HLA San Carlos is a pioneer in the Valencian Community in the detection of a rare disease with the use of a buccal test. With this test you can diagnose the deficiency of alpha 1 antitrypsin (DAAT), a rare condition that can cause lung and liver damage, among other complications. As explained from the hospital, at the national level it is estimated that 12.000 people suffer from it, but in the registry they only consist around 500
Alpha 1 anti-trypsin (DAAT) deficiency
The deficiency of alpha 1 anti-trypsin (DAAT) is a genetic disease that is transmitted from parents to children and goes unnoticed in most carriers of deficient genes because they have no symptoms and, when they do, the severity of the They will depend on the vulnerability of each patient.
As explained by Dr. Rosaly Moreno, specialist in pulmonology at the HLA San Carlos hospital: "It derives from a genetic mutation and can cause lung, liver and even inflammatory diseases, affect other organs."
HLA, pioneer in the Valencian Community
The HLA of Denia is a pioneer in the Valencian Community in the implementation of an oral test for the genetic screening of DAAT. It is quick and painless and is performed on an outpatient basis, the results would be available in a shorter period than the 2-3 weeks.
In our country it is estimated that around 12.000 people suffer from it, but in the national registry, from 1993, there are only a few more 500 patients. Young patients and smoking patients are more sensitive to developing symptoms, such as fatigue and cough, so they have a tendency to worsen their lung function.
Early detection allows the implementation of genetic counseling, which consists of a communicative process to educate and support people and their families who have a genetic disease or risk of suffering it, check relatives of the affected patient and, if necessary , the beginning of treatments that reduce the possibility of dying and prevent the loss of lung function.
According to Dr. Moreno: "Those patients with a previous diagnosis of asthma, chronic bronchitis, bronchiectasis, smokers or patients with a family history of respiratory diseases are the ones with the highest risk of suffering from it."
Contact Hospital San Carlos Grupo HLA
| Nancy Street, 3-5 View in Google Maps | |
| (966) 470 162 | |
| Only by appointment: 965 17 47 37 | |
| Appointment by Whatsapp: 679144005 | |
| From Monday to Friday from 9 a.m. to 20 p.m. Saturday and Sunday from 10 a.m. to 14 p.m. (General medicine and nursing). Emergencies in Hospital San Carlos Dénia. | |
| grupohla.com | |
| hospitalsancarlos.es | |
| HLAGHospital Group | |
| "Salud" |
