Recurrent Pneumothorax Research Articles

Lymphangioleiomyomatosis: A Review.

Lymphangioleiomyomatosis is a rare multisystem disorder belonging to the family of neoplasms exhibiting perivascular epithelioid differentiation. It primarily affects women of childbearing age. The disease is characterized by a proliferation of smooth muscle-like cells (lymphangioleiomyomatosis cells) within all lung compartments, leading to cystic parenchymal destruction and, in some cases, respiratory failure. These cells carry mutations in one or both tuberous sclerosis (TSC) genes and coexpress smooth muscle and melanocytic markers. Female hormones, particularly estrogens, influence the course of the disease. Symptoms of lymphangioleiomyomatosis vary significantly among patients, ranging from exertional dyspnea and coughing to chest pain and recurrent pneumothorax. To present the latest advancements in the understanding of disease pathogenesis and diagnosis, illustrate the pathologic and radiologic findings, provide a reference for pathologists and other health care professionals, briefly discuss recent evidence-based therapeutic approaches, and emphasize the importance of adopting a multidisciplinary approach to diagnosis and optimization of patient care. A comprehensive review of pertinent medical literature published in the last 30 years, focusing on publications written in the English language, was performed. Despite the recent significant advancements in the understanding and management of lymphangioleiomyomatosis, there are still significant gaps in our knowledge of its pathophysiology and the role of the immune system in the genesis and progression of the disease. The current changes in diagnostic algorithms favor the adoption of minimally invasive procedures as the standard of care. As a result, the clinical laboratory will play a larger role in the diagnosis of lymphangioleiomyomatosis, and surgical pathologists will likely be less involved in the diagnosis of pulmonary lymphangioleiomyomatosis than they currently are.

Utilizing the lymphocyte-monocyte ratio in predicting the recurrence of spontaneous pneumothorax

Utilizing the lymphocyte-monocyte ratio in predicting the recurrence of spontaneous pneumothorax

A bizarre case of recurrent hemoptysis and pneumothorax in a young male

Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited disorder affecting approximately 1 in 150,000 individuals, caused by heterozygous mutations in the COL3A1 gene. Characterized by primary spontaneous pneumothorax and severe connective tissue fragility, vEDS remains poorly understood clinically, making diagnosis challenging. We present the case of a 20-year-old male with a history of mitral valve prolapse, recurrent hemoptysis, knee joint dislocations, and easy bruising. In February 2023, he was admitted to the emergency department following a seizure, syncope, and altered sensorium, which led to an extensive evaluation of his non-specific symptoms. Ultimately, he was diagnosed with vEDS.

A Rare Type of Pneumothorax Recurrence After Surgery, Caused by a Lung Laceration Next to the Adhesion

A Rare Type of Pneumothorax Recurrence After Surgery, Caused by a Lung Laceration Next to the Adhesion

Treatment Strategy for Catamenial and Endometriosis-Related Recurrent Spontaneous Pneumothorax

