First Census of Patients with Hereditary Angioedema in the Canary Islands

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.

The Disease Burden of Hereditary Angioedema: Insights from a Survey in French-Canadians from Quebec

“…Thus, a highlight of this study is the high prevalence of HAE nC1-INH participants. A recent HAE patient registry from the Canary Islands, Spain, also reported a higher frequency of HAE nC1-INH (34%) [ 15 ], which illustrates the need for more studies aimed at better defining the HAE nC1-INH population.…”

A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

“…In recent years, the widely use of NGS in the clinical field has significantly contributed to the achievement of early and accurate diagnosis. In this context, we aimed to characterize for the first time the underlying genetic causes of HAE in the Canary Islands, where clinical studies have estimated a prevalence of around 1.90:100,000 ( 23 ). This prevalence is higher than the that reported for overall Spain and is closer to that observed in other European studies, estimated in 2:100,000 ( 53 ).…”

“…Because of the nonspecific signs, HAE remains a poorly recognized clinical entity, resulting in delayed diagnoses and deficient treatment conditions for long periods. In fact, a reported mean diagnosis delay of 7.9 years, ranging from months to 50 years, has been recently exposed in the HAE cases from the Canary Islands ( 23 ). Those patients lacking a diagnosis have an increased risk for morbidities and mortality compared to those that had been diagnosed, especially if attacks affect the airways ( 24 ).…”