Teens with HAE talk of disease affecting school, life quality
Dozen patients, ages 12 to 17, also say that preventive therapies help
The symptoms of hereditary angioedema (HAE) can be very hard on adolescents, significantly affecting their health-related quality of life, particularly in regard to schooling and their social and emotional well-being, a U.S. study based on interviews with a dozen young patients reported.
Those taking part, ages 12 to 17 with HAE types 1 and 2, also stated that prophylactic (preventative) and acute treatments effectively eased symptoms and improved their life quality.
“These learnings suggest that health care providers and clinical investigators should consider the unique [health-related quality of life] impacts experienced by adolescents when evaluating treatment benefit,” the scientists wrote.
The study, “The adolescent experience of hereditary angioedema: a qualitative study of disease burden and treatment experience,” was published in the Orphanet Journal of Rare Diseases. It was conducted by two scientists with Ionis Pharmaceutics, whose prophylactic HAE treatment donidalorsen is under review for approval in the U.S., working with those at a health research analytics and services company.
Abdominal HAE attacks reported by 11 of 12 adolescents interviewed
HAE types 1 and 2 are caused by mutations in the SERPING1 gene that impair the production or function of a protein called C1-inhibitor, leading to the excessive production of bradykinin — a molecule that normally promotes blood vessel widening.
High levels of bradykinin cause fluid to leak from blood vessels and accumulate in the deeper layers of the skin or mucous membranes, triggering swelling attacks of varying frequency and severity.
“While the substantial burden and impact of HAE on adults’ health-related quality of life are well-documented, relatively little is known about the experiences of adolescents with HAE,” the scientists wrote, noting the mean age at onset of disease symptoms is reported to be 10 to 12 years old.
They interviewed 12 adolescents, six ages 12 to 14 and six ages 15 to 17, focusing on how they experience HAE symptoms and how the disease impacts their quality of life. Participants, identified through a patient advocacy group, mostly defined themselves as white (91.7%), and 50% were male. All were on prophylactic treatment to prevent swelling attacks, and 11 also received on-demand treatment during acute attacks.
In general, these young patients described their attacks as painful and uncomfortable, with almost all experiencing abdominal attacks (11 of 12, 91.7%). Other common attack sites were the face and hands (8 people, 66.7%), followed by the feet (six; 50%).
“My stomach — it would just … feel like, um — squeezing, like it would hurt a lot and I would be vomiting,” said one 12-year-old girl of an abdominal attack. Another girl of the same age noted how each attack’s severity could differ, explaining that “sometimes it’s painful, sometimes it’s itchy, sometimes it’s just swelling.”
Besides swelling, the most frequently reported symptoms were pain (83.3%), nausea (58.3%), and vomiting (41.7%). These symptoms also were considered to be the most bothersome and the most important to prevent or ease through treatment.
Repetitive activities like jumping or video games among noted triggers
Most reported their attacks were triggered by stress (75%), followed by injury (41.7%), prolonged or repetitive activities (33.3%), or heat (33.3%). Among repetitive activities mentioned were jumping on a trampoline (abdominal attack) and playing video games (attack affecting the hands). Less frequent triggers included being sick and hormonal fluctuations.
Before prophylactic treatment, attack frequency ranged from weekly or monthly down to a few each year. This dropped significantly following the initiation of preventive treatment.
“I don’t have them very like often at all because I am well-treated and controlled right now … I’ll occasionally have like a hand or a foot swell when the weather’s like really humid … Before, I was having stomach swells, like 2 or 3 times a week,” a 17-year-old girl said.
HAE affected their school-related activities, 83.3% of the adolescents reported, whether their school work directly because of difficulties concentrating, missing classes and falling behind, or difficulties with writing, typing, or walking. Less directly, others noted needing to advocate for themselves at a school, and the disease limiting their participation in extracurricular programs like sports.
“My school hasn’t really been all that understanding with me being diagnosed with HAE, especially because they’ve never heard of it,” a 16-year-old boy said. “We’ve actually been struggling for like a few months, trying to even have my emergency medicine at the school.”
“[HAE] definitely hindered like my ability to ever think about trying out for sports,” a 17-year-old boy said. “I’m just too nervous to for like the overall risk … physical activity does sometimes make it worse.”
Most also reported disease impacts on social activities (83.3%), like missing events, self-isolating, or with bullying, as well as emotional difficulties that included anxiety, fear, or feelings of embarrassment (75%).
“Emotionally, participants described their fear and anxiety that an HAE attack may happen at any time and explained that it is not possible to predict the location or severity of an attack,” the scientists wrote.
Prophylactic treatment seen to be of major help with daily life
Life quality improved once the adolescents started using prophylaxis.
“[I] could never really do sports because [my parents] were nervous that I was gonna get … injured in some way,” a 12-year-old girl said. “I couldn’t really do sports until I got preventative medication.”
Generally, these young patients were satisfied with their current treatments, particularly favoring treatments they could administer themselves (75%), or with convenience in administration or dosing frequency, and with good efficacy (66.7% for each point). Inconvenience and side effects, such as pain at injection site and an upset stomach, were considered to be the most negative aspects of treatment.
“Adolescents with HAE reported experiencing a range of symptoms that, when untreated, impacted their [health-related quality of life] in ways that are unique from adults,” the scientists wrote, adding that “participants were mindful to state that their experiences have been very different since being on prophylaxis.”
Ionis Pharmaceuticals funded this study.
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