Demographic Characteristics and Estimated Prevalence of Fontan-Associated Plastic Bronchitis

Caruthers, Regine L.; Kempa, Mollie; Loo, Angela; Gulbransen, Erin; Kelly, Elizabeth M.; Erickson, Steven R.; Hirsch, Jennifer C.; Schumacher, K.; Stringer, Kathleen A.

doi:10.1007/s00246-012-0430-5

Cited by 98 publications

(77 citation statements)

References 20 publications

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“…PLE is estimated to occur in 1% to 11% of Fontan patients, whereas PB is estimated to occur in 1% to 5%. [3][4][5][6] Although the true prevalence of PLE and PB is unknown, based on single ventricle heart disease incidence and post-Fontan survival rates, PLE and PB are likely exceedingly rare diseases with a prevalence of ,2000 patients in the United States. As such, both PLE and PB are poorly understood; disease knowledge stems largely from case reports.…”

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confidence: 99%

Social Media Methods for Studying Rare Diseases

Stringer²,

et al. 2014

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For pediatric rare diseases, the number of patients available to support traditional research methods is often inadequate. However, patients who have similar diseases cluster "virtually" online via social media. This study aimed to (1) determine whether patients who have the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB) would participate in online research, and (2) explore response patterns to examine social media' s role in participation compared with other referral modalities. A novel, internetbased survey querying details of potential pathogenesis, course, and treatment of PLE and PB was created. The study was available online via web and Facebook portals for 1 year. Apart from 2 study-initiated posts on patient-run Facebook pages at the study initiation, all recruitment was driven by study respondents only. Response patterns and referral sources were tracked. A total of 671 respondents with a Fontan palliation completed a valid survey, including 76 who had PLE and 46 who had PB. Responses over time demonstrated periodic, marked increases as new online populations of Fontan patients were reached. Of the responses, 574 (86%) were from the United States and 97 (14%) were international. The leading referral sources were Facebook, internet forums, and traditional websites. Overall, social media outlets referred 84% of all responses, making it the dominant modality for recruiting the largest reported contemporary cohort of Fontan patients and patients who have PLE and PB. The methodology and response patterns from this study can be used to design research applications for other rare diseases. Pediatrics 2014;133:e1345-e1353 AUTHORS:

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Social Media Methods for Studying Rare Diseases

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et al. 2014

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“…We also found areas of cellularity and notable acellular regions by hematoxylin and eosin (H&E) staining of cast sections. In addition, our clinical observation has been that airway cast production and expectoration is sporadic, suggesting an inflammatory trigger (9). Although there is no evidence of an infectious etiology (7,8), infection or inflammation seems to precipitate disease exacerbations (9).…”

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confidence: 87%

“…As such, knowledge of the natural history and pathogenesis of the disease is extremely limited. This has hindered our ability to identify and provide effective treatment to these children, which is particularly troublesome because PB in children with Fontan physiology is associated with a high mortality rate, repeated hospitalizations and procedures, and enhanced health care costs, and takes a high emotional toll on these children and their families (9).…”

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Immunophenotyping and Protein Profiling of Fontan-associated Plastic Bronchitis Airway Casts

et al. 2013

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Rationale: Plastic bronchitis (PB) is a rare and deadly condition that is characterized by the formation of airway casts. It most frequently occurs in children with underlying congenital heart disease that has been surgically palliated by the Fontan procedure. The Fontan circulation results in above-normal central venous pressure, and it has been hypothesized that the formation of airway casts is due to lymph leak. Knowledge of plastic bronchitis pathogenesis is poor and stems mostly from published case reports.Objectives: To garner information about cast pathogenesis by characterizing inflammatory cell phenotypes in existing formalin-preserved, paraffin-embedded samples and generating protein and cytokine-chemokine profiles of airway cast homogenates.Methods: We used immunofluorescence confocal microscopy, state-of-the-science proteomics, and a cytokine array assay to immunophenotype cellular content and to generate protein and cytokine profiles of plastic bronchitis airway casts, respectively.Measurements and Main Results: Neutrophils, eosinophils, macrophages, and B lymphocytes were identified in cast samples; there were notably fewer T lymphocytes. Fibrin(ogen) was an abundant protein in the cast proteome. Histone H4 was also abundant, and immunofluorescence microscopy demonstrated it to be mostly extracellular. The cytokine profile of plastic bronchitis casts was proinflammatory.Conclusions: Plastic bronchitis airway casts from children with Fontan physiology are composed of fibrin and are cellular and inflammatory in nature, providing evidence that their formation cannot be explained simply by lymph leak into the airways. Consequences of cellular necrosis including extracellular histones and the apparent low number of T cells indicate that a derangement in inflammation resolution likely contributes to cast formation.

