Familial spontaneous pneumothorax

We read the very interesting paper ‘Pneumothorax’ by M. H. Baumann and M. Noppen. 1 We found the guidelines about the treatment of pneumothorax very helpful, however, we did not find any reference to familial spontaneous pneumothorax (FSP). Familial spontaneous pneumothorax is a rare entity. A genetic basis has been suggested but the actual mode of inheritance is still unknown. Abolnick et al . postulated two modes of inheritance: (i) autosomal dominant with incomplete penetrance (35% in females and 50% in males) and (ii) X-linked recessive inheritance. 2 Relationship between the HLA halotype A2B40, the alpha 1-antitrypsin phenotype deficiency and the occurrence of FSP have been proposed but there is insufficent evidence to support this relationship. In the last 3 years we have treated three female members of one family, from three different generations, for multiple episodes of pneumothorax. A male family member has also been treated in a different hospital. Therefore, four of 16 members of this family have presented with one or more episodes of spontaneous pneumothorax. Our first patient was a 74-year-old woman who had experienced four episodes of pneumothorax. The second patient was her 59-year-old daughter, who had a history of two pneumothoraces. On presentation, both were treated with chest tube insertion but not surgical pleurodesis. The third patient was the daughter of the second patient and presented with four episodes of pneumothorax. She underwent videoassisted thoracoscopic pleurodesis and removal of the apical part of the upper lobe. The fourth patient is the only affected male member and was not treated in our hospital. He was 20 years old at the time of pneumothorax presentation. Due to persistent air leak, an open surgical pleurodesis was performed 5 days after chest tube insertion. He is currently 32 years old without record of recurrence. Laboratory tests could only be done on three of the four individuals. We did not find alpha 1antitrypsin deficiency or HLAA2B40, in agreement with other studies. 3,4 Although we found HLAB27 in the three individuals, we can not relate this to the occurrence of FSP because we could not examine the fourth affected individual and the other family members. Recurrence rate was high in our patients (individual 1, four episodes; individual 2, two episodes; individual 3, four episodes; individual 4 was operated on after the first episode due to persistent air leak). Different studies have also found a high recurrence rate especially in patients with autosomal dominant FSP. 2–4 Our cases strongly support this observation. Bearing this in mind and referring to the indications for surgical intervention for first-episode spontaneous pneumothorax, we would suggest that firstepisode FSP should be considered an indication for surgical intervention, especially with the advent of video-assisted thoracoscopic surgery procedure, which simplifies the therapeutic approach.