Dermendzhiev Svetlan M, Simeonova Radostina, Murdjeva Marianna A
Division of Occupational Diseases and Toxicology, 2nd Department of Internal Medicine, Medical University, Plovdiv, Bulgaria.
Folia Med (Plovdiv). 2012 Jan-Mar;54(1):65-9. doi: 10.2478/v10153-011-0080-z.
Systemic allergic reactions, which include angioedema, are very common in clinical practice. There is great diversity in the etiological factors known to trigger angioedema, and in the pathogenetic mechanisms defining this condition. Beside the broad spectrum of immuno-allergic reactions involved in the angioedemic pathogenesis, this condition is known to also develop on the background of other disorders. These disorders may be of different etiology and have different pathogenesis (either non-immune or immune) but have one common feature referred to as "serological overlap". From research and clinical perspective, it is interesting to explore the combination of some rare neurological diseases, such as myopathies and in particular muscular dystrophies with systemic allergic reactions such as angioedema, urticaria and others. It is known that progressive muscular dystrophies (PMD) are hereditary diseases with different types of inheritance--X-chromosome recessive, X-chromosome dominant, autosomal dominant and others. In some forms, such as Duchenne muscular dystrophy (DMD), an increased expression of perforin in muscle is found which is evidence for involvement of the cellular immune response in the pathogenesis of myopathy. It is in this sense that it is interesting to explore and discuss a clinical case diagnosed as a facioscapulohumeral form of PMD, which also manifests angioedema with urticaria.
We present a 41-year-old male hospitalized in the Division of Occupational Diseases and Allergology at St. George University Hospital in Plovdiv who suffered two incidents of massive angioedema on the face, back and chest, accompanied by an itchy urticarial rash. In 1985, after hospitalization to the Clinic of Neurology, he was diagnosed with PMD of facioscapulohumeral type. The medical history could not reveal any of the most common etiologic factors such as drugs, food, insects and other allergens that may be associated with the systemic allergic reactions. The abnormalities we found (although they are only of specific indices of humoral immunity) give some reasons to assume the hypothesis of possible causation between the primary neurological disorder as a trigger for this kind of allergy.
The reported case demonstrates that in addition to the cellular immunity abnormalities we identified, the abnormalities in some components of humoral immunity should also be taken into consideration. Good knowledge of the allergic factors and the mechanisms of allergic reactions is of paramount importance for an efficacious approach to the problems faced by patients with such rare pathology.
全身性过敏反应，包括血管性水肿，在临床实践中非常常见。已知引发血管性水肿的病因因素以及定义这种病症的发病机制具有很大的多样性。除了参与血管性水肿发病机制的广泛免疫过敏反应外，这种病症也已知在其他疾病的背景下发生。这些疾病可能病因不同且发病机制不同（非免疫性或免疫性），但有一个共同特征称为“血清学重叠”。从研究和临床角度来看，探索一些罕见的神经疾病，如肌病，特别是肌肉营养不良症与全身性过敏反应，如血管性水肿、荨麻疹等的组合是很有趣的。已知进行性肌肉营养不良症（PMD）是具有不同遗传类型的遗传性疾病——X染色体隐性、X染色体显性、常染色体显性等。在某些形式中，如杜兴氏肌肉营养不良症（DMD），发现肌肉中穿孔素的表达增加，这证明细胞免疫反应参与了肌病的发病机制。正是在这个意义上，探索和讨论一例被诊断为面肩肱型PMD且伴有血管性水肿和荨麻疹的临床病例是很有趣的。
我们介绍一位41岁男性，他因面部、背部和胸部出现两次大规模血管性水肿，并伴有瘙痒性荨麻疹皮疹，入住普罗夫迪夫圣乔治大学医院职业病与过敏科。1985年，他在神经科诊所住院后，被诊断为面肩肱型PMD。病史未显示任何可能与全身性过敏反应相关的最常见病因因素，如药物、食物、昆虫和其他过敏原。我们发现的异常情况（尽管它们只是体液免疫的特定指标）为假设原发性神经疾病作为这种过敏反应的触发因素之间可能存在因果关系提供了一些理由。
报告的病例表明，除了我们确定的细胞免疫异常外，体液免疫某些成分的异常也应予以考虑。充分了解过敏因素和过敏反应机制对于有效解决患有这种罕见病症的患者所面临的问题至关重要。
