Hereditary angioedema: what the gastroenterologist needs to know

Abstract

Up to 93% of patients with hereditary angioedema (HAE) experience recurrent abdominal pain. Many of these patients, who often present to emergency departments, primary care physicians, general surgeons, or gastroenterologists, are misdiagnosed for years and undergo unnecessary testing and surgical procedures. Making the diagnosis of HAE can be challenging because symptoms and attack locations are often inconsistent from one episode to the next. Abdominal attacks are common and can occur without other attack locations. An early, accurate diagnosis is central to managing HAE. Unexplained abdominal pain, particularly when accompanied by swelling of the face and extremities, suggests the diagnosis of HAE. A family history and radiologic imaging demonstrating edematous bowel also support an HAE diagnosis. Once HAE is suspected, C4 and C1 esterase inhibitor (C1-INH) laboratory studies are usually diagnostic. Patients with HAE may benefit from recently approved specific treatments, including plasma-derived C1-INH or recombinant C1-INH, a bradykinin B2-receptor antagonist, or a kallikrein inhibitor as first-line therapy and solvent/detergent-treated or fresh frozen plasma as second-line therapy for acute episodes. Short-term or long-term prophylaxis with nanofiltered C1-INH or attenuated androgens will prevent or reduce the frequency and severity of episodes. Gastroenterologists can play a critical role in identifying and treating patients with HAE, and should have a high index of suspicion when encountering patients with recurrent, unexplained bouts of abdominal pain. Given the high rate of abdominal attacks in HAE, it is important for gastroenterologists to appropriately diagnose and promptly recognize and treat HAE, or refer patients with HAE to an allergist.

Hereditary angioedema presenting as irritable bowel syndrome: a case of early closure

“…Type 3 has normal C1-INH level and function. It is further divided into HAE with normal C1-INH and FXII mutation and HAE of unknown origin (U-HAE) ( 4 , 8 , 9 ).…”

“…HAE typically presents in the first or second decades of life ( 4 , 10 ). The average time between the onset of symptoms and diagnosis is 8–10 years ( 3 , 8 ).…”

“…Abdominal sonogram often shows mucosal thickening and free peritoneal fluid ( 11 , 12 ). Abdominal symptoms may be the only presenting symptoms of HAE, and these symptoms may precede the skin manifestation by many years ( 8 ).…”

“…There are currently three approved medications for the treatment of acute attacks: plasma-derived C1-INH , the bradykinin B2 receptor antagonist icatibant, and kallikrein inhibitor ecallantide. All have been shown to be safe and efficacious for the treatment of acute HAE attacks ( 8 , 18 , 19 ).…”

The Gut-Kidney Axis: Putative Interconnections Between Gastrointestinal and Renal Disorders

“…Angioedema is commonly characterized by short-lived episodes of serious edema involving the lungs, the skin, and the gastrointestinal tract ( 137 , 138 ). Over 90% of hereditary angioedema patients have experienced episodic or chronic abdominal pain, which is accompanied by other gastrointestinal symptoms such as diarrhea, nausea or vomiting ( 139 ). Similar complications have been reported in individuals with angiotensin-converting enzyme inhibitor-induced angioedema ( 140 ).…”