RELEVANCE. The problem of treating thoracic endometriosis complicated by recurrent spontaneous catamenial pneumothorax is associated with the widespread prevalence of endometriosis, the complexity of its treatment and unsatisfactory long-term outcomes. The diagnosis of catamenial pneumothorax can only be established with a carefully collected history and confirmation of its recurrent nature. Favorable results are achieved with complex therapy carried out by the thoracic surgeon and gynecologist, consisting of an adequate volume of surgical intervention and hormonal therapy with gonadotropin releasing hormone agonists.AIM OF STUDY. To improve the diagnosis of thoracic endometriosis and recurrent catamenial and endometriosis-related spontaneous pneumothorax. To optimize the currently available treatment tactics by reducing the incidence of early relapses of catamenial pneumothorax and creating favorable conditions for the formation of reliable pleurodesis.MATERIAL AND METHODS. We studied the immediate outcomes of complex treatment of 30 patients (14.7%) with right-sided recurrent catamenial (28) and endometriosis-related spontaneous pneumothorax (2), with a median age of 41 (37;44) years, for the period from 2011 to the first half of 2023. Surgical treatment via video-assisted thoracoscopic access was performed in 26 patients (86.7%). After surgery, all the patients were recommended a six-month course of hormonal therapy with gonadotropin releasing hormone agonists.RESULTS. Various types of mechanical pleurodesis were performed in 25 patients (96.1%), resection of the diaphragm — in 17 (65.4%), alloplastic reconstruction with a synthetic mesh implant — in 12 patients (46.1%), pulmonary resection — in 9 (34.6%). In 12 of 26 patients (46.1%) in the early postoperative period, 6 (3; 6.75) days after surgery, a recurrence of catamenial pneumothorax developed, which subsequently required repeated interventions. In 5 patients, the relapse clearly coincided with the menstrual cycle. Early recurrence of pneumothorax required repeated drainage of the pleural cavity in all the patients, chemical pleurodesis in 2, and prolonged drainage of the pleural cavity in 1.CONCLUSION. Surgeries involving resection and reconstruction of the diaphragm with a mesh implant, pleurectomy, lung resection do not ensure the removal of all endometrioid heterotopias of the diaphragm and lung, therefore, during the first mensis after surgery, in the early postoperative period, 46.1% of the patients had a recurrence of catamenial pneumothorax, with no formed pleurodesis, which contributes to the possibility of further recurrences of pneumothorax. Improving the immediate outcomes of complex treatment of catamenial pneumothorax is possible with the preventive administration of hormonal therapy 1.5–2 months before the planned surgical intervention, which requires a multidisciplinary approach of the thoracic surgeon and gynecologist.

Awake thoracoscopic non-anatomic pulmonary resections under thoracic paravertebral block: Results of a tertiary referral centre.

Awake video-assisted thoracoscopic surgery (VATS) helps to avoid the adverse effects of general anaesthesia (GA) with single-lung ventilation. Its usage in anatomic and non-anatomic pulmonary resections has spread worldwide, and it is mostly performed under thoracic epidural analgesia (TEA). We herein report our surgical experience with awake VATS non-anatomical resections under the thoracic paravertebral block (TPB). This retrospective, single-centred study reviewed patients undergoing awake VATS non-anatomical pulmonary resection under TPB, who voluntarily accepted awake VATS despite being suitable for GA and were found unsuitable for GA based on pre-operative assessment results. Demographic, pre-, per- and post-operative data were collected, analysed and compared with the literature data. Twenty-four patients (16 patients with normal pre-operative assessment results and 8 patients having high risk for GA) were selected. Fourteen bullectomies for recurrent spontaneous pneumothorax and 10 wedge resections (nine for metastasectomy and one for lung biopsy) were performed. Global in-operating room time was 77 ± 31 min. The morbidity rate was 20.8% (n = 5), including prolonged air leak in three and pneumonia in two patients. The mean duration of the chest tube was 1.9 ± 1.5 days and mean duration of hospital stay was 3.5 ± 2.1 days. There was no in-hospital mortality. Our results were mostly similar to the literature data. Non-anatomical lung resections by VATS can be performed easily and safely under TPB in awake patients. Although the perioperative and post-operative outcomes are not superior to other anaesthesia approaches, preferring TPB may help to avoid the serious potential complications of TEA.

A Potential Pneumothorax Induced by Immune Checkpoint Inhibitors: A Case Report and Literature Review

