United States

Background
Alpha-1 Antitrypsin Deficiency (AATD) is an underrecognized genetic condition affecting an estimated 1 in 2,000 to 1 in 5,000 individuals worldwide, with approximately 70,000 to 100,000 cases reported in the United States. Alpha-1 Antitrypsin (AAT) plays a crucial role in protecting the lungs by inhibiting the activity of neutrophil elastase (NE), but in cases of AAT deficiency, uncontrolled NE activity can lead to lung damage through quantum proteolysis. Recurrent spontaneous pneumothorax is a significant complication observed in patients with underlying lung diseases like AATD and chronic obstructive pulmonary disease (COPD). The association between AATD and spontaneous pneumothorax remains relatively unexplored, presenting unique challenges in managing recurrent pneumothorax in these patients. This case report aims to provide valuable insights into the clinical features, diagnostic workup, and therapeutic interventions and associated challenges in managing a patient with recurrent spontaneous
pneumothorax in the context of AATD and COPD, with the objective of offering diagnostic and therapeutic considerations for similar cases.

Case Presentation
61 yo M with A1AT deficiency with severe bullous disease, no known cirrhosis, OSA intolerant of CPAP, hx of recurrent Lt pneumothorax and associated COPD presented with dyspnea. Examination revealed absent lung sounds on the left side. Oxygen support was initiated, and a chest x-ray confirmed left-sided pneumothorax. The patient underwent a successful left-sided pigtail catheter placement procedure to relieve the pneumothorax. This was his fourth episode of Secondary Spontaneous Pneumothorax. Two episodes occurred when he was younger, and the most recent two episodes required the implantation of a left chest tube. The very last episode
appeared on 5/2021. The patient&#39;s history of heavy smoking, substance abuse, and occupational asbestos exposure contributed to the severity of respiratory issues. Although his condition improved with pulmonary rehabilitation and medical therapy, the limitations of available interventions underscore the need for individualized approaches in complex cases. Lung volume reduction surgery and endobronchial valves were not viable due to extensive lung involvement and airway hyperdynamic collapse. The recommendation for lung transplantation aimed to enhance the quality of life and life expectancy. Pleurodesis emerged as a potential option if transplantation was not feasible. Further investigations were conducted for the transplant workup, leading to approval by the Medical Review Board. Following the successful placement of the Heimlich valve, the patient was discharged with instructions for outpatient follow-up.

Discussion
This case emphasizes the association between AATD and Recurrent secondary spontaneous pneumothorax, bringing attention to the difficulties encountered in the management of this condition. Further research is needed to optimize treatment approaches, explore the efficacy of alternative interventions, and understand long-term outcomes in this complex patient population.

2023 AMA Research Challenge

Alpha-1 Antitrypsin Deficiency Unleashed:
A Case Report On Tackling Recurrent Secondary Spontaneous Pneumothorax

Background
Alpha-1 Antitrypsin Deficiency (AATD) is an underrecognized genetic condition affecting an estimated 1 in 2,000 to 1 in 5,000 individuals worldwide, with approximately 70,000 to 100,000 cases reported in the United States. Alpha-1 Antitrypsin (AAT) plays a crucial role in protecting the lungs by inhibiting the activity of neutrophil elastase (NE), but in cases of AAT deficiency, uncontrolled NE activity can lead to lung damage through quantum proteolysis. Recurrent spontaneous pneumothorax is a significant complication observed in patients with underlying lung diseases like AATD and chronic obstructive pulmonary disease (COPD). The association between AATD and spontaneous pneumothorax remains relatively unexplored, presenting unique challenges in managing recurrent pneumothorax in these patients. This case report aims to provide valuable insights into the clinical features, diagnostic workup, and therapeutic interventions and associated challenges in managing a patient with recurrent spontaneous
pneumothorax in the context of AATD and COPD, with the objective of offering diagnostic and therapeutic considerations for similar cases.

