HAE in the Otolaryngologist's Office: How to Handle a Laryngeal Attack?
Hereditary angioedema (HAE) can be encountered in emergency rooms and specialist offices. Patients with this rare disorder are often misdiagnosed with a more common condition, and they may learn their correct diagnosis only after many years. This is because HAE manifests with a combination of symptoms that are typical of various other diseases. What should pediatricians, otorhinolaryngologists, and gastroenterologists be aware of? Providing better understanding of HAE symptoms from different specializations' perspectives and emphasizing the importance of interdisciplinary collaboration for accurate diagnosis and patient care was the focus of a professional webinar we have summarized for you.
Approximately 50% of patients with HAE experience a laryngeal attack. This is a terrifying experience and a potentially life-threatening condition, which by itself causes anxiety in patients with HAE. These facts were highlighted by otorhinolaryngologist Dr. Susanne Trainotti from the University Hospital in Ulm during her presentation. She illustrated early symptoms that an otorhinolaryngologist might encounter during an HAE attack through a case study, and discussed treatment strategies for high suspicion of HAE.
Case Study
A 35-year-old man reported recurrent tongue swelling, sometimes involving the lips and face, as well as occasional transient skin rash. He had no recorded allergies; however, lactose intolerance was suspected due to recurrent abdominal swelling. He had hypertension and was on ACE inhibitors.
Crucial Importance of Detailed Medical History
At this point, Dr. Trainotti emphasized the importance of thoroughly taking the patient's history (“going as deep as possible during patient consultations, asking more questions”). Histamine-mediated angioedema was ruled out. Targeted questions revealed that the patient used cetirizine for swelling, but it did not help, so he stopped using it. The swelling usually lasted 2–3 days, and the rash was non-itchy. “It can be helpful if the patient provides photos of the swelling and rash,” she noted, adding that erythema marginatum is typical for HAE.
The second possibility considered was bradykinin-mediated angioedema. Supporting this was the fact that the patient regularly used the ACE inhibitor ramipril (since ACE inhibitors induce higher levels of bradykinin by inhibiting its degradation). Against this was the fact that these symptoms typically appear after many years of using ACE inhibitors, whereas this patient had started ramipril treatment only three months ago.
The family history did not reveal any instances of similar swelling events. However, this does not exclude HAE (there's a 50% risk of inheriting the mutation, although 20–25% of cases are due to de novo mutations).
Treatment of the Attack
The patient experienced acute problems: a feeling of globus pharyngeus and shortness of breath. There was no visible swelling of the lips or tongue. The patient was given intravenous corticosteroids and antihistamines, and provided with oxygen through a mask. A transnasal endoscopy of the larynx showed no bradykinin-mediated angioedema in the nasal mucosa.
Despite anti-allergic medication, symptoms progressed. The lecturer recommended performing transnasal intubation or possibly a cricothyrotomy depending on the severity of the swelling. Upon suspicion of HAE, targeted treatment specific for HAE should be tried as soon as possible.
The patient was therefore administered the acute medication indicated for HAE, specifically intravenous C1-INH (if insufficient, an additional dose can be given). An alternative or additional option is icatibant, a bradykinin B2 receptor antagonist (again, if insufficient, another dose can be given).
Blood tests showed normal concentration but poor function of C1-INH, and a genetic analysis confirmed a mutation in the SERPING1 gene, confirming a diagnosis of HAE, specifically type 2.
Ramipril was thus discontinued.
Treatment as Prevention of Laryngeal Attacks
In the concluding summary, the lecturer emphasized again that half of people with HAE have had at least one laryngeal attack in their lifetime, with some experiencing it as the very first symptom of the disease. She noted that treatment helps prevent laryngeal attacks and significantly improves the quality of life for these patients.
It is essential to refer the patient to a specialized HAE center for diagnosis confirmation and to provide optimal treatment.
Eva Srbová
MeDitorial editorial team
Source: Trainotti S. HAE from the otolaryngologist’s perspective. Could it be hereditary angioedema (HAE)? What to look out for. HAExpert, 2021 Mar 25.
Another article on this topic can be found at Correct Diagnosis of HAE is Also a Prevention of Unnecessary GI Surgeries
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