HAE and its Management in Pediatric Patients
Hereditary angioedema (HAE) can be encountered in the emergency room as well as in specialist practices. Patients with this rare disease are often incorrectly diagnosed with other, more common conditions, and it can take many years before they receive the correct diagnosis. This is because the symptoms of HAE overlap with those of other illnesses. What should pediatricians, otolaryngologists, and gastroenterologists be aware of? To provide a better understanding of HAE symptoms from the perspective of various specialties and emphasize the importance of interdisciplinary collaboration for the correct diagnosis and care of patients with HAE, a professional webinar was held. We have prepared a summary of the most important points for you.
Why should pediatricians be interested in HAE? Allergist Dr. Christina Weber from the University Hospital in Zurich answered this question succinctly: Because the onset of HAE usually occurs in the 1st or 2nd decade of life. Early diagnosis is crucial for optimizing HAE management and treatment. However, according to published data, there is a significant delay in diagnosis. For example, data from a cohort of 22 patients without a family history of HAE shows a median delay of 10 years (Wais-Knöcker et al., Praxis 2010).
Symptoms and Triggers
Dr. Weber explained what symptoms to look for in pediatrics and what could be triggers for children. Most HAE attacks are spontaneous, but they can be triggered by emotional or mechanical stress, physical exertion, insect bites, medications (ACE inhibitors, ARBs), certain foods, injuries, infections, surgeries, hormonal fluctuations, and estrogen. In young children, it can be difficult to detect triggers. Parents and teachers should definitely be educated on how to identify and treat potential HAE attacks.
In girls, the first symptoms of HAE often manifest at the onset of puberty. In 63–80% of women, HAE symptoms are worsened by oral contraceptives containing estrogen. The administration of progestin may have a prophylactic effect (improvement was documented in 82% of women with HAE using purely progestin-based contraception).
Case Study
The presenter cited the case of a 7-year-old girl who visited a doctor for intense abdominal pain, vomiting, diarrhea, and swelling of the right hand. These symptoms lasted for 12 hours, and a rash appeared before their onset. The patient did not experience itching. There were no cases of HAE, swelling, or unexplained deaths in the family medical history.
The girl was given oral antihistamines, cortisol, and an abdominal ultrasound was performed. The medications had no effect, and the ultrasound showed bowel swelling, so intravenous on-demand therapy with C1-INH was administered. Symptoms subsided within 2 hours. Blood tests confirmed HAE type 1.
Treatment Options for Children
For pediatric patients, on-demand therapy can be used, either intravenous (plasma-derived C1-INH [pdhC1-INH] or recombinant) or subcutaneous (icatibant), preprocedural prophylaxis (i.v. pdhC1-INH), and long-term prophylaxis (oral tranexamic acid, i.v. pdhC1-INH, and from 12 years of age, s.c. pdhC1-INH and s.c. lanadelumab).
Prophylactic recommendations include avoiding triggers and utilizing short-term prophylaxis before events that could provoke an attack (e.g., dental surgery). Acute on-demand treatment should be accessible to all children diagnosed with HAE.
Key Importance of Early Detection
“The patient's personal medical history is important. Consider hereditary angioedema if there is a family history of angioedema and if symptoms are present but do not respond to antihistamines and corticosteroids,” said Dr. Weber. Available treatments are effective, making early detection crucial. For the rapid and effective treatment of attacks and successful management of this disease, good cooperation between pediatricians and specialized HAE centers is essential.
Eva Srbová
editorial MeDitorial
Source: Weber C. HAE in the pediatric patient. Could it be hereditary angioedema (HAE)? What to look out for. HAExpert, 2021 Mar 25.
Another article on this topic can be found at HAE in the Otolaryngologist's Practice: How to Manage a Laryngeal Attack?
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