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“…Caruthers et al 1 described possible causes as increased pulmonary vascular pressures or valve dysfunction, which injure the alveolar-capillary barrier, or lymphatic dysfunction due to injury during surgery.…”

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confidence: 99%

“…Rarely, the sound of a flag snapping, or a mucus plug hitting an airway surface, may be heard. 1,2 Radiologic findings are also typically non-specific. Currently, PB is diagnosed definitively only when a bronchial cast in an easily recognizable branching tree pattern is expectorated or visualized by bronchoscopy.…”

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confidence: 99%

Plastic Bronchitis in a Post-Fontan Pediatric Patient With Normal Hemodynamics: A Case Report

Wilson¹,

Swaminathan²,

Ferris³

2015

AMSRJ

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Plastic bronchitis (PB) is a relatively unknown condition where mucin or fibrin casts develop in the bronchial tree resulting in airway obstruction. It is commonly seen within the realms of pediatric cardiology and pulmonology. Some common etiologies include sickle cell disease, asthma, cystic fibrosis, and congenital heart disease. Mortalities of PB cases associated with congenital heart disease range from 29% to 60%.A five-year-old patient with single ventricle physiology underwent the Fontan procedure and presented with PB after two months, earlier than the reported mean of 2.2 years to 2.8 years.1,2 He had normal hemodynamics on cardiac catheterization and casts with an unusual histology. Our case is unique because a majority of post-Fontan PB had acellular mucinous casts, but our patient's casts consisted of mucin, fibrin, and inflammatory cells. Secondly, our patient had normal extra-cardiac Fontan mean pressure of 11 mmHg, which is lower than the average Fontan mean pressure described in the literature.Our case highlights respiratory tract inflammation as a trigger for PB episodes in the setting of normal pulmonary artery pressure (PAP). Thus, we propose keeping in mind other risk factors for PB following Fontan procedure despite normal PAP so that early bronchoscopy will be performed, and therapies can be started as soon as possible. Finally, the utility of prophylactic antimicrobials to prevent PB episodes for patients with normal BP should be investigated.Plastic bronchitis (PB) is a relatively unknown condition where mucin or fibrin casts develop in the bronchial tree resulting in airway obstruction. It is commonly seen within the realms of pediatric cardiology and pulmonology and some common etiologies include sickle cell disease, asthma, cystic fibrosis, and congenital heart disease. Long-term mortalities of PB cases associated with congenital heart disease range from 29% reported by Brogan et al. 4 to 33% reported by Madsen et al., 8 and acute mortalities are as high as 60% (3 out of 5 patients reported by Seear et al.).3 Median time to death from PB diagnosis is 0.4 years.2 This case presentation is an opportunity to educate the medical community on early recognition of PB as early diagnosis and treatment are key to reducing its high mortality rate. Prior to diagnosis, patients with PB present

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Demographic Characteristics and Estimated Prevalence of Fontan-Associated Plastic Bronchitis

Cited by 98 publications

References 20 publications

Social Media Methods for Studying Rare Diseases

Social Media Methods for Studying Rare Diseases

Immunophenotyping and Protein Profiling of Fontan-associated Plastic Bronchitis Airway Casts

Plastic Bronchitis in a Post-Fontan Pediatric Patient With Normal Hemodynamics: A Case Report

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