Background and Objectives: Immune checkpoint inhibitors (ICIs), which target immune checkpoints in cancer cells, are increasingly used as a mainstay in anticancer treatment. The combination of atezolizumab and bevacizumab is also a first-line treatment for hepatocellular carcinoma (HCC). However, ICIs can cause immune-related adverse events (IrAEs) which range from mild to severe, potentially leading to the need for discontinuing immunotherapy. We report a case of a pneumothorax, a rare side effect caused by IrAEs. Materials and Methods: This paper reports a case of a 78-year-old male HCC patient who developed a recurrent pneumothorax, suspected to be an adverse effect of ICIs. Results: The patient was a current smoker with a 30 pack-year smoking history. Prior to initiating ICIs, a chest CT scan showed mild emphysema and fibrosis attributable to smoking. Following ICI treatment, the patient developed a recurrent pneumothorax. Further tests revealed no underlying cause for the pneumothorax other than the ICIs and smoking, and there were no signs of intrapulmonary metastasis or pneumonitis. Conclusions: When a pneumothorax occurs in a patient undergoing immunotherapy, it is important to consider it as a potential adverse effect of the treatment. Special attention should be given to the possibility that immunotherapy may exacerbate underlying lung conditions. Patients should be advised on the importance of smoking cessation. As there are currently no guidelines for resuming immunotherapy after a pneumothorax, it is crucial to weigh the risks and benefits and consider dose reduction or discontinuation of the medication.

The predictive value of the Haller index for recurrent pneumothorax risk after primary spontaneous pneumothorax

Background: In this study, we aimed to evaluate the predictive value of the Haller index for recurrence risk in primary spontaneous pneumothorax patients. Methods: Between January 2018 and December 2023, a total of 285 patients (260 males, 25 females; median age: 23 years; range, 17 to 35 years) with primary spontaneous pneumothorax who underwent thoracic computed tomography and followed for at least one year were retrospectively analyzed. The patients were divided into two groups as the non-recurrence group (n=170) and recurrence (n=115) group. The Haller index was calculated from computed tomography scans at presentation and its predictive value for recurrent pneumothorax was estimated. Results: The median age was significantly higher in the non-recurrence group than in the recurrence group (p< 0.001). The median time to recurrence was two (IQR 1-3) months. The diagnostic validity of Haller index for predicting recurrence showed an area under the receiver operating characteristic of 0.824 (95% confidence interval [CI]: 0.775-0.866) (p< 0.001). The optimal cut-off value of Haller index (>2.4) showed a sensitivity of 70.43% (95% CI: 61.2-78.6) and specificity of 76.47% (95% CI: 69.4-82.6). Conclusion: A high Haller index is associated with increased recurrent pneumothorax risk in primary spontaneous pneumothorax patients. Traditionally used for pectus excavatum severity, incorporating Haller index in the management of these patients may help to identify high-risk patients and guide personalized management strategies.

A case of adenocarcinoma presenting with cystic lesion and recurrent pneumothoraces

BackgroundIn this paper, a rare case is reported, where the patient is a 74-year-old man. He suffered from recurrent pneumothorax within half a year and experienced a relapse after receiving conservative treatments.Case presentationDiagnostic workup revealed a cystic lesion in the right middle lobe, which has been interpreted as a bulla during the initial chest CT scan. Due to recurrent pneumothorax and poor response to the conservative treatments, the patient underwent bullectomy and pleurodesis. The pathology showed that the wall of the cystic lesion was invasive adenocarcinoma.ConclusionsThis case highlights the importance of monitoring cystic lesions in the lungs, especially in patients with a history of smoking and emphysema.

Analysis of Risk Factors for Recurrent Pneumothorax in Patients after Primary Spontaneous Pneumothorax Surgery: A Single-Center Retrospective Study