Case Presentation
61 yo M with A1AT deficiency with severe bullous disease, no known cirrhosis, OSA intolerant of CPAP, hx of recurrent Lt pneumothorax and associated COPD presented with dyspnea. Examination revealed absent lung sounds on the left side. Oxygen support was initiated, and a chest x-ray confirmed left-sided pneumothorax. The patient underwent a successful left-sided pigtail catheter placement procedure to relieve the pneumothorax. This was his fourth episode of Secondary Spontaneous Pneumothorax. Two episodes occurred when he was younger, and the most recent two episodes required the implantation of a left chest tube. The very last episode
appeared on 5/2021. The patient's history of heavy smoking, substance abuse, and occupational asbestos exposure contributed to the severity of respiratory issues. Although his condition improved with pulmonary rehabilitation and medical therapy, the limitations of available interventions underscore the need for individualized approaches in complex cases. Lung volume reduction surgery and endobronchial valves were not viable due to extensive lung involvement and airway hyperdynamic collapse. The recommendation for lung transplantation aimed to enhance the quality of life and life expectancy. Pleurodesis emerged as a potential option if transplantation was not feasible. Further investigations were conducted for the transplant workup, leading to approval by the Medical Review Board. Following the successful placement of the Heimlich valve, the patient was discharged with instructions for outpatient follow-up.

Discussion
This case emphasizes the association between AATD and Recurrent secondary spontaneous pneumothorax, bringing attention to the difficulties encountered in the management of this condition. Further research is needed to optimize treatment approaches, explore the efficacy of alternative interventions, and understand long-term outcomes in this complex patient population.

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Idiopathic Pulmonary Fibrosis (IPF) is a spontaneously occurring, progressive, fibrosing disease of the lung, most commonly identified in adults 50 years of age and older.[1] Diagnosis may be made via high-resolution CT (HRCT) when a Usual Interstitial Pneumonia (UIP) pattern is present; however, if the diagnosis remains questionable, surgical lung biopsy (SLB) is often pursued.[2]

We present the case of a 39-year-old African-American male with a medical history of bronchiectasis accompanied by chronic, productive cough and social history including ongoing tobacco use and prior shipyard employment. He presented with two weeks of progressive exertional dyspnea, increased sputum production, and fever. 

Examination revealed tachycardia, bilateral inspiratory rales and digital clubbing. Progression of baseline bilateral interstitial opacities was noted on chest x-ray, and HRCT revealed diffuse interstitial thickening and ground-glass opacities with basilar predominance, and diffuse bronchiectasis. Evaluation for alpha-1 antitrypsin deficiency, cystic fibrosis mutations, celiac disease, autoimmune serologies, and immunoglobulin deficiency were unremarkable. Bronchoalveolar lavage analysis demonstrated neutrophil predominance with negative microbiologic testing. He ultimately underwent SLB of the right upper and lower lobes demonstrating diffuse alveolar damage superimposed on patchy collagen fibrosis with associated architectural distortion in the form of honeycomb changes consistent with UIP. Per the 2019 IPF guidelines, he was diagnosed with IPF and given an “IPF Likely” grade.[2]

IPF is thought to develop from repetitive micro-injury to chronically dysregulated alveolar epithelium, though the exact etiology remains undetermined. Our patient’s tobacco history or occupational exposures may have been the nexus for his interstitial lung damage[1] 

UIP is the radiologic/histopathologic hallmark of IPF, demonstrating reticular fibrosis and subpleural honeycombing with basilar predominance. Bronchiectasis in IPF is the result of fibrosis applying traction to the airways with diffuse bronchiectasis being uncommon.[2,3] Conversely, our case demonstrates a diffuse bronchiectatic process that preceded significant fibrotic changes of IPF. Whether the development of IPF is attributable to recurrent injury from exacerbations of idiopathic bronchiectasis, or this patient’s bronchiectasis was an unappreciated indicator of an underlying, progressive ILD is difficult to ascertain.

This case raises questions about the potential benefit of periodic imaging in bronchiectasis patients. Society guidelines only recommend it at time of diagnosis and clinical deterioration.[2,4] We argue that periodic imaging should be tailored to bronchiectasis etiology, as otherwise unexplained disease may be an indicator of risk for ILD development.

We encourage physicians to be mindful that patients with bronchiectasis may be at risk for IPF development.

