Abstract
Hereditary angioedema (HAE) is a rare genetic condition whose main symptoms are recurrent swelling in the skin, mucosa, and internal organs. Recent studies suggested that the regulation of the inflammatory response and the complement cascade are two of the pathways significantly enriched in the Canary Islands, Spain. Here, we describe the first HAE patient series in this region. Forty-one patients (33 F, 8 M) and nine healthy relatives belonging to twenty-nine families were recruited for this study, obtaining their clinical and demographic features using a data collection form, as well as blood samples for biochemical analysis. The mean age of patients was 36.8 years (ranging from 4 to 72 years). Positive family history of HAE was reported in 13 patients (32.5%), and a mean diagnosis delay of 7.9 (±12.5) years was estimated, ranging from months to 50 years. Cutaneous edema was the most common symptom (53.6%), while airway symptoms was present in 11 patients. Prophylactic treatment was indicated for 23 patients, while 14 also require on-demand rescue treatment. We estimate a minimum prevalence of 1.25:100,000 for HAE due to C1-INH deficiency or dysfunction in the Canary Islands, which is higher than the estimates for mainland Spanish populations. HAE continues to be a disease poorly recognized by health care professionals due to its confusing symptoms, leading to longer diagnosis delay. Altogether, the evidence reinforces the need for a rapid and accurate diagnosis and precision medicine-based studies to improve the patient’s quality of life.
Highlights
Hereditary angioedema (HAE) is a rare genetic disease whose symptoms are recurrent swelling affecting the skin, internal organs, mucosa or the upper airways [1,2]
According to C1q and anti-C1q autoantibodies, we only detected one patient with C1q deficiency, and that patient was excluded from the current study as it was deemed to be a acquired angioedema (AAE) diagnosis
All types of HAE are present in the series, being HAE-C1INH the most abundant, with twenty-two individuals diagnosed for HAE Type I (53.7%) and five patients for HAE Type II (12.2%)
Summary
Hereditary angioedema (HAE) is a rare genetic disease whose symptoms are recurrent swelling (edema) affecting the skin, internal organs, mucosa or the upper airways [1,2]. The symptoms are caused by dysfunction of the C1 esterase inhibitor (C1-INH) or dysregulation of the kinin cascade, leading to bradykinin release and resulting in HAE attacks. Bradykinin is a vasoactive peptide and the main activator of the B2R receptor located in endothelial cells [3], whose activation leads to increased vascular permeability and edema, causing the HAE symptoms [4]. HAE attacks can turn into a life-threatening episode if the edema develops in the laryngeal tract, which leads to the obstruction of the upper respiratory airways [5]. Its prevalence has been estimated over 1:50,000 worldwide [10] and is reported in all ethnic groups [11]
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