Background: Recurrent pneumothorax is a prevalent issue following primary spontaneous pneumothorax (PSP) surgery. This study identifies risk factors for PSP recurrence after surgery. Methods: This study included participants who had undergone surgery for PSP at our hospital from February 2021 to February 2024. Relevant demographic, clinical, radiological, and laboratory data were collected for each participant, and statistical analysis was performed using SPSS 29.0 statistical software (SPSS Inc., Chicago, IL, USA). Chi-squared tests, t-tests, and binary logistic regression analysis were utilized to assess the associations between risk factors and the likelihood of pneumothorax recurrence. Results: A total of 100 participants who underwent surgery for PSP at a single center were included in the analysis. The participants were 18–39 years old, with 53 participants in the no recurrent pneumothorax group and 47 participants in the recurrent pneumothorax group. No significant differences in demographic and clinical characteristics were observed between the two groups. The binary logistic regression analysis showed that c-reactive protein (odds ratio (OR) = 2.144, p < 0.001), white blood cell count (OR = 2.493, p = 0.011), neutrophil-to-lymphocyte ratio (OR = 3.031, p < 0.001), and chest tube duration (OR = 9.716, p = 0.010) were independent risk factors for the recurrence of PSP. Conclusion: This study emphasizes the crucial role of postoperative inflammatory response in the recurrence of PSP. Clinicians should monitor and manage these inflammatory markers to optimize postoperative management strategies, reduce recurrence rates, and improve long-term patient outcomes.

Timing of ultra-portable ultrasound (UPUS) Examinations in detecting clinically concerning recurrent pneumothorax

BackgroundRecurrent pneumothorax (rPTX) is a common complication following thoracostomy tube (TT) removal in chest trauma patients. While chest X-ray (CXR) is most commonly used to detect a rPTX, bedside ultraportable ultrasound (UPUS) is a feasible, low cost, and radiation free alternative. No consensus exists with regards to the optimal timing of diagnostic imaging to assess for rPTX post-TT removal. Accordingly, we sought to identify an ideal UPUS timing to detect a rPTX MethodsWe conducted a single center prospective study of adult (≥18years) patients admitted with a chest trauma. UPUS examinations were performed using the Butterfly iQ+™ ultrasound. Three intercostal spaces (ICS) were evaluated (2nd through 4th). Post-TT UPUS examinations were performed at different timepoints following tube removal (1–6 h). A rPTX on UPUS was defined as the absence of lung-sliding in one or more intercostal spaces, and was considered a clinically concerning rPTX if lung-sliding was absent in ≥2 ICS. UPUS findings were compared to CXR. ResultsNinety-two patients (97 hemi-thoraces) were included in the analysis. A total of 58 patients had a post-TT removal rPTX of which 11 were either clinically concerning or expanding. Comparing UPUS findings to CXR, the 3-hour post-TT removal ultrasound examinations were associated with the highest sensitivity. By hour 4, no rPTX showed expansion in size. Three patients required an intervention for a clinically concerning rPTX, all of whom were detected on UPUS 3-hour post-TT removal. ConclusionBedside UPUS performed at 3-hour post-TT removal has the highest sensitivity in detecting clinically concerning rPTX. Size of rPTX appears to stabilize by hour 4. In the absence of clinical symptoms, repeat imaging or observation of non-significant rPTX beyond 4 h may not provide added clinical benefit. Level of EvidenceLevel II, Diagnostic Tests or Criteria

Approach to primary spontaneous pneumothorax: Experiences of a new pediatric surgery clinic

BackgroundThe prevalence of spontaneous pneumothorax in children during adolescence is low, but not negligible. Treatment involves conservative management and surgery. The aim of this study was to review our patients treated with diagnoses of primary spontaneous pneumothorax and to describe our therapeutic approach, outcomes, and deficiencies. MethodsNinety (90) patients diagnosed with primary spontaneous pneumothorax and treated and followed-up in our clinic between June 2020 and December 2023 were included in the study. The research was performed as a retrospective file review. Trauma, secondary pneumothorax, and newborn pneumothorax were excluded. ResultsSeventy six (76) patients were boys and 14 were girls, with a mean age of 16,23 years. Right pneumothorax was present in 44 patients, left pneumothorax in 41, and bilateral pneumothorax in 5. The 90 patients’ initial treatment involved tube thoracostomy, and 36 individuals with prolonged and recurrent pneumothorax underwent video-assisted thoracoscopic surgery (VATS). ConclusionThe success rate of apical wedge resection and mechanical pleurodesis with direct VATS in the treatment of prolonged and recurrent primary spontaneous pneumothorax in children is greater than 90 %. We think that, VATS is a successful, effective and safe treatment for spontaneous pneumothorax due to a significantly lower recurrence rate compared to chest tube insertion.