1. Richeldi L, Collard HR, Jones MG. Idiopathic pulmonary fibrosis. Lancet. 2017;389(10082):1941-1952. doi:10.1016/S0140-6736(17)30866-8
2. Raghu G, Remy-Jardin M, Richeldi L, et al. Idiopathic Pulmonary Fibrosis (an Update) and Progressive Pulmonary Fibrosis in Adults: An Official ATS/ERS/JRS/ALAT Clinical Practice Guideline. Am J Respir Crit Care Med. 2022;205(9):E18-E47. doi:10.1164/rccm.202202-0399ST
3. Piciucchi S, Tomassetti S, Ravaglia C, et al. From “ traction bronchiectasis ” to honeycombing in idiopathic pulmonary fibrosis : A spectrum of bronchiolar remodeling also in radiology ? BMC Pulm Med. Published online 2016:1-4. doi:10.1186/s12890-016-0245-x
4. Lynch DA, Sverzellati N, Travis WD, et al. Diagnostic criteria for idiopathic pulmonary fibrosis: a Fleischner Society White Paper. Lancet Respir Med. 2018;6(2):138-153. doi:10.1016/S2213-2600(17)30433-2

Which Came First: Bronchiectasis or IPF?

Background: Lipoid pneumonia is a rare condition caused by the inflammation of lung tissue due to the accumulation of lipid substances from inhalation or aspiration. There are two main types: exogenous lipoid pneumonia, caused by the inhalation or aspiration of external sources like vegetable oil or mineral oil typically in industrial settings, and endogenous lipoid pneumonia, caused by internal factors such as airway obstruction, abnormal lipid metabolism or gastro-esophageal reflux disease. Both types present respiratory symptoms like chest pain, cough and shortness of breath. Prompt diagnosis is crucial for preventing complications and promoting 
lung healing. There are limited case reports on endogenous lipoid pneumonia. We present a case of a 72 year-old elderly patient with microscopic airway obstruction leading to endogenous lipoid pneumonia.
Case Presentation: A 72-year-old chronic smoker male presents with cough, sputum 
production and shortness of breath with no fevers, chills, rigors except for right sided pleuritic chest pain which is being treated for pneumonia with Augmentin and azithromycin along with prednisone for 6 months. CT scan of chest revealed a right upper lobe anterior segment newly discovered lung mass along with mediastinal adenopathy. The patient underwent bronchoscopy with biopsy of the lung mass which showed the combination of focal organizing pneumonia and prominent non-necrotizing granulomatous inflammation along with foamy macrophages, suggesting proximal airway obstruction also known as microscopic obstructive pneumonia.
Discussion: Endogenous lipoid pneumonia usually develops in association with bronchial obstruction from lung cancers, infection or lipid storage disease. In this case, the patient with endogenous disease didn't have any above mentioned conditions except for obstruction from granulomatous inflammation. And thus the microscopic proximal airway obstruction can lead to endogenous lipid accumulation causing pneumonia.

Endogenous lipoid pneumonia due to microscopic airway obstruction: A 
diagnostic dilemma

Background

Adenocarcinoma of the lung has shown an increasing incidence, but Pulmonary mucinous adenocarcinoma, a variant of invasive adenocarcinoma, remains a rare entity with non-specific clinical manifestations. Invasive mucinous adenocarcinoma (IMA) accounts for 5 % of pulmonary adenocarcinoma. IMA exhibits distinct characteristics, including invasive patterns characterized by either columnar or goblet cells. Because of its unique clinical characteristics, such as its peripheral location and a high incidence of multifocal, multi-lobular, and bilateral presence, it has been recognized as a distinct entity. 

Case Presentation

A 69-year-old male patient with a known history of interstitial lung disease presented with a gradual onset chronic nonproductive cough with exercise intolerance on exertion, which significantly worsened over the past six months. Two bronchoscopies with transbronchial biopsy and bronchoalveolar lavage in the past year failed to give any diagnosis. A recent scan, one month ago revealed worsening of bilateral infiltrates on CT from the previous scans; along with interstitial thickening, mosaic attenuation, and a new cavitary lung lesion with a left lobe atelectatis, and necrotic lung tissue. Cell count at that time did not show eosinophilia. The patient had no exposure to asbestos, chemicals, fumes, dust, silica, or mold nor weight loss. Antinuclear antibody and Antineutrophilic-cytoplasmic-antibody were negative. Due to travel history to southeast Asia and South America, workup for Mycobacterium Tuberculosis , Histoplasma , Blastomyces , and Aspergillus was done which came negative. A wedge biopsy of the left lung revealed involvement morphologically similar to adenocarcinoma with mucinous features which were characterized by atypical mucinous tumor cells. These findings can be found in IMA However, the adenocarcinoma had atypical features and presented as a diffuse and multifocal distribution, which is uncommon for this type of tumor. 

