Gastrointestinal Manifestations, Diagnosis, and Management of Hereditary Angioedema

Jalaj, Sujai; Scolapio, James S.

doi:10.1097/mcg.0b013e31829e7edf

Cited by 32 publications

(47 citation statements)

References 15 publications

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“…3) [21] with at least 50% of attacks involving the abdomen [44]. If a patient with a prior diagnosis of HAE presents with abdominal pain and/or swelling, gastrointestinal angioedema should be considered in the differential diagnosis, even if the patient has not previously experienced similar attacks [45]. In cases with no prior diagnosis of HAE, a differential diagnosis is much more difficult.…”

Section: Reviewmentioning

confidence: 99%

Angioedema in the emergency department: a practical guide to differential diagnosis and management

et al. 2017

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BackgroundAngioedema is a common presentation in the emergency department (ED). Airway angioedema can be fatal; therefore, prompt diagnosis and correct treatment are vital.Objective of the reviewBased on the findings of two expert panels attended by international experts in angioedema and emergency medicine, this review aims to provide practical guidance on the diagnosis, differentiation, and management of histamine- and bradykinin-mediated angioedema in the ED.ReviewThe most common pathophysiology underlying angioedema is mediated by histamine; however, ED staff must be alert for the less common bradykinin-mediated forms of angioedema. Crucially, bradykinin-mediated angioedema does not respond to the same treatment as histamine-mediated angioedema. Bradykinin-mediated angioedema can result from many causes, including hereditary defects in C1 esterase inhibitor (C1-INH), side effects of angiotensin-converting enzyme inhibitors (ACEis), or acquired deficiency in C1-INH. The increased use of ACEis in recent decades has resulted in more frequent encounters with ACEi-induced angioedema in the ED; however, surveys have shown that many ED staff may not know how to recognize or manage bradykinin-mediated angioedema, and hospitals may not have specific medications or protocols in place.ConclusionED physicians must be aware of the different pathophysiologic pathways that lead to angioedema in order to efficiently and effectively manage these potentially fatal conditions.

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Section: Reviewmentioning

confidence: 99%

Angioedema in the emergency department: a practical guide to differential diagnosis and management

et al. 2017

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“…1,8,10,11 In Turkey, the diagnostic delay is more than twice what has been reported in the most recent European survey, and is as high as 26 years. 9 Considering these data, it is clear that improvements in the diagnosis of HAE are necessary worldwide.…”

Section: Discussionmentioning

confidence: 85%

“…5,6 The rarity of the disease, together with frequent misdiagnosis of the symptoms as allergic/anaphylactic angioedema, acute abdominal disorder or Familial Mediterranean Fever (FMF), means that while HAE symptoms often begin in early childhood and persist throughout patients' lives, awareness of the condition is extremely low and diagnosis is frequently delayed. [7][8][9] Failure to recognize HAE and to establish a correct diagnosis is well documented. 1,6,10,11 In a recent international survey it has been reported that patients visited an average of 4.4 different physicians for their symptoms before their condition was properly diagnosed.…”

mentioning

confidence: 99%

How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

Gökmen¹,

Gülbahar²,

Koç³

et al. 2015

Turkiye Klinikleri J Med Sci

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H ereditary angioedema (HAE) is a rare but serious genetic disorder characterized by angioedema attacks in the skin, gastrointestinal tract and upper airway that can be spontaneous or the result of var- The questionnaire included HAE-related questions as well as demographic items. R Re es su ul lt ts s: : Most doctors (93.5%) reported that they had heard of HAE, and 41.9% had followed at least one patient with HAE, however, 22% of them understood the role of C1 inhibitor in HAE, but 38.7% had no idea about HAE pathogenesis. The only fatal symptom, laryngeal edema, was named by 18% of respondents. Five percent of the respondents knew C4 level was the screening test; 6% knew that C1-INH level/function analysis is necessary for diagnosis. Approximately 10.3% of respondents knew an effective treatment for acute attacks; 18.7% knew a long-term prophylactic therapy. C Co on nc cl lu us si io on n: : We concluded that although most internists are aware of HAE, they are not knowledgeable enough to diagnose and manage the disease. K Ke ey y W Wo or rd ds s: : Angioedemas, hereditary; complement c1 inhibitor protein; physicians; internal medicine; knowledge; awareness Ö ÖZ ZE ET T A Am ma aç ç: : Herediter anjiyoödem (HA), deride, gastrointestinal sistemde ve larinkste tekrarlayıcı şişlik ataklarıyla seyreden nadir, genetik bir hastalıktır. Larinks atakları özellikle tanı almamış ya da hatalı tanı konmuş hastalarda ölümcül olabilmektedir. Türkiye'de HA tanısı ortalama 26 yıl kadar gecikmiş durumdadır. Bu çalışma, ülkemiz hekimlerinin HA'dan ne ölçüde haberdar olduklarını araştır-mak için tasarlanmıştır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : 14. Ulusal İç Hastalıkları Kongresi'ne katılan 155 iç hastalıkları uzmanına bu hastalıkla ilgili 20 soru yöneltilerek hastalık hakkındaki bilgileri değerlen-dirilmiştir. B Bu ul lg gu ul la ar r: : Hekimlerin önemli bir kısmı (%93,5) HA'yı duyduğunu ve %41,9'u en az bir HA hastası takip ettiğini bildirmekle birlikte, sadece %22'si HA'da C1 inhibitörün rolünün ne olduğunu biliyor iken %38,7'si HA'nın patogenezi hakkında bir fikre sahip değildi. Hastalığın fatal semptomu olan larinks ödemi, ankete katılanların %18'i tarafından biliniyordu. Katılımcıların %5'i C4'ün tarama testi olduğunu, %6'sı C1 inhibitör düzey/işlevinin tanı için gerekli olduğunu biliyordu. Ankete katılanların %10,3'ü akut atakların tedavisinde kullanılan bir ilacın varlığından haberdar iken, %18,7'si uzun süreli profilakside ne kullanılacağı hakkında fikir sahibi idi. S So on nu uç ç: : Bu çalışmada, iç hastalık-ları uzmanlarının çoğunun bu hastalıktan haberdar olduğu, ancak bu hastalığa tanı koyma ve hastalığın tedavisini yönetme açısından yeterli bilgiye sahip olmadıkları sonucuna varılmıştır.A An na ah h t ta ar r K Ke e l li i m me e l le er r: : Anjiyoödemler, herediter; kompleman C1 inhibitör protein; doktorlar; iç hastalıkları; bilgi; farkındalık T Tu ur rk ki iy ye e K Kl li in ni ik kl le er ri i J J M Me ed d S Sc ci i 2 20 01 15 5; ;3 35 5( (2 2) ): :6 67 7--7 72 2

