CLINICAL CASE OF HEREDITARY ANGIOEDEMA TYPE I WITH ATYPICAL COURSE IN ELDERLY PATIENT

Abstract

Introduction. The article discusses the issue of diagnostics of Hereditary Angioedema (HAE) Type I and the impact of progress achieved in the diagnosis of this rare disease and the development of treatment methods. Goal – to discuss the difficult diagnosis of HAE and the impact of the progress in the diagnosis of this rare disease. Research materials and methods. The material was a clinical case of HAE in a 70-year-old patient with a diagnosis of HAE using modern diagnostic methods. Clinical сase. We report a clinical case that reflects the features of the course of the disease, the clinical manifestation of HAE at an advanced age and the complicated diagnosis of the disease in a 70-year-old woman. Based on clinical data and the results of the conducted study (significantly reduced levels of the C4 complement component, and significantly reduced concentration and activity of C1-inhibitor), the patient’s condition was consistent with HAE, Type I. After starting treatment following the immunologist’s recommendations, which began in February 2024, the patient’s condition stabilized with instances of edema syndrome occurring 1–2 times per month with mild intensity. Discussion. The most significant obstacle to diagnosing HAE in primary care clinics and emergency units is the low initial suspicion. The clinical manifestations of the disease, whether in the form of skin or submucosal swelling or abdominal pain, are often confused with other conditions, which can significantly delay the diagnosis. In the reported clinical case, it took 2 years to establish the diagnosis. However, a high number of hospitalisations, two surgeries, numerous incorrect and unsubstantiated diagnoses, as well as unnecessary tests and invasive procedures come to the forefront. A particular feature of this clinical case is the late onset of the disease at the age of 70, which is uncommon for HAE. Conclusions. Physicians of various specialties should be aware of hereditary angioedema to ensure early detection and referral of patients to immunologists.