Diagnosis, treatment, can thwart blocked airways from HAE swelling
Case report details recovery of man in China with life-threatening HALE
Recognizing a problem early and treatment can help avoid life-threatening complications when swelling of the larynx, or voice box, caused by hereditary angioedema (HAE) blocks the airways.
That’s according to a report that describes the case of a man in China with hereditary angioedema-induced laryngeal edema (HALE), which can restrict breathing and be fatal. In this case, the man fully recovered after receiving targeted HAE therapies.
“This case highlights the need for early recognition and targeted therapy in HALE to prevent life-threatening complications,” the researchers wrote in the report, “Hereditary angioedema-induced laryngeal edema: A diagnostic and therapeutic race against time,” which was published in The American Journal of Emergency Medicine.
HAE is a genetic disease that’s usually caused by mutations that impair the production or function of C1 esterase inhibitor (C1-INH), a protein involved in regulating the production of the signaling molecule bradykinin. When there isn’t enough C1-INH, bradykinin levels can rise too high, causing fluids to leak from blood vessels into tissues and leading to swelling, the disease’s primary symptom. When that happens in the larynx, the result, HALE, can be life-threatening.
‘Importance of early recognition and targeted intervention’
In this case, the man, 34, went to the emergency department with facial swelling and difficulty swallowing and breathing. Clinicians initially administered an antihistamine, corticosteroids, and adrenaline, all of which can treat severe allergic reactions and inflammation, but the man didn’t respond to them and reported increasing throat pain and respiratory difficulty.
A CT scan and examination of the larynx revealed angioedema, or tissue swelling. Despite treatment with steroids and antibiotics to ease inflammation, the swelling worsened within an hour of his admission to the hospital. Because the swelling severely impeded his breathing, the clinical team performed a tracheostomy, creating a hole in his windpipe and inserting a tube to allow airflow into his lungs.
These actions represented what the researchers called an acute treatment phase, which focused on clearing the man’s airways.
“The main goal of acute-phase treatment is to prevent symptoms from progressing to their most severe degree within hours and to avoid residual complications,” wrote the clinicians, who then moved to the second phase, the use of targeted medications to reduce swelling.
When they examined the man’s medical history, the clinicians noted multiple episodes of swelling in his limbs, genitals, and intestines since childhood. Several family members on his mother’s side also had a history of swelling in the face and limbs, suggesting a hereditary component.
Testing showed C1-INH wasn’t functioning correctly, confirming a HAE diagnosis.
With a diagnosis in hand, the team administered icatibant (sold as Firazyr, and also available as generics), a first-line therapy for HAE that inhibits bradykinin action, reducing swelling. The man’s symptoms began to resolve and after four days, there was no laryngeal inflammation.
On day nine at the hospital, his breathing tube was removed and he was transitioned to the third phase of treatment, which focused on preventing future swelling attacks. With biweekly preventive injections of Takhzyro (lanadelumab), the man remained in remission over six months of follow-up.
Acute, targeted, and preventive treatment enabled him to make a full recovery and prevent complications, the researchers said.
“This case underscores the critical importance of early recognition and targeted intervention in HALE to mitigate life-threatening complications. Future investigations should prioritize … longitudinal follow-up assessments to comprehensively evaluate the efficacy and safety of various treatment strategies,” they wrote.
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