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A Puzzling Pneumothorax in a 36-Year-Old Woman
A Puzzling Pneumothorax in a 36-Year-Old Woman

Medscape

time24-07-2025

  • Health
  • Medscape

A Puzzling Pneumothorax in a 36-Year-Old Woman

A 36-year-old woman with no significant medical history presented with recurrent spontaneous pneumothorax accompanied by acute chest pain and shortness of breath, an unusual occurrence, particularly in non-smokers without underlying lung disease. The case was reported by Farman H. Fatah, MD, and colleagues from the University of Sulaymaniyah, Sulaymaniyah, Iraq. The Patient and Her History The patient presented to the emergency department with acute left-sided chest pain and shortness of breath. She had a history of asthma and right-sided spontaneous pneumothorax 7 years earlier, which was treated with video-assisted thoracoscopic surgery (VATS) and pleurodesis. Her family history was notable for asthma on her mother's side and colonic cancer on her father's side. She denied any history of smoking or environmental exposures. On physical examination, breath sounds were markedly decreased over the left hemithorax. A chest x-ray was performed, revealing a left-sided apical pneumothorax characterised by a region of radiolucency with absent lung markings, indicating air accumulation in the pleural space. A pigtail catheter was inserted to relieve the pneumothorax. Despite appropriate pigtail placement and conservative management, the pneumothorax persisted. The patient was referred for surgical evaluation and underwent VATS with pleurodesis and wedge resection. Intraoperatively, a ruptured subpleural bleb in the left upper lobe was identified and excised. Histopathology of the resected tissue was non-specific and showed no malignancy. A chest CT was performed to investigate the underlying cause. Imaging revealed the site of the bleb rupture and multiple thin-walled cysts scattered throughout the lung parenchyma. Given the history of recurrent spontaneous pneumothorax, presence of bilateral pulmonary cysts, and family history of cancer, Birt-Hogg-Dubé syndrome (BHDS) was suspected. Findings and Diagnosis Genetic testing for mutations in the FLCN gene confirmed the diagnosis. The test included sequencing and deletion/duplication analyses of FLCN . A pathogenic mutation in FLCN , confirmed by molecular testing, established a diagnosis of BHDS. BDHS is a rare autosomal dominant disorder caused by mutations in the FLCN gene and is characterised by a clinical triad of pulmonary cysts with spontaneous pneumothorax, cutaneous fibrofolliculomas, and renal tumours. Although the estimated prevalence of BHDS is approximately two cases per million, its actual incidence is believed to be higher due to frequent underdiagnosis and highly variable clinical presentations, even among members of the same family. BHDS is often suspected in patients presenting with cystic lung lesions, a family history of related manifestations, recurrent pneumothorax, and characteristic dermatologic findings. A definitive diagnosis is established through genetic testing to confirm pathogenic variants in the FLCN gene. The patient had no known renal or dermatologic manifestations at the time of diagnosis of the disease. She continued to experience mild postoperative dyspnoea and chest discomfort but resumed her daily activities and returned to work. She was scheduled for routine follow-up, including pulmonary function testing and renal surveillance imaging, according to the BHDS management guidelines. Discussion Pulmonary manifestations are often the earliest and most prominent clinical features of BHDS, frequently preceding skin and renal findings. The syndrome is characterised by multiple bilateral pulmonary cysts that tend to be irregular, thin-walled, and predominantly located in the basal and subpleural regions of the lungs. These cysts predispose affected individuals to spontaneous pneumothorax, which can be the first and sometimes the only presenting symptom. One of the key challenges in diagnosing BHDS is its variable presentations. While the classical triad includes skin fibrofolliculomas, renal tumours, and pulmonary cysts, some individuals, like our patient, may present solely with pulmonary involvement. This phenotypic variability can lead to delayed or missed diagnoses, particularly when cutaneous or renal signs are absent or subtle. Approximately 41% of pulmonary cysts present with spontaneous pneumothorax, with a recurrence rate of 41%. The majority of patients (> 90%) develop multiple fibrofolliculomas, especially on the face and upper trunk, in the second or third decade of life, with dermatologic findings serving as the first clinical clue in 25%-50% of cases. Renal tumours are observed in nearly 30% of patients, at a mean age of 50 years. Although the estimated prevalence of BHDS is approximately two cases per million, its actual incidence is believed to be higher due to frequent underdiagnosis and highly variable clinical presentations, even among members of the same family. This highlights the importance of considering BHDS in the differential diagnosis of spontaneous pneumothorax, particularly when it is recurrent or associated with atypical cystic lung disease. Genetic confirmation through FLCN mutation testing is crucial not only to establish a definitive diagnosis but also to initiate appropriate long-term surveillance for potentially life-threatening renal malignancies. Surgical intervention, such as VATS pleurodesis, may be necessary when conservative approaches fail. This case underscores the importance of considering BHDS in patients presenting with recurrent spontaneous pneumothorax, particularly when bilateral pulmonary cysts are evident and no other clear aetiology is identified.