Discussion
Common symptoms observed in individuals with IMA include nonspecific manifestations such as sputum production, cough, shortness of breath, and fever but our patient presented with a chronic nonproductive cough and dyspnea on exertion, without other symptoms. Diffuse, right upper lobe involvement was present instead of the typical peripheral lower lobe, predominance in IMA. Surgical lung biopsy and CT-guided percutaneous lung biopsy have been known to achieve a diagnostic yield of 100%. However, it is worth noting that biopsied specimens obtained through this approach may primarily consist of acellular mucin pools. A multidisciplinary approach should be adopted to address respiratory symptoms, facilitate the use of anticancer drugs, and extend patient survival while carefully weighing the risks and benefits of surgery.

Hidden in Plain Sight: A Unique Presentation of Lung Adenocarcinoma

Background
Described in 1770, Bouveret’s syndrome is rare and characterized by gastric outlet obstruction caused by gallstone-driven fistulization between the gallbladder and the stomach or duodenum, accounting for 1-3% of gallstone ileus. Women with a mean age of 71 years are the primary demographic. 91% undergo surgical intervention for obstruction relief. Mortality ranges from 12-27%, with morbidity reaching 50%. We present a case of Bouveret’s syndrome with gallstone migration to the jejunum resulting in gallstone ileus, with the benefit of multiple imaging modalities. 

Case Presentation
A 54-year-old female presented with 4-day history of right upper quadrant abdominal pain. Ultrasound (US) elicited sonographic Murphy’s sign and showed gallbladder wall thickening and a gallstone. Subsequent computed tomography (CT) with contrast demonstrated cholecystitis, pneumobilia, and a cholecytoduodenal fistula. A large radiolucent gallstone was impacted in the duodenum resulting in gastric outlet obstruction. 

On hospital day 2, she developed vomiting with abdominal distension and a nasogastric tube provided relief. Abdominal radiographs showed new small bowel dilation concerning for small bowel obstruction (SBO). Magnetic resonance imaging (MRI) the following day redemonstrated cholecystitis and cholecystoduodenal fistula. Importantly, it also showed a new proximal SBO, with transition point in the jejunum, which was secondary to interval migration of the gallstone from duodenum to jejunum. 

Exploratory laparotomy was performed on hospital day 5 and a 5 cm cholelith was removed from the jejunum, relieving the obstruction. The patient tolerated the procedure well. She was discharged the following day and was stable at follow up. 

Discussion
This case illustrates the uncommon diagnosis of Bouveret’s syndrome with subsequent gallstone migration into the jejunum resulting in gallstone ileus with the benefit of US, CT, XR, and MRI imaging modalities. There is an average of 7 days from symptom onset to surgery, with 9 days for this patient. As mortality and morbidity rates are high, early diagnosis of Bouveret’s syndrome is crucial, which can be challenging due to its non-specific presentation of abdominal pain and vomiting, and because gallstones are frequently radiolucent making them difficult to detect on CT. The classic Rigler’s triad (ectopic gallstone, pneumobilia, and SBO) associated with gallstone ileus is not always visualized on imaging. CT is the most accurate imaging test for diagnosis of Bouveret’s syndrome and is therefore the imaging test of choice, although US and MRI can be very helpful adjunct to aid in detecting radiolucent gallstones, as in this case.

Multiple Imaging Modalities of Bouveret's Syndrome with Further Gallstone Migration

Background: Primary aldosteronism is the most common cause of secondary hypertension. In patients with primary aldosteronism, CT imaging and adrenal vein sampling (AVS), a minimally invasive procedure, are common workups to determine lateralization of hormone production prior to adrenalectomy. This is an important distinction as the management varies based upon a unilateral versus bilateral nature as well as a realization that imaging alone may lead to inappropriate adrenalectomy. 