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“…These patients are very likely to be referred to a Gastroenterologist at some point, particularly given that abdominal symptoms occur in approximately 80% of patients [14] and on average it takes 10 years from the time of onset of symptoms until a diagnosis is made [2]. It is commonplace for HAE-mediated abdominal pain to be mistaken for other causes of abdominal pain, such as appendicitis, cholecystitis and small bowel obstruction [15,16].…”

Section: Discussionmentioning

confidence: 99%

Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency

Rubinstein

Stolz²,

Sheffer

et al. 2014

BMC Gastroenterol

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BackgroundHereditary angioedema (HAE) is characterized by unpredictable attacks of debilitating subcutaneous and mucosal edema. Gastrointestinal attacks are painful, of sudden onset and often mistaken for acute abdomen leading to unnecessary surgery. The purpose of this study was to analyze symptom presentation of gastrointestinal angioedema in pediatric and adult HAE patients.MethodsInformation collected during the clinical development of ecallantide for treatment of acute HAE attacks included affected anatomic location, accompanying symptoms, medical history, and pain assessments. Efficacy endpoints included Treatment Outcome Score (TOS, maximum score = 100; minimally important difference = 30), a point-in-time measure of treatment response, and time to treatment response.ResultsForty-nine percent of 521 HAE attacks only involved abdominal symptoms. The most commonly reported abdominal symptoms were distension (77%), cramping (73%) and nausea (67%). The most common pain descriptors were tender, tiring-exhausting, aching, cramping and sickening. White blood cell counts were elevated (>10 × 109/L) in 23% of attacks (mean ± SD: 15.1 ± 11.27 × 109/L). A high proportion of patients reported a history of abdominal surgery, including appendectomy (23%), cholecystectomy (16.4%), and hysterectomy (8.2%). Mean TOS at 4 hours post ecallantide was 77±33 versus 29±65 for placebo. Median time to significant symptom resolution was 165 minutes (95% CI 136, 167) for ecallantide versus >4 hours (95% CI 161, >4 hours) for placebo. Anaphylactic reactions occurred in 6 of the 149 treated patients.ConclusionsHAE should be considered in the differential diagnosis of patients with recurrent discrete episodes of severe, unexplained crampy abdominal pain associated with nausea.Trials registrationThe data used in the analysis were gathered across multiple clinical trials conducted during the clinical development program for ecallantide. All of the studies were conducted using Good Clinical Practices (GCP) and in accordance with the ethical principles that have their origins in the Declaration of Helsinki. Each site that participated in the clinical trials obtained the appropriate IRB or Ethics Committee approval prior to enrolling any patients. All patients provided written informed consent prior to undergoing any study-related procedures. Pediatric patients provided written assent and their parents or guardians gave written informed consent.The following trials have been registered at http://www.clinicaltrials.gov: EDEMA2 (identifier NCT01826916); EDEMA3 (identifier NCT00262080); EDEMA4 (identifier NCT00457015); and DX-88/19 (identifier NCT00456508).

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Gastrointestinal Manifestations, Diagnosis, and Management of Hereditary Angioedema

Cited by 32 publications

References 15 publications

Angioedema in the emergency department: a practical guide to differential diagnosis and management

Angioedema in the emergency department: a practical guide to differential diagnosis and management

How Familiar are Internists with a Potentially Deadly Orphan Disease?: Hereditary Angioedema

Abdominal attacks and treatment in hereditary angioedema with C1-inhibitor deficiency

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