Cancer-stricken footy WAG Kellie Finlayson gives heartbreaking insight into what she thinks about when she has chemotherapy
Cancer-stricken footy WAG Kellie Finlayson gives heartbreaking insight into what she thinks about when she has chemotherapy

Daily Mail​

time22-04-2025

  • Entertainment
  • Daily Mail​

Cancer-stricken footy WAG Kellie Finlayson gives heartbreaking insight into what she thinks about when she has chemotherapy

Kellie Finlayson has given a heartbreaking insight into what she thinks about while undergoing chemotherapy. The brave mum, who is married to Port Adelaide star Jeremy Finlayson, is battling stage four bowel and lung cancer and has undergone thoracic surgery in recent months. She was first diagnosed with bowel cancer in 2021 and revealed in 2022 that the illness had spread to her lungs. After posting a hopeful update on social media in 2023 she stated that she would be stopping chemotherapy, but last July, she revealed to followers on social media that the cancer had begun to grow again and would be undergoing further chemotherapy treatment. Finlayson, who is in her late 20s, has now spoken about what she thinks about during her chemotherapy sessions, revealing that the thought came into her mind after listening to the Inherited Podcast. 'What I actually came on here to talk about was a podcast that I listened to, it was a couple of weeks ago, but it's stuck with me and now every time someone asks me it is kind of the response I use,' She said addressing followers in an Instagram story. 'It was the Inherited Podcast with Michelle's mum which obviously hit home for obvious reasons. She added: 'But something that she said really strung a cord with me. 'She was asked if she was scared of dying, or something similar to that, I don't want to put words into her mouth, but what stuck with me was the part where she said not a lot of people get to make the most of their ending. 'What I was getting at is that someone could get hit by a bus or have a sudden heart attack or an illness that gets them really quickly and they don't get the chance to say goodbye. 'Not that I've ever really done that but like obviously a lot of people do have to do that because they're given a timeline or whatever it may be, but they get to make the most of their last days or even choose their last meal. You know we always talk about our death row meal and all that sort of jazz. 'But now when people talk to me about having to do chemo, which I'm about to do, which is why I'm thinking about it, I'm like: "Yes at least I get to do things that get to prolong my life". 'Like no it will probably never be gone. But I get to do things, I get to create a legacy, I get to spend time with my family or my friends and do things that I want to do. You know.' Earlier in March, Finlayson revealed she had undergone a VATS procedure to remove a piece of tissue from her lungs. VATS stands for Video-Assisted Thoracic Surgery, which is a form of keyhole surgery. She revealed that doctors had removed metastatic tissue from her lungs. Metastatic tissue occurs when cancer cells spread from a primary tumour to other areas in the body to form new tumours. Finlayson is now set to release a book, 'There Must Be More: Finding Purpose In The Face Of The Unimaginable', with the book set to shed light on her journey. The inspiring mum said she was 'so incredibly proud to share this piece with me and the world, and still so confused every day as to why my story is worthy of being literally printed in a book.' 'Imposter syndrome is screaming, but deep down, I know this is bigger than me. 'This is for those who have faced devastation, for those who feel alone, for those who no longer have a voice to share their story. 'For those who are stuck for words, for those who feel helpless. 'I feel like I've lived a dozen lives, and somehow, beyond motherhood, becoming an author might just be the most surreal one yet. 'This is hope. This is me - the rawest version of me.' The book is set to delve into how she has dealt with such devastating news but has bounced back.

King's College Hospital Dubai pioneers minimally invasive lung cancer surgery, transforming patient care in the UAE
King's College Hospital Dubai pioneers minimally invasive lung cancer surgery, transforming patient care in the UAE

Khaleej Times

time29-01-2025

  • Health
  • Khaleej Times

King's College Hospital Dubai pioneers minimally invasive lung cancer surgery, transforming patient care in the UAE

Lung cancer, a leading cause of cancer-related deaths worldwide, is experiencing a transformative shift in treatment approaches, thanks to advancements in minimally invasive surgical techniques. At the forefront of this evolution is King's College Hospital Dubai, where cutting-edge procedures such as Video-Assisted Thoracoscopic Surgery (VATS), also known as keyhole surgery, are revolutionising lung cancer treatment. By offering these advanced techniques, the hospital is significantly improving patient outcomes, reducing recovery times, and enhancing the overall treatment experience for patients. In the UAE, where risk factors like smoking, exposure to secondhand smoke, and family history contribute to higher lung cancer rates, the need for innovative treatments has never been greater. Lung cancer progresses through four stages, each requiring specialised care: Stage 1, where the cancer is confined to the lungs, is often treated effectively with minimally invasive surgery; Stage 2, where the cancer has spread to nearby lymph nodes, typically involves surgery and chemotherapy; Stage 3 requires a multidisciplinary approach, including chemotherapy, radiation, and occasionally surgery; and Stage 4, the most advanced stage, is managed with targeted therapy, immunotherapy, or palliative care. Keyhole surgery, or VATS, represents a groundbreaking leap in thoracic surgery. By making small incisions in the chest wall and using a thoracoscope— a thin tube equipped with a camera—surgeons can visualise and operate on the lungs without the need for larger incisions or rib spreading, as is common in traditional open surgery. The benefits of this minimally invasive approach are clear: reduced pain, faster recovery, and enhanced comfort for patients. With smaller incisions, there is less trauma to the body, leading to less postoperative pain, shorter hospital stays, and a quicker return to daily activities. Dr James Douglass Aitchison, consultant thoracic surgeon at King's College Hospital Dubai, emphasised the significance of these advancements in lung cancer treatment. "With keyhole surgery, we are revolutionising lung cancer treatment by prioritising patient recovery and comfort. This technique reduces the burden of surgery, allowing patients to focus on their journey to healing with an improved quality of life," he said. VATS is particularly effective for patients with early-stage non-small cell lung cancer (NSCLC). To determine eligibility, comprehensive assessments, including imaging studies and lung function tests, are conducted to ensure patients are suitable candidates for the procedure. The advancements in keyhole surgeries at King's College Hospital Dubai represent a pivotal milestone in the fight against lung cancer. By combining innovative diagnostics, state-of-the-art surgical techniques, and personalised treatment plans, the hospital is setting new standards in patient care. As Dr Aitchison aptly put it, "We're not just treating cancer; we're transforming lives."

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