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Mendoza-Alvarez A, Marcelino-Rodriguez I, Almeida-Quintana L, et al. First Census of Patients with Hereditary Angioedema in the Canary Islands. J Clin Med. 2021;10(20)doi: 10.3390/jcm10204711.
Mendoza-Alvarez, A., Marcelino-Rodriguez, I., Almeida-Quintana, L., Martin-Fernandez, E., Martinez-Beltran, D., Almeida-Sanchez, Z., Cruz-Niesvara, D., Hernández-Santana, G., Garcia-Robaina, J. C., Flores, C., & Callero, A. (2021). First Census of Patients with Hereditary Angioedema in the Canary Islands. Journal of clinical medicine, 10(20), . https://doi.org/10.3390/jcm10204711
Mendoza-Alvarez, Alejandro, et al. "First Census of Patients with Hereditary Angioedema in the Canary Islands." Journal of clinical medicine vol. 10,20 (2021). doi: https://doi.org/10.3390/jcm10204711
Mendoza-Alvarez A, Marcelino-Rodriguez I, Almeida-Quintana L, Martin-Fernandez E, Martinez-Beltran D, Almeida-Sanchez Z, Cruz-Niesvara D, Hernández-Santana G, Garcia-Robaina JC, Flores C, Callero A. First Census of Patients with Hereditary Angioedema in the Canary Islands. J Clin Med. 2021 Oct 14;10(20). doi: 10.3390/jcm10204711. PMID: 34682833; PMCID: PMC8540601.
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J Clin Med. 2021 Oct 14;10(20). doi: 10.3390/jcm10204711.

First Census of Patients with Hereditary Angioedema in the Canary Islands.

Journal of clinical medicine

Alejandro Mendoza-Alvarez, Itahisa Marcelino-Rodriguez, Lourdes Almeida-Quintana, Elena Martin-Fernandez, Dara Martinez-Beltran, Zulay Almeida-Sanchez, David Cruz-Niesvara, Guacimara Hernández-Santana, Jose C Garcia-Robaina, Carlos Flores, Ariel Callero

Affiliations

  1. Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Universidad de La Laguna, 38200 Santa Cruz de Tenerife, Spain.
  2. Allergy Service, Hospital Universitario de Gran Canaria Dr. Negrín, 35010 Las Palmas, Spain.
  3. Allergy Service, Hospital General Dr. Molina Orosa, 35500 Las Palmas, Spain.
  4. Allergy Service, Hospital Universitario Insular-Materno Infantil, 35016 Las Palmas, Spain.
  5. Allergy Service, Hospital General de La Palma, 38713 Santa Cruz de Tenerife, Spain.
  6. Allergy Service, Hospital General de Fuerteventura Virgen de la Peña, 35600 Las Palmas, Spain.
  7. Allergy Service, Hospital Nuestra Señora de Guadalupe, 38010 Santa Cruz de Tenerife, Spain.
  8. Allergy Service, Hospital Universitario Nuestra Señora de Candelaria, Universidad de La Laguna, 38200 Santa Cruz de Tenerife, Spain.
  9. Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain.
  10. CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, 28029 Madrid, Spain.

PMID: 34682833 PMCID: PMC8540601 DOI: 10.3390/jcm10204711

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.

Keywords: C1 esterase inhibitor; clinical diagnosis; descriptive study; diagnosis delay; hereditary angioedema

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