Case: Patient is a 66-year-old male diagnosed with primary aldosteronism after presenting with poorly controlled hypertension and persistent hypokalemia despite being on five antihypertensive medications and potassium supplementation. CT abdomen showed a 2 cm left sided adrenal nodule. He was referred to interventional radiology for AVS. Cosyntropin infusion was used to stimulate hormone production prior to sampling. Venous samples were collected from the left adrenal vein, right adrenal vein and IVC. Samples at each site were tested for cortisol and aldosterone levels. Lateralization index of right adrenal vein samples was 5.5, indicating right sided hypersecretion, discordant from the CT findings of a left sided nodule that was presumed to be the source of aldosteronism. Based on the AVS results, the patient instead underwent right sided adrenalectomy. Since surgery, his potassium has normalized without the need for supplementation and he is weaning off antihypertensive medications. 

Conclusion: Discrepancies in imaging and adrenal vein sampling, as described in this case, are common, therefore, patients with primary aldosteronism should undergo AVS to determine lateralization to guide further surgical or medical treatments. While CT has benefits, such as allowing assessment of nodules or masses that may be present as well as visualization of vascular anatomy, surgical intervention should not solely rely on imaging findings. 


Discordance Between Imaging and Adrenal Vein Sampling in Patient with Primary Aldosteronism


Persistent sciatic artery is a rare congenital malformation, with an incidence under 0.04%. The sciatic artery is a branch of the internal iliac artery, supplying the lower limb in the early embryonic stage. Normally, the sciatic artery involutes, while the superficial femoral artery becomes the major blood supply of the lower extremity. However, the absence of femoral artery development leads to the sciatic artery becoming the dominant blood supply.
Uterine artery embolization is widely used, has minimal morbidity and high technical success rates. However; in the few reported cases of patients undergoing Uterine artery embolization where a persistent sciatic artery wasn’t recognized, there was non-targeted embolization and failure to embolize the uterine artery. 
In the patient’s case, the uterine artery bifurcates off the persistent sciatic artery and is crucial to identify in order to properly conduct the uterine artery embolization. If this vascular variant was not properly identified it is possible that non-targeted embolization could have occurred leading to catastrophic consequences.



Uterine Artery Embolization in a Patient with a Persistent Sciatic Artery

Background: Mammary Paget’s Disease (MPD) of the nipple-areolar complex (NAC) is a rare disorder of the breast associated with an underlying carcinoma affecting 1-4% of breast cancer patients. The etiology of MPD is thought to arise from a malignant conversion of pluripotent keratinocyte stem cells or cells of apocrine gland ducts; that is supported by structural similarity between Paget and Toker cells – epithelial cells found in the NAC of 10% of women. MPD presents as eczematous patches of scaly tissue surrounding the NAC associated with tingling and pruritis. 

Case Presentation: Here we describe a 74-year-old patient with local recurrence of breast cancer >20 years following treatment. She initially presented with a right breast stage IA (cT1cN0M0) invasive ductal carcinoma involving right upper inner quadrant in year 2000. She was treated with partial mastectomy (PM) and sentinel lymph node biopsy (SLNB) followed by adjuvant whole breast radiation therapy and 2.5 years of adjuvant tamoxifen. She remained disease free until year 2022 when she presented with waxing and waning four-month history of skin irritation involving the right nipple. Exam demonstrated a small, 1 centimeter (cm), crusty erythematous rash. Initial trial of antibiotics did not improve symptoms. She underwent a punch biopsy which demonstrated MPD. Breast MRI showed a right NAC enhancement with a 0.5 cm mass at 12:00 o’clock position. Biopsy of the central mass demonstrated a grade 2 invasive ductal carcinoma, ER/PR+ without HER2 amplification. She underwent right mastectomy with SLNB with final pathology demonstrating stage IA disease (pT1apN0[sn]). 

Discussion: This case highlights a unique clinical sign for breast cancer recurrence despite a long period of remission. Several factors are associated with a high risk of late recurrence including ER+ tumors, diagnosis before the age of 40, treatment involving breast conserving surgery, 4 or more positive lymph nodes, and a T2 or higher tumor stage. It is challenging to know if the new breast cancer is recurrent or new primary, although management is similar. For patients with underlying malignancy, the rate of SLNB was 17% warranting nodal evaluation. MPD local recurrence has been shown to be common in patients who previously underwent nipple sparing mastectomy. Small, single institution, series found that patients with underlying MPD had worse survival compared to those without MPD. Unfortunately, no high quality, prospective, data exist to guide management for patients with MPD versus non-MPD recurrence; general approach includes SLNB followed by mastectomy; an alternative approach to mastectomy in women who recur a decade or two after initial PM and adjuvant radiation who are averse to mastectomy would be to repeat PM followed by partial breast radiotherapy. This case emphasizes the importance of early cancer surveillance to prevent delays in intervention.


