The Pneumology Service of the Hospital Regional Universitario de Málaga has detected the first case of familial idiopathic tracheal subglottic stenosis described in Spain, by identifying this narrowing of the airway in three related women.
It is a pathology whose cause may be caused by infections, prolonged intubation, trauma or systemic inflammatory diseases. However, a small number of cases are of unknown origin.
This disease consists of a narrowing of the laryngeal lumen at the level of the cricoid cartilage. This is the most inferior of the laryngeal cartilages and lies between the cricoid cartilage and the first tracheal rings. Idiopathic subglottic stenosis is more frequent in women around 20-50 years of age and the familial predisposition for this entity is unknown, with few cases reported in the literature, the Board has indicated in a statement.
In this sense, the head of the Pneumology service, Antonio Dorado, has indicated that its detection originated from the identification of this pathology in a 55-year-old patient with no relevant surgical medical history, referred due to dyspnea –respiratory difficulty. — with minimal effort and without symptoms of gastroesophageal disease.
The CT scan of the neck revealed a 4.50-mm tracheal stenosis. Respiratory function tests were then performed, in which fixed airflow obstruction morphology was observed, and conventional bronchoscopy was also performed, in which subglottic stenosis was visualized.
In the second case, three years later, another patient was seen, the sister of the previous one, 53 years old and, like the other patient, with no medical and surgical history and referred for symptoms of dyspnea on moderate exertion for 2 years. Similarly, in the tests carried out, a 6-mm tracheal stenosis was observed; with the same respiratory function tests, and subglottic stenosis was also observed.
In the third case, the 39-year-old daughter of one of them, referred due to symptoms of dyspnea on minimal exertion of one year of evolution, after the pertinent tests, was detected with a 5.56-mm tracheal stenosis; with the same respiratory function tests and with subglottic stenosis.
“Idiopathic subglottic stenosis is a rare disease, with an unknown incidence. The origin of said stenosis is still unknown, although several studies have been carried out on the action of estrogens in the development pathway of this disease, but without finding There is evidence to support it, as is the case with gastroesophageal reflux, where some authors observed clinical improvement in these patients after starting antireflux treatment. Even so, our series did not present reflux symptoms”, indicated Dorado.
The three patients were treated by the Bronchoscopy team of the Hospital Regional Universitario de Málaga. In the first case, the most complex, after balloon tracheopneumoplasty with partial improvement but with recurrence, she was operated on by Thoracic Surgery and sent to the Tracheal Surgery Unit of the Virgen del Rocío University Hospital in Seville.
In the second, the patient has been followed up and, in the third, endoscopic treatment with balloon tracheopneumoplasty was decided with clinical improvement and satisfactory subsequent follow-up.
“Conventional treatment includes endoscopic measures, such as resection by thermal ablation –broncholaser, electroblade, etc.–) or balloon tracheopneumoplasty, but it presents a high recurrence rate, around 87% at five years, so the An alternative would be surgery, which is more invasive, but with a lower recurrence rate, around 10-40% at 8 years,” added pulmonologist Francisco Páez.
Together with doctors Antonio Dorado and Francisco Páez, the pulmonologist Esperanza Salcedo has participated in the study, who, after reviewing the medical literature in Spanish, detects that it is the “first case of familial idiopathic subglottic stenosis described in Spain, since the few cases that exist in the literature, even in twin sisters, have been reported internationally”.
“All these cases open the door to a possible genetic predisposition for the development of this idiopathic stenosis in adulthood, which could be a working hypothesis in future research,” he added. The study and detection of this case has been published in the Elsevier journal ‘Clinical Medicine’.