Predictors of surgical intervention in first episode primary spontaneous pneumothorax requiring chest drain insertion.

Primary spontaneous pneumothorax occurs in patients with no underlying lung disease and guidelines recommend chest tube drainage for the first episode, with surgical intervention reserved for recurrent episodes, persistent air leak or failure of lung re-expansion. Modern surgical management is associated with reduced length of hospital stay and superior freedom from recurrence compared with chest tube drainage alone. The objective of this study was to identify risk factors for failed chest tube drainage in patients who present with first episode primary spontaneous pneumothorax. A retrospective analysis of patients who presented to Royal Prince Alfred Hospital, Australia with first episode PSP and underwent chest tube insertion was performed. Patient demographics and size of pneumothorax were examined in relation to the primary outcome, a composite of failed chest tube drainage and recurrent ipsilateral pneumothorax. Fifty-five patients underwent chest tube drainage for first episode primary spontaneous pneumothorax between 1st January 2017 and 31st December 2020. Complete lung collapse on admission chest x-ray was associated with an increased risk of the primary outcome (63% versus 19%, OR 7.3 [96% CI 2.0-27.4), P = 0.004). This small retrospective study found that patients that undergo chest drain insertion for first episode primary spontaneous pneumothorax who present with complete lung collapse on admission are at high risk of requiring pleurodesis and therefore may benefit from early surgical referral.

Recurrent spontaneous pneumothorax secondary to lung cystic lesions in a case of convalescent COVID-19: a case report and literature review

BackgroundWhile spontaneous pneumothorax has been documented in COVID-19 patients, reports on recurrent spontaneous pneumothorax due to cystic lesions in convalescent COVID-19 patients are scarce. The progression of these lung cystic lesions remains inadequately explored.Case presentation and literature reviewAn 81-year-old male, a non-smoker with a history of rheumatoid arthritis, presented with fever, cough, and expectoration for 14 days. Initially diagnosed with moderate COVID-19, he deteriorated to severe COVID-19 despite adherence to local treatment guidelines. Successive identification of three cystic lesions termed “bulla” or “pneumatocele”, and one cystic lesion with air-fluid level, referred to as “pneumo-hamatocele” (PHC), occurred in his lungs. Gradual improvement followed anti-inflammatory therapy and optimal supportive care. However, on day 42, sudden worsening dyspnea prompted a computed tomography (CT) scan, confirming a right spontaneous pneumothorax and subcutaneous emphysema, likely due to PHC rupture. Discharge followed chest tube implementation for pneumothorax resolution. On day 116, he returned to the hospital with mild exertional dyspnea. Chest CT revealed recurrent right pneumothorax from a remaining cyst in the right lung. Apart from our patient, literature retrieval identified 22 COVID-19 patients with spontaneous pneumothorax due to cystic lesions, with a male predominance (95.6%; 22/23). Diagnosis of pneumothorax and lung cystic lesions occurred around day 29.5 (range: 18–35) and day 26.4 (± 9.8) since symptom onset, respectively. Except for one patient whose pneumothorax occurred on day seven of illness, all patients eventually recovered.ConclusionsRecurrent spontaneous pneumothorax secondary to lung cystic lesions may manifest in convalescent COVID-19 patients, particularly males with COVID-19 pneumonia. Chest CT around 2 to 3 weeks post-symptom onset may be prudent to detect cystic lesion development and anticipate spontaneous pneumothorax.

CT features associated with contralateral recurrence of spontaneous pneumothorax.

