Abreu-Velez Ana Maria, Upegui-Zapata Yulieth A, Valencia-Yepes Carlos A, Upegui-Quiceno Eduardo, Jiménez-Echavarría Alejandra M, Niño-Pulido César D, Smoller Bruce R, Howard Michael S
Georgia Dermatopathology Associates, Atlanta, GA, USA.
PECET Group, Pharmaceutical Sciences, Medical Research Institute, School of Medicine, University of Antioquia, Medellín, Colombia.
Dermatol Pract Concept. 2019 Jul 31;9(3):181-186. doi: 10.5826/dpc.0903a02. eCollection 2019 Jul.
A new variant of endemic pemphigus foliaceus in El Bagre (El Bagre-EPF), Colombia, South America, shares features with Senear-Usher syndrome and occurs in an endemic fashion. Patients affected by El Bagre-EPF have heterogeneous antigenic reactivity not only to the skin but to other organs, including the heart. Here we test for autoantibodies to the areae compositae of the heart (structure consisting of typical desmosomal amalgamated fascia adherens molecules) and evaluate any possible clinical correlation.
A case-control study comparing 45 patients and 45 controls from the endemic area, matched by demographics including age, gender, weight, work activities, and comorbidities, was performed. Direct and indirect immunofluorescence, immunohistochemistry, confocal microscopic studies, and echocardiogram studies were completed.
The main clinical abnormally seen in the El Bagre-EPF patients was left ventricular hypertrophy in 15/45 patients, compared with no such findings in the control population (P < 0.1). Seventy percent of El Bagre-EPF patients and none of the controls displayed polyclonal autoreactivity using different immunoglobulins and complement to the areae compositae of the heart using different methods and antibodies (P < 0.1).
Patients affected by El Bagre-EPF demonstrated autoantibodies to the areae compositae of the heart. This finding was associated with left ventricular hypertrophic cardiomyopathy. The areae compositae may play a role in cell junction tension and the El Bagre-EPF patients' autoantibodies possibly disrupting these junctions and thereby contributing to the left ventricular hypertrophy.
南美洲哥伦比亚埃尔巴格雷地区出现的一种地方性落叶型天疱疮新变体（埃尔巴格雷 - 落叶型天疱疮，El Bagre-EPF），具有与西尼尔 - 厄舍综合征相似的特征，呈地方性流行。受埃尔巴格雷 - 落叶型天疱疮影响的患者不仅对皮肤，而且对包括心脏在内的其他器官具有异质性抗原反应性。在此，我们检测针对心脏复合区（由典型桥粒融合性粘着小带分子组成的结构）的自身抗体，并评估任何可能的临床相关性。
进行了一项病例对照研究，比较了来自流行地区的45例患者和45例对照，根据年龄、性别、体重、工作活动和合并症等人口统计学因素进行匹配。完成了直接和间接免疫荧光、免疫组织化学、共聚焦显微镜研究以及超声心动图研究。
埃尔巴格雷 - 落叶型天疱疮患者中主要的临床异常表现为15/45例患者出现左心室肥厚，而对照组未发现此类情况（P < 0.1）。使用不同的免疫球蛋白和补体，通过不同方法和抗体检测，70%的埃尔巴格雷 - 落叶型天疱疮患者对心脏复合区显示多克隆自身反应性，而对照组无一例显示（P < 0.1）。
受埃尔巴格雷 - 落叶型天疱疮影响的患者表现出针对心脏复合区的自身抗体。这一发现与左心室肥厚型心肌病相关。复合区可能在细胞连接张力中起作用，而埃尔巴格雷 - 落叶型天疱疮患者的自身抗体可能破坏这些连接，从而导致左心室肥厚。
