂肪营养不良对患者生活质量（QoL）的影响；（3）在脂肪营养不良中使用标准疗法和瘦素替代疗法（metreleptin），(4)使用metreleptin的障碍。
结果：参与者报告说，由于它们的稀有性和表型异质性，脂肪营养不良病例经常无法识别，导致诊断和医疗干预的延误。对于可疑的脂肪营养不良病例，建议尽早咨询多学科专家医疗团队。代谢并发症的发展和进展被确定为将患者转诊到专科中心进行后续护理的关键触发因素。参与者强调了脂肪营养不良对患者QoL的影响，包括对心理健康和自我形象的影响。尽管参与者通常使用标准药物治疗来治疗与脂肪营养不良相关的特定代谢并发症，人们承认,先天性全身性脂肪营养不良患者和一些获得性全身性和部分性脂肪营养不良患者通常需要metreleptin.一些参与者缺乏经验和访问限制仍然是使用metreleptin的障碍。
结论：据我们所知，这是首批描述医生在脂肪营养不良的诊断和治疗方面的定性经验的研究之一.其他以医生为中心的研究可能有助于提高更广泛的医学界对脂肪营养不良的认识，并支持这种罕见疾病的临床方法。