Spontaneous pneumothorax recurs in 30 to 54% of patients without surgery. Identifying individuals likely to suffer a recurrence, who might benefit from pre-emptive surgery, is challenging. Previous meta-analysis suggested a relationship between contralateral recurrence and specific computed tomography (CT) findings. We analysed CT images and recurrence rates 243 patients seen by our tertiary referral pneumothorax service. We validated the meta-analysis observation that contralateral lung cysts are associated with a higher risk of contralateral recurrence in younger individuals. Furthermore, we observed the size of contralateral cysts to be associated with increased contralateral recurrence in younger patients. The detection of contralateral lung cysts might therefore help identify younger patients more likely to benefit from pre-emptive surgery.

Incidence and risk factors for recurrent primary spontaneous pneumothorax after video-assisted thoracoscopic surgery: a systematic review and meta-analysis.

The incidence and risk factors for recurrent primary spontaneous pneumothorax (PSP) after video-assisted thoracoscopic surgery (VATS) remain controversial. A systematic review and meta-analysis were conducted to determine the incidence and risk factors for recurrence of PSP after VATS. A systematic search of PubMed, Web of Science, Embase, and Cochrane Library databases was conducted to identify studies that reported the rate and risk factors for recurrence of PSP after VATS published up to December 2023. The pooled recurrence rate and odds ratio (OR) with 95% confidence interval (CI) were calculated using a random-effects model. In addition, risk factors were similarly included in the meta-analysis, and sources of heterogeneity were explored using meta-regression analysis. A total of 72 studies involving 23,531 patients were included in the meta-analysis of recurrence. The pooled recurrence rate of PSP after VATS was 10% (95% CI: 8-12%). Male sex (OR: 0.61; 95% CI: 0.41-0.92; P=0.02), younger age [mean difference (MD): -2.01; 95% CI: -2.57 to -1.45; P<0.001), lower weight (MD: -1.57; 95% CI: -3.03 to -0.11; P=0.04), lower body mass index (BMI) (MD: -0.73; 95% CI: -1.08 to 0.37; P<0.001), and history of contralateral pneumothorax (OR: 2.46; 95% CI: 1.56-3.87; P<0.001) were associated with recurrent PSP, whereas height, smoking history, affected side, stapling line reinforcement, and pleurodesis were not associated with recurrent PSP after VATS. The recurrence rate of PSP after VATS remains high. Healthcare professionals should focus on factors, including sex, age, weight, BMI, and history of contralateral pneumothorax, that may influence recurrence.

Small cell lung carcinoma presenting initially with recurrent pneumothoraces: a case report

BackgroundPneumothorax is a non-physiological collection of air in the pleural space. Pneumothoraces can be broadly divided into Primary, Secondary, and Traumatic. Cancer of the lung is a known cause of secondary pneumothorax in both primary and metastatic lesions, however, pneumothorax as the presentation of lung cancer is exceedingly rare. Non-small cell lung carcinoma (NSCLC) has been reported in the literature to present with a pneumothorax, particularly in adeno/squamous cell carcinomas. It is almost completely unheard of for small cell lung carcinoma (SCLC) to present with a pneumothorax.Case PresentationWe present the case of a 62-year-old male patient, presenting twice in two months with spontaneous pneumothorax. The initial management involved admission and chest drain insertion. The patient has a past medical history of COPD and a significant smoking history. On the second admission, he underwent a video-assisted thoracoscopic (VATS) bullectomy and talc pleurodesis. The pathology report of the resected specimen confirmed SCLC with extensive infiltration. No gross evidence of metastatic spread was present on CT. Due to the R1 resection and significant risk of recurrence, the management plan included four cycles of adjuvant chemotherapy with carboplatin and etoposide, and radiotherapy as a consideration upon completion.ConclusionsPneumothorax as the presentation of lung cancer imparts a very poor prognosis, however the reasons for this are largely unknown. Furthermore, the mechanisms underlying spontaneous pneumothorax in lung cancer are also not well understood.

Role of low-pressure negative pleural suction in patients with thoracic trauma - a randomized controlled trial.

