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INTRODUCTION: 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 defi ning 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.
CASE PRESENTATION: 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 specifi c 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.
CONCLUSION: The reported case demonstrates that in addition to the cellular immunity abnormalities we identifi ed, 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 effi cacious approach to the problems faced by patients with such rare pathology.