Fontan-Associated Protein-Losing Enteropathy and Plastic Bronchitis

Abstract

Objective Characterize the medical history, disease progression, and treatment of current-era patients with the rare diseases Fontan-associated protein losing enteropathy (PLE) and plastic bronchitis (PB). Study Design A novel survey that queried demographics, medical details, and treatment information was piloted and placed online via a Facebook portal allowing social media to power the study. Participation regardless of PLE or PB diagnosis was allowed. Case control analyses compared patients with PLE and PB to uncomplicated control Fontan patients. Results The survey was completed by 671 subjects including 76 with PLE, 46 with PB, and 7 with both. Median PLE diagnosis was 2.5 years post-Fontan. Hospitalization for PLE occurred in 71% with 41% hospitalized ≥ 3 times. Therapy varied significantly. PLE patients more commonly had hypoplastic left ventricle (62% vs 44% control; OR 2.8, 95% CI 1.4–5.5), chylothorax (66% vs 41%; OR 3.0, CI 1.6–5.3), and cardiothoracic surgery in addition to staged palliation (17% vs 5%; OR 4.3, CI 1.6, 11.2). Median PB diagnosis was 2 years post-Fontan. Hospitalization for PB occurred in 91% with 61% hospitalized ≥3 times. Therapy was very diverse. PB patients more commonly had chylothorax at any surgery (72% vs 51%; OR 2.5, CI 1.2–5.1) and seasonal allergies (52% vs 36%; OR 2.0, CI 1.0–3.9). Conclusions Patient-specific factors are associated with diagnoses of PLE or PB. Treatment strategies are diverse without clear patterns. These results provide a foundation upon which to design future therapeutic studies and identify a clear need for forming consensus approaches to treatment.

Patients and their family members prioritize post‐transplant survival over waitlist survival when considering donor hearts for transplantation

“…The survey questions were not validated prior to distribution, and therefore, interpretation of the questions across respondents may have varied. Social media is increasingly utilized as a tool to facilitate clinical research and has distinct advantages in the study of rare diseases . The large number of responses to our survey likely would not have been possible without harnessing the power of social media to reach the population of interest.…”

“Frontiers in Fontan failure: A summary of conference proceedings”

“…While survival has previously been reported at 50% at 5‐years, newer studies have shown that survival closer to 80% at 8 years is possible . Newer treatment options such as thoracic duct ligation and transcatheter selective lymphatic embolization have been developed and may be beneficial in refractory cases . Finally, thromboembolism, bleeding, renal dysfunction, and obesity are other complications of Fontan physiology that can adversely affect long‐term outcomes …”

Percutaneous embolization of lymphatic fistulae as treatment for protein‐losing enteropathy and plastic bronchitis in patients with failing Fontan circulation

“…1,4 There are many similarities to plastic bronchitis (PB) which occurs in 4-14% of Fontan patients and may present by itself or in combination with PLE. 5,6 Several medical and surgical strategies have been employed to treat PLE and PB, all with variable but modest degrees of success. 1,4,7,8 The role of the lymphatic system has been largely ignored in the management of the failing Fontan.…”