A 52-year-old female patient has been suffering from recurrent infections for years and requires recurrent antibiotics. No other diseases are present. The reason was alpha-1 antitrypsin deficiency. Bronchiectasis can lead on its trail, as illustrated by an unusual case report.
In the physician’s letters that the patient presented to Professor Dr. Felix Herth of the Thorax Clinic at Heidelberg University Hospital (D) at her initial presentation, “pneumonia” was noted several times without the woman having radiographs with her [1]. However, she herself stated that she had always suffered from “weak lungs.”
At this time, the pulmonologist was able to detect coarse bubble RGs on the left>right side in the normal weight woman (56 kg at 164 cm height), but otherwise there were no abnormalities in the KU. In the doctor’s letters brought in, pneumococcus was occasionally noted in the sputum, sometimes hemophilus, but never pseudomonas. The pulmonary function test ordered by Prof. Herth also showed nothing abnormal apart from a slight obstruction. DLCO/VA was 89%, FeNO 9 ppb. CRP determination was 5 mg/dl, IgE 11 U/ml, and eosinophils 70/nl. Nor did the X-ray help, in which there was nothing dramatic to be seen.
Do not trust the radiologist too much
Prof. Herth then sent the patient for HR-CT. Here they finally found what they were looking for: The lady had bronchiectasis. The x-rays taken had apparently not shown any signs of this, which is why the colleagues had not yet thought of this possibility and no secretolytic programs or physiotherapeutic exercises had been initiated.
With regard to radiation, the expert gave the all-clear: In his experience, the new low-dose thin-slice CTs now have such a low radiation load that there is no need to fear any negative effects for patients. On the other hand, he finds the role of radiology colleagues somewhat problematic: “They have to be kept in check. If a radiologist sees a small dilatation of half a millimeter in the bronchial tubes, you already get a radiological report that says bronchiectasis. But the findings only count if the patients also have a corresponding clinic.” Prof. Herth therefore referred to the ERS guideline on bronchiectasis, which explicitly states not to rely solely on radiological findings. (Box).
Alpha-1 antitrypsin deficiency rather rare
Alpha-1 antitrypsin deficiency, which is one of the congenital defects, is rather rare in this ranking. In Heidelberg, however, every new patient with an obstruction is now examined in this regard, “because we see time and again that we still find this alpha-1 antitrypsin deficiency even in patients who have been referred to us for endoscopic lung volume reduction, for example, because it was overlooked.” Prof. Herth’s patient had an AAT value of 0.3 g/l and has the genotype ZZ after genotyping.
Stabilize patients with substitution therapy well
For the treatment of bronchiectasis, the ERS focuses its guideline on the use of short- or long-acting bronchodilators, mucolytics, physical therapy, airway clearence, and antibiotics to be inhaled if necessary. However, alpha-1 antitrypsin substitution is also possible. Prof. Herth pointed out that there is a substance on the market that no longer has the FEV1 limitation, so you can use it even if the FEV1 is not below 50. In terms of approvals, this also allows for the administration, which was not possible 10 years ago.
In the case of the patient from his case study, the expert has been using substitution therapy since 2016. “When people ask me about randomized-controlled trials for bronchiectasis without significant bronchoobstruction and the value of alpha-1 substitution therapy for this, of course I have little argument,” he acknowledged. “But I have the principle of action and I have the principle of alpha-1 antitrypsin deficiency as a chronic inflammatory disease that just also causes changes in the lungs, so we decided to do the substitution therapy.”
Number of exacerbations could be reduced
Nevertheless, the success seems to prove the Heidelberg pulmonologists right: The number of exacerbations requiring antibiotics was reduced from 5 in 2015 to none in 2019. There was one in 2018 and one in 2020 (the last not related to COVID-19). “We therefore believe that we have been able to significantly reduce the exacerbation frequency in this way with the therapy.” Since 2019, the patient has been giving herself the infusions, which of course has a great advantage in the pandemic. Except for physiotherapy, she receives no further treatment and is very satisfied, Prof. Herth concluded this somewhat unusual alpha-1 antitrypsin case, which shows that obstruction does not always point in the right direction. This time it was bronchiectasis that set the doctors on the right track.
Seminar supported by CSL Behring and GSK.
Sources:
- StreamedUp: PneumoLive – Interactive Case Seminar, 10/27/2020.
- Rademacher J, et al: Etiology of bronchiectasis in Germany results from PROGNOSIS. Pneumology 2017; 71: V458.
InFo PNEUMOLOGY & ALLERGOLOGY 2021; 3(1): 30-31.
