Abdominal hereditary angio-oedema caught on magnetic resonance imaging.

A 17-year-old woman presented with a 3-year history of recurrent, severe abdominal pain with spontaneous resolution within a few days. An ultrasound revealed nothing more than free fluid within the pelvis. An MRI of the small bowel was done within 24 hours of abdominal pain onset, which revealed extensive submucosal oedema associated with moderate volume ascites. A repeat MRI of the small bowel after 72 hours showed near-complete resolution of these changes. Checking C1 inhibitor levels confirmed a diagnosis of hereditary angio-oedema with an abdominal presentation. This is a rare cause of recurrent abdominal pain and, to our knowledge, the first case in which MR images have been obtained during and after an acute attack.

Hallazgos ecográficos en una crisis abdominal de un paciente con angioedema hereditario / No disponible

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Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema.

ereditary Angioedema (HAE) is a rare autosomal-dominant disease caused by serum C1 inhibitor deficiency. This deficiency leads to an up-regulation of complement, activating the bradykinin pathway and causing vascular permeability and subsequent mucosal edema. Abdominal angioedema is a less recognized type of angioedema and the clinical signs may range from subtle, diffuse abdominal pain and nausea, to overt peritonitis. We describe one case of abdominal angioedema in a patient with known HAE that were diagnosed by ultrasound.

Emergency Department Management of Hereditary Angioedema Attacks: Patient Perspectives.

BACKGROUND: Emergency department (ED) management of hereditary angioedema (HAE) has been hindered by misdiagnosis and limited treatment options. Food and Drug Administration approval of 4 on-demand HAE therapies starting in 2009 and the publication of ED guidelines for angioedema management in 2014 should facilitate improvement of HAE management in the ED. OBJECTIVE: The objective of this study was to identify patient-reported areas for improvement in ED management of HAE attacks. METHODS: Patients with self-reported HAE with C1 inhibitor deficiency who attended the 2015 HAE Association Patient Summit were asked to complete an anonymous 30-question survey. Questions addressed patient characteristics and HAE management in the ED. RESULTS: Patients indicated that understanding of HAE in the ED needed improvement (99%, 104 of 105 patients). Recognition of HAE as a diagnosis (48%, 50 of 105 patients), appreciation of HAE as a serious disease (45%, 47 of 105 patients), and medication management (59%, 62 of 105 patients) were identified as areas needing improvement. Among 39 patients who required ED care within the last year, 6 did not receive any HAE-targeted therapy, and treatment with corticosteroids (n = 3), epinephrine (n = 2), and antihistamines (n = 7) was reported. Among 68 patients whose treatment plan was to receive home on-demand therapy, 26 required ED care because of an inability to receive on-demand therapy at home as outlined in their treatment plan. Having a treatment plan was associated with a greater likelihood of receiving HAE therapy in the ED (99% vs 74%, P = .002). CONCLUSION: HAE management in the ED can be improved with a focus on recognition of HAE attacks and administration of effective HAE therapies.

Gastrointestinal manifestations of hereditary angioedema diagnosed by ultrasound in the emergency department.

Abdominal angioedema is a less recognized type of angioedema, which can occur in patients with hereditary angioedema (HAE). The clinical signs may range from subtle, diffuse abdominal pain and nausea, to overt peritonitis. We describe two cases of abdominal angioedema in patients with known HAE that were diagnosed in the emergency department by point-of-care (POC) ultrasound. In each case, the patient presented with isolated abdominal complaints and no signs of oropharyngeal edema. Findings on POC ultrasound included intraperitoneal free fluid and bowel wall edema. Both patients recovered uneventfully after receiving treatment. Because it can be performed rapidly, requires no ionizing radiation, and can rule out alternative diagnoses, POC ultrasound holds promise as a valuable tool in the evaluation and management of patients with HAE.

C1-esterase inhibitor deficiency in pediatric heart transplant recipients: incidence and findings on ultrasound.

BACKGROUND: Acquired angioedema of the bowel caused by a deficiency of C1-esterase inhibitor can lead to severe abdominal pain with sudden onset, mimicking an acute surgical abdomen. In contrast to hereditary angioedema, which usually manifests in childhood, acquired angioedema is broadly recognized to affect people older than 40 years. OBJECTIVE: To determine the incidence of acquired angioedema in a cohort of pediatric heart transplant recipients and assess imaging findings on ultrasonography. MATERIALS AND METHODS: A cohort of 207 children and adolescents who had undergone heart transplantation were assessed at regular follow-up examinations for incidence of acquired angioedema. All patients received ACE inhibitors and immune inhibitors. Control examinations carried out in 3-month intervals included history, assessment of clinical symptoms, physical examination, US of the abdomen and laboratory blood analysis. In addition, if clinical symptoms were newly encountered, children were admitted between regularly scheduled intervals. We analyzed results of abdominal US for pathological findings of the bowel, and we assessed imaging findings in children diagnosed with acquired angioedema. RESULTS: Acquired angioedema was diagnosed in 3/207 patients (2 girls ages 16 and 17 years and 1 boy age 9 months). These children presented with sudden onset of severe abdominal pain. The bowel wall was thickened in the presence of ascites. After a mean of 72 h, abdominal pains resolved. Thickening of bowel loops dissolved and ascites disappeared. CONCLUSION: Single episodes of acquired angioedema were encountered in 1.4% of our series of pediatric heart transplant recipients. Radiologists should be familiar with this disease so they can diagnose it on US imaging.

Usefulness of abdominal ultrasonography in the follow-up of patients with hereditary C1-inhibitor deficiency.

BACKGROUND: Hereditary angioedema (HAE) is caused by the deficiency of functional C1 inhibitor. Symptoms of this disease include cutaneous angioedema, abdominal pain, and even laryngeal edema. OBJECTIVE: To evaluate the usefulness of abdominal ultrasonography in patients with hereditary C1-inhibitor deficiency in diagnosing acute abdominal edema attacks and possible adverse effects of long-term prophylaxis with attenuated androgens. METHODS: Fifty-nine adult patients with HAE regularly observed in our department were included whether they were symptomatic or not and whether they received long-term androgen prophylaxis or not. We evaluated the ultrasonographic findings in the assessments performed routinely or in the moment of an acute abdominal attack. RESULTS: Of the 59 patients, 55 ever had any symptom due to HAE (abdominal location, 78% of the symptomatic patients); 4 patients were asymptomatic. In 11 cases, ultrasonography was performed during acute attacks. Ascites and intestinal wall swelling were found in 7 of these 11 cases and, thus, diagnosis was confirmed. Of the 59 patients, 33 were or had been receiving androgen prophylaxis. Abdominal ultrasonographic assessments were performed routinely in 31 of these patients. Four cases of angiomas, 4 of steatosis, and 1 each of portal hypertension, hepatic cysts, and hepatomegaly were found. Assessments were also performed in 17 patients who did not receive androgen prophylaxis; there were no findings in any of these patients. CONCLUSION: Abdominal ultrasonography has been proved useful as an early tool for diagnosing the adverse effects of therapy and for confirming diagnosis in the case of an acute abdominal attack.

Computed tomography of the gastrointestinal manifestation of hereditary angioedema.

We report a case of gastrointestinal manifestation of hereditary angioedema. Computed tomography (CT) revealed wall thickening of the gastric antrum, duodenum, and jejunum. Dilatation of the third part of the duodenum, thickening of the small bowel mesentery and omentum, and retroperitoneal edema were present. The importance of considering this condition in patients presenting such CT findings correlated with the appropriate history is discussed.