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HLA San Carlos pioneer in the use of a buccal test to rule out a rare disease in the Valencian Community

07 June 2019 - 09: 38

The deficiency of alpha 1 anti-trypsin (DAAT) is a rare genetic disease that is transmitted from parents to children. This disease goes unnoticed in most carriers of deficient genes because they have no symptoms and, when they do, the severity of them will depend on the vulnerability of each patient. "Derived from a genetic mutation and can cause lung, liver and even, in inflammatory diseases, affect other organs", argues Dr. Rosaly Moreno, specialist in pulmonology at the hospital HLA San Carlos.

The HLA of Dénia is a pioneer in the Valencian Community in the implementation of an oral test for the genetic screening of DAAT. It is a test, quick and painless and performed on an outpatient basis, the results would be available in a period less than 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.

"Those patients with a previous diagnosis of asthma, chronic bronchitis, bronchiectasis, smokers or patients with a family history of respiratory diseases are the ones most at risk of suffering from it."Says Dr. Moreno.

Contact Hospital San Carlos Grupo HLA

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