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The aim of the study was the estimation of diagnostic value abdominal ultrasonography in recurrent attacks the patients suffering from hereditary angioedema. The retrospective analysis was done in 150 patients with C1 inhibitor deficiency and abdomen attack of angioedema connected with this. In 55 patients severe 2-3 days longlasting abdomen attacks with nausea, diarrhoea and weakening were the first symptoms of the illness and causing particular diagnostic problem. In 95 remaining patients abdomen attack appeared in the course of illness manifesting external angioedema of hands, feets, face, genitalia or larynx. The frequency of abdominal attacks was different from 1-15/year. Diagnostic problem was the reason of laparotomy in 19.3% of patients which did not explain the reason of symptoms. Only in 23 % of patients US of abdomen was done, which revealed the presence of ascites, which disappeared together with abdomen symptoms. US often allowed to show the place of regional angioedema usually in the most cases in intestine wall.
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PMID:[Recurrent abdominal pain and ascites in patients suffering from congenital angioedema due to C1 inhibitor deficiency. Retrospective analysis]. 2394

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.
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PMID:Gastrointestinal manifestations of hereditary angioedema diagnosed by ultrasound in the emergency department. 2549 23

BACKGROUND Hereditary angioedema (HAE) is an autosomal disease caused either by deficiency or presence of a non-functioning C1 inhibitor. The lack or non-functionality of said inhibitors leads to activation of an inflammatory cascade, which result in cutaneous and mucosal edema. Most patients with HAE present with either cutaneous, laryngeal/pharyngeal, or gastrointestinal exacerbations. An uncommon gastrointestinal manifestation of HAE is an intussusception, which in most cases require invasive/surgical management. CASE REPORT A 17-year-old Hispanic female patient with past medical history of HAE, presented with a 4-day history of episodic abdominal pain, worsening during the last 2 days with associated nausea, vomiting, and bright red blood per rectum. The abdominal ultrasound performed at our institution showed an elongated region of hypoechoic and hyperechoic concentric rings, raising suspicion of an intussusception. The patient was treated conservatively, with 30 mg of ecallantide and a unit of fresh frozen plasma (FFP). Follow-up abdominopelvic computed tomography scan was performed approximately 20 hours after the administration of fresh frozen plasma revealing complete interval resolution of the colo-colonic intussusception. Subsequently, the patient was kept under hospital care for the next 4 days with adequate progression of diet and without recurrence of intussusception. CONCLUSIONS To the best of our knowledge, most cases of patient with HAE presenting with intussusception have been treated with invasive/surgical procedures. In our case, conservative management has proven successful to reduce edema with subsequent non-surgical reduction of the intussusception. By directly targeting the pathophysiologic aspects of HAE, an unnecessary invasive procedure, as well as its potential complications, were avoided.
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PMID:Non-Surgical Management of Colo-Colonic Intussusception in Patients with Hereditary Angioedema. 3030 75

Abdominal pain due to intestinal swellings is one of the most common manifestations in hereditary angioedema (HAE). Bowel swellings can cause severe abdominal pain, nausea, vomiting, and diarrhea, which may lead to misdiagnosis of gastrointestinal disorders. In rare cases, HAE abdominal attacks can be accompanied by acute pancreatitis. Here, we report 3 patients with HAE and acute pancreatitis and present a literature review of similar cases. Patients with confirmed diagnosis of HAE secondary to C1-inhibitor (C1-INH) deficiency (n = 2) and HAE with normal C1-INH and F12 mutation (F12-HAE) (n = 1) were included. Pancreatitis was diagnosed based on clinical symptoms and high lipase and amylase levels. Three HAE patients were diagnosed with acute pancreatitis based on increased amylase levels during severe abdominal swelling episodes. Two were previously diagnosed with HAE type I and one with F12-HAE. Pancreatitis was efficiently treated in two patients using Icatibant, with pain relief within hours. When conservatively treated, pancreatitis pain took longer time to resolve. Eighteen pancreatitis cases in HAE with C1-INH deficiency were previously reported and none in F12-HAE. Most patients (12/18) underwent invasive procedures and/or diagnostic methods. Although rare, severe abdominal HAE attacks could cause pancreatitis; HAE-specific treatments may be efficient for HAE-associated pancreatitis. HAE should be considered as a differential diagnosis of acute idiopathic pancreatitis. To our knowledge, this is the first report of HAE-associated pancreatitis in a F12-HAE patient treated with Icatibant.
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PMID:Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. 3105 56

