Baqué Muriel, Colineaux Hélène, Dreyfus Isabelle, Mesthé Pierre, Mazereeuw-Hautier Juliette
Toulouse University Hospital, Department of Dermatology, 31059 Toulouse cedex 09, France.
Toulouse University 11 Hospital, Department of Epidemiology, Health Economics and Public Health, 31000 Toulouse, France.
Presse Med. 2019 Dec;48(12):e382-e388. doi: 10.1016/j.lpm.2019.09.061. Epub 2019 Nov 19.
Rare diseases are defined by a prevalence of less than one out of 2000 persons. In clinical practice, their management is difficult, due to their diversity, their complexity and a lack of adapted physician training.
The aims of this study were to identify rare skin diseases in a reference center, to describe the difficulties encountered by general practitioners (GPs) in management of these uncommon cases, and to pinpoint the characteristics of the GPs having the most problems.
A survey conducted from March to June 2017 involving GPs at least one of whose rare skin disease patients was being monitored in a reference center.
All in all, 96/195 (49.2%) of the GPs contacted completed the questionnaire, and virtually all of them (95%) reported five main categories of difficulties: giving a diagnosis, monitoring treatment, coordinating care, providing support, and ensuring management of intercurrent pathologies. The most widely reported difficulties were related to diagnosis (88.5%) and care coordination (76%). The GPs most in need of assistance were those practicing in rural areas (11 times more likely to experience difficulties), those with over 10 years of experience (up to 9.8 times more risk) and those not considering their role in the management of patients with rare diseases as instrumental (2.28 times more risk).
This study brought to light the difficulties encountered by GPs in management of patients with rare skin diseases. We identified those the most in need of assistance, who are to be targeted for actions aimed at improving the care and treatment of patients suffering from rare skin diseases.
罕见病的定义为患病率低于两千分之一。在临床实践中，由于其多样性、复杂性以及缺乏适应性的医生培训，对罕见病的管理颇具难度。
本研究旨在识别一家参考中心的罕见皮肤病，描述全科医生（GP）在管理这些罕见病例时遇到的困难，并确定问题最多的全科医生的特征。
2017年3月至6月进行了一项调查，涉及至少有一名罕见皮肤病患者在参考中心接受监测的全科医生。
总共，96/195（49.2%）名被联系的全科医生完成了问卷，几乎所有人（95%）报告了五类主要困难：做出诊断、监测治疗、协调护理、提供支持以及确保并发疾病的管理。报告最多的困难与诊断（88.5%）和护理协调（76%）有关。最需要帮助的全科医生是那些在农村地区执业的医生（遇到困难的可能性高出11倍）、有超过10年经验的医生（风险高达9.8倍）以及那些不认为自己在罕见病患者管理中的作用至关重要的医生（风险高出2.28倍）。
本研究揭示了全科医生在管理罕见皮肤病患者时遇到的困难。我们确定了最需要帮助的人群，针对他们采取行动以改善罕见皮肤病患者的护理和治疗。