Mammary Paget’s disease of the nipple as a sign of local recurrence two decades after properly treated breast cancer

Background: Mucinous Carcinoma of the breast is a rare subtype. It accounts for about 2% of all breast carcinomas. Mucinous Carcinomas are often mistakenly diagnosed as benign tumors. It is important to recognize the overlapping benign clinical, mammographic, sonographic and magnetic features to avoid delayed diagnosis.

Case Presentation: A 65-year-old African American woman presented with a palpable mass on her left breast. The patient had no family history or personal history of breast cancer prior to this appointment. The patient underwent a mammography, where the patient’s palpable mass was displayed as a high-density mass with well-defined margins. After the mammography, the patient had undergone both a breast MRI and an ultrasound guided biopsy, (which involved a biopsy marker clip in the palpable mass). The breast MRI showed the palpable mass with high signal intensity on T2 weighted imaging, and benign appearing kinetics. However, from the ultrasound guided biopsy, it was shown that the patient had Mucinous Carcinoma of the breast. After treatment, the patient chose to receive a mastectomy. 

Discussion: Mucinous Carcinoma of the breast is a rare subtype of breast cancer that typically occurs in women over 60 years old. It typically presents as a lump or mass in the breast. Mucinous Carcinomas tend to be larger in size compared to other breast cancers at the time of diagnosis. They often have well-defined borders and can be mobile within the breast tissue. Diagnosis of Mucinous Carcinoma of the breast typically involves imaging tests, such as mammography, and or ultrasound, along with a tissue biopsy. On mammography, ultrasound and magnetic resonance imaging (MRI), Pure Mucinous subtype presents as a well-circumscribed mass and, therefore, can be confused with a benign lesion. On MRIs, Pure Mucinous Carcinoma of the breast has higher diffusion coefficient values and therefore presents as high signal intensity T2-weighted imaging and benign-appearing kinetics with persistent enhancement. These MRI features could be difficult to distinguish from benign lesions, such as cysts fibroadenomas or intramammary lymph nodes and can often result in a delayed diagnosis. Knowledge of this is necessary because delayed diagnosis can lead to poorer health outcomes and health disparities in the future.


Mucinous Carcinoma of the Breast in a 65-Year-Old Woman

This clinial vignette explores the critical issue of uterine hemorrhagic rupture in cornual ectopic pregnancies, a rare but life-threatening condition. Cornual ectopic pregnancies are challenging to diagnose due to their location and can result in severe hemorrhage and hypovolemic shock if not detected early. This case presentation highlights the urgent need for prevention and intervention in such cases. This case also emphasizes the importance of considering social determinants of health, such as insurance and access to prenatal care, in patient care and research, as they can impact the course and outcomes of such conditions.

Uterine Hemorrhagic Rupture in Cornual Ectopic Pregnancy​

Case Presentation
A 2 year old female, ex-34 week preterm with a relevant family history of a male sibling with TTD and birth history of a TTD diagnosis, presents to the emergency department with feeding intolerance and episodic vomiting. Serially performed MRIs at 4 weeks old (corrected age of term birth) and 2 years old demonstrates progression of the condition. T1-weighted imaging presents with enlarged ventricles and significant hypointensity in areas of expected myelination. T2-weighted imaging displays significant hyperintensity in those same areas, suggestive of dysmyelination. Simplified gyral patterns were also observed. One week after the MRI, the patient had an overnight coughing episode resulting in her death, despite resuscitation efforts.

Discussion
TTD is a rare condition with a poor prognosis in children under 10 years old––a 20-fold higher risk of mortality than the general population, especially succumbing to infection. MRI performed on neonates as early as full term exhibits signs of dysmyelination in key structures such as the posterior third of the posterior limb of the internal capsule, ventrolateral nucleus of the thalamus and the optic radiations. Until 2 years of age, analysis of myelination of key structures can help monitor proper brain development. When physicians observe cortical atrophy and diffuse dysmyelination on MRI along with significant birth history, TTD should be included in the differential diagnosis.

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Which Came First: Bronchiectasis or IPF?