Thoracic trauma frequently includes a pneumothorax, hemothorax, or hemopneumothorax, which may necessitate an Intercostal drainage (ICD) for air and fluid evacuation to improve breathing and circulatory function. It is a simple and life-saving procedure; nevertheless, it carries morbidity, even after its removal. Efforts have been made continuously to shorten the duration of ICD, but mostly in non-trauma patients. In this study, we evaluated the impact of negative pleural suction over the duration of ICD. This study was a prospective randomized controlled interventional trial conducted at Level 1 Trauma Centre. Thoracic trauma patients with ICD, who met the inclusion criteria (sample size 70) were randomized into two groups, the first group with negative pleural suction up to -20 cm H2O, and the second group as conventional, i.e. ICD connected to underwater seal container only. The primary objective was to compare the duration of ICDs and the secondary objectives were the length of hospital stay and various complications of thoracic trauma. Duration of ICD was measured in median days with minimum & maximum days. For the negative suction group, it was 4 days (2-16 days); for the conventional group, it was also 4 days (2-17 days). There was also no significant difference among both groups in length of hospital stay. The beneficial effect of negative pleural suction to ICD could not be demonstrated over the duration of ICD and hospital stay. In both groups, there was no significant difference in complication rates like recurrent pneumothorax, retained hemothorax, persistent air leak, and empyema. Therapeutic Study, Level II TRIAL REGISTRATION: This trial was registered with the Clinical Trial Registry of India (CTRI) with registration no. REF/2020/11/038403.

A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier.

Birt-Hogg-Dube (BHD) is a rare cause of spontaneous pneumothorax caused by an autosomal-dominant mutation in the folliculin gene (FLCN). The syndrome can have widely variable presentations and is associated with recurrent pneumothorax, cystic lung disease, characteristic skin lesions, and renal tumors. Lung cysts have been described in over 80% of cases, and roughly 24 to 38% of patients have at least one pneumothorax and over 75% have multiple pneumothoraces. One of the defining features of this condition is fibrofolliculomas, which are benign tumors of the hair follicle. Given its rarity, the diagnosis is often missed and/or delayed for many years. This delay has clinical implications as screening for renal cancer is recommended in both the patient and affected family members. Increased recognition of this syndrome can lead to more patients receiving definitive treatment for their first pneumothorax, and being screened for renal cancers. We present a rare case of Birt-Hogg-Dubé with a never before described mutation in the FLCN gene, leading to spontaneous pneumothorax in an active duty male soldier.

Treatment and Outcomes of 844 Cases of Pneumothorax in Heritable Connective Tissue Disorders

BackgroundCharacteristics, practice patterns, and clinical outcomes of secondary spontaneous pneumothorax (SSP) with heritable connective tissue disorders (Marfan, Ehlers-Danlos, and Birt-Hogg-Dubé syndromes) are unclear. MethodsA nationwide Japanese inpatient database that included data of 524 patients with SSP (884 hospitalizations) and 137,821 with primary spontaneous pneumothorax between July 2010 and March 2020 was used in this study. Hospitalization for SSP (n = 884) was categorized into surgical (n = 459) and nonsurgical (n = 425) groups, and the patient characteristics, treatment, and outcomes were compared between the groups. Multivariable analyses were performed to evaluate risk factors for pneumothorax recurrence. We also compared the characteristics of patients with different underlying heritable connective tissue disorders. ResultsCompared with the nonsurgical group, the surgical group had less frequent readmission for pneumothorax (26% vs 44%; hazard ratio, 0.47; 95% CI, 0.38-0.58). Young patients (2.46; 1.83-3.32) or those with Birt-Hogg-Dubé syndrome (2.53; 1.77-3.63) had a high risk of recurrence. Pneumothorax occurred frequently in teenagers with Marfan syndrome, in those aged 20 to 39 years with Ehlers-Danlos syndrome, and in those aged ≥40 years with Birt-Hogg-Dubé syndrome. ConclusionsDetailed information on the characteristics and clinical course of SSP in heritable connective tissue disorders will aid in the clinical decision-making process.