Idiopathic anaphylaxis (IA) is defined as anaphylaxis without any identifiable precipitating agent or event. The clinical manifestations of IA are the same as allergen-associated (immunologic) anaphylaxis and include urticaria, angioedema, hypotension, tachycardia, wheezing, stridor, pruritus, nausea, vomiting, flushing, diarrhea, dysphagia, light-headedness, and loss of consciousness. Patients usually tend to have the same manifestations on repeated episodes. IA is a prednisone-responsive disease that is ultimately a diagnosis of exclusion. Approximately 40% of patients are atopic. Serum tryptase (or urine histamine or its metabolite) will be elevated acutely, but, if elevated in the absence of anaphylaxis, should suggest alternative diagnoses, including indolent systemic mastocytosis. A focused history, examination, and follow-up will dictate whether a patient's symptoms may be attributable to disorders that mimic anaphylaxis, such as indolent systemic mastocytosis, carcinoid syndrome, pheochromocytoma, hereditary angioedema or acquired C1 esterase inhibitor deficiency, or panic attacks. The presence of urticaria may help limit the differential diagnosis because urticaria does not usually accompany any of the above-mentioned disorders, except for indolent systemic mastocytosis. IA is classified according to the symptoms as well as the frequency of attacks. Patients who experience six or more episodes in a year, or two or more episodes in 2 months are classified as having IA-frequent (IA-F). Patients who experience fewer episodes are classified as having IA-infrequent (IA-I). This distinction is important because patients with IA-F will initially require prednisone as disease-modifying therapy, whereas most patients who with IA-I will not require prednisone. Patients with IA must carry and know when and how to self-administer epinephrine.
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PMID:Idiopathic anaphylaxis. 3169 Mar 94

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.
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PMID:Ultrasound findings in an abdominal crisis of a patient with hereditary angioedema. 3233 26

Hereditary angioedema (HAE) is a rare, autosomal dominant disease caused by a deficiency in the C1-inhibitor protein. It is characterized by recurrent episodes of nonpruritic, nonpitting, subcutaneous or submucosal edema that typically involves the extremities or the gastrointestinal tract. However, the genitourinary tract, face, oropharynx, and/or larynx may be affected as well. Symptoms often begin in childhood, worsen at puberty, and persist throughout life, with unpredictable severity. Patients who are untreated may have frequent attacks, with intervals that can range from every few days to rare episodes. Minor trauma and stress are frequent precipitants of swelling episodes, but many attacks occur without clear triggers. HAE attacks may be preceded by a prodrome and/or be accompanied by erythema marginatum. The swelling typically worsens over the first 24 hours, before gradually subsiding over the subsequent 48 to 72 hours. Although oropharyngeal swelling is less frequent, more than half of patients have had at least one episode of laryngeal angioedema during their lifetime. Attacks may start in one location and spread to another before resolving. HAE attacks that involve the abdomen or oropharynx have been associated with significant morbidity and mortality. Abdominal attacks can cause severe abdominal pain, nausea, and vomiting. Bowel sounds are often diminished or silent, and guarding and rebound tenderness may be present on physical examination. These findings may lead to unnecessary abdominal imaging and procedures. Fluid shifts into the interstitial space or peritoneal cavity can cause clinically significant hypotension. Laryngeal edema poses the greatest risk for patients with HAE. Although prompt diagnosis and treatment improves outcomes, the variable presentation of HAE can make it difficult to diagnose.
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PMID:Clinical presentation of hereditary angioedema. 3310 20


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