Faculty Bibliography

BACKGROUND:We conducted our first patient survey at the 2013 hereditary angioedema (HAE) patient summit and learned that, despite several novel therapies, the burden of disease was high. OBJECTIVE:To determine, from the patient's perspective, if any improvements in the current state of HAE care occurred over a two-year period between HAE patient summits. METHODS:A patient survey was conducted at the 2015 Hereditary Angioedema Association conference by using paper surveys that aimed at understanding the current state of HAE care. Questions included patient characteristics, burden of disease, and satisfaction with care and treatment options. Comparisons between patients with HAE with C1-inhibitor (HAE-C1INH) and patients with HAE with normal C1-inhibitor (HAE-nlC1INH), as well as between patients with HAE in 2013 and 2015, were performed by using χ2 tests. RESULTS:There were 232 surveys distributed, and 143 surveys were identified as complete for inclusion and analysis from patients with self-reported HAE. Most patients had type I or type II HAE (67.5% [n = 106]), with a smaller number of patients with HAE-nlC1INH (23.6% [n = 37]). In 2015, almost half of the patients with HAE-C1INH (47.1%) and 56.7% of the patients with HAE-nlC1INH experienced a delay of ≥10 years between initial symptoms and diagnosis. Among the patients with HAE-C1INH, 25% reported one or more attacks per week and another 48% reported experiencing one or more attacks per month (fewer than one attack per week). The patients with HAE-nlC1INH reported attacks more frequently than did the patients with HAE-C1INH (p = 0.002), with 59.5% who reported attacks at least once a week. Emergency care was reported one or more times per month in 5% of the patients with HAE-C1INH and in 24.3% of the patients with HAE-nlC1INH. CONCLUSION/CONCLUSIONS:Similar to 2013, although significant progress has been made, there is still a high burden of disease that faces patients with HAE.

Hereditary angioedema (HAE) is a chronic disease with a high burden of disease that is poorly understood and often misdiagnosed. Availability of treatments, including C1 esterase inhibitor (C1INH) replacement, ecallantide, and icatibant, marks a significant advance for HAE patients. We aimed to better understand the current state of HAE care, from a patient perspective, after the introduction of several novel therapies. One session of the United States Hereditary Angioedema Association 2013 patient summit was devoted to data collection for this study. Patients attending the summit were self-selected, and HAE diagnosis was self-reported. Survey questions assessed patient characteristics, burden of disease, and treatment. Participant responses were captured using an audience response system. We surveyed 149 (80%) type I and II HAE (HAE-C1INH) and 37 (20%) HAE with normal C1INH (HAE-nlC1INH) patients. HAE-C1INH (72%) and HAE-nlCINH patients (76%) equally reported that HAE had a significant impact on quality of life (QOL). A third of HAE-C1INH patients were diagnosed within one year of their first HAE attack, but another third reported a delay of more than 10 years. Most HAE-C1INH (88%) and HAE-nlC1INH (76%) patients had on-demand treatment available. HAE-C1INH patients frequently had an individual treatment plan (76%) compared with 50% of HAE-nlC1INH patients. Most HAE-C1INH patients went to the emergency department (ED) or were hospitalized less than once every six months (80%). Our findings show that HAE management is improving with good access to on-demand and prophylactic treatment options. However, HAE patients still have a significant burden of disease and continued research and educational efforts are needed.

Office endoscopy is an accepted safe alternative to in-hospital care. Attention to detail will help to ensure that the vast majority of procedures will be successfully completed without incident. Although there are regional differences, in many parts of North America office endoscopy has become mainstream, and is preferred for common procedures. However, quality endoscopy is more complex than clean scopes and clean rooms. This article highlights many issues that serve to make office endoscopy a safe alternative to in-hospital procedures.

Pharmacologic management for ulcerative colitis (UC) has recently been expanded to include anti- tumor necrosis factor (TNF) therapy for severe disease. Infliximab, a chimeric monoclonal antibody directed again TNF alpha was first tested in patients with Crohn's disease. In addition to serious infections, malignancy, drug induced lupus and other autoimmune diseases, serum sickness-like reactions, neurological disease, and infusion reactions further complicate the use of Infliximab. We report a case of prolonged fever after Infliximab infusion to treat steroid refractory UC.

A patient is presented here who had gastric sarcoidosis which was initially diagnosed as Menetrier's disease. The English medical literature comprises 19 cases with symptomatic gastric sarcoidosis, and these are reviewed. The clinical, roentgenographic, and endoscopic findings in gastric sarcoidosis are quite variable, but of the symptomatic patients, 75% present with pain and 25% with bleeding; surgery is required in 50% of patients, while of those treated with corticosteroids, 66% improve symptomatically. Endoscopic biopsies are accurate and essential in establishing the diagnosis.

The present study of metronidazole in perineal Crohn's disease includes 26 patients, and is composed of 17 of 21 patients who were previously reported and 9 additional consecutive patients. The course of these patients was evaluated to determine if the drug could be reduced or stopped, whether or not it continued to be effective for prolonged periods, and what long-term side effects were encountered. Dosage reduction was associated with exacerbation of disease activity in all patients, but in all, the perineal manifestations of disease healed promptly when the full dosage of metronidazole was reinstituted. The drug could be successfully discontinued in only 28% of those in whom cessation was attempted; in those patients whose perineal disease worsened with cessation of therapy, rapid healing was achieved if the drug was reintroduced. Sixteen patients received metronidazole for at least 12 mo including 7 for 18-36 mo. Eight of these 16 patients, including 4 on and 4 off the drug, remain healed; the other 8 patients had advanced healing. The only major side effect observed was paresthesias. These occurred in 50% of the patients and developed in the patients at a mean of 6.5 mo after the onset of treatment. They appeared to be dose related and nonprogressive but tended to persist for prolonged periods even after discontinuance of the drug.