Poorly controlled HAE carries heavy burden, affecting life quality

Some 36% of 59 adult respondents in Dutch study report struggling with disease

Andrea Lobo avatar

by Andrea Lobo |

Share this article:

Share article via email
An illustration showing a magnifying glass hovering over one checked box among a number of such boxes.

A substantial proportion of adults with hereditary angioedema (HAE) in the Netherlands have poorly controlled disease, significantly affecting their quality of life, a survey study reported.

Findings also linked well-controlled HAE to lower medical costs and greater productivity, relative to patients without adequate disease control.

“Additional [preventive treatment] strategies seem to be needed to improve disease control in a large subset of HAE patients,” its researchers wrote.

The study, “The disease burden and societal costs of hereditary angioedema,” was published in The Journal of Allergy and Clinical Immunology: In Practice.

Recommended Reading
A woman takes medication given her by a doctor in his office.

Diagnosing and treating HAE most challenging across rural US

Angioedema Activity questionnaire scores used to determine disease control

Hereditary angioedema’s main cause is a deficiency or dysfunction in the C1-inhibitor (C1-INH) protein due to mutations in the SERPING1 gene. It is characterized by recurrent swelling attacks that affect the deeper layers of the skin. Attacks also can occur in the membranes lining the respiratory and gastrointestinal systems, leading to breathing difficulties, vomiting, and abdominal pain.

Under current guidelines, disease treatment aims “to achieve total control of the disease and to normalize patients’ lives” by preventing HAE attacks and treating acute events.

To explore the social and economic burden of HAE, particularly its related medical costs and effects on productivity, researchers in the Netherlands surveyed a group of adults with HAE and C1-INH deficiency being treated at an Amsterdam center. All were contacted by phone and asked to participate in the survey study, which was conducted between July and November 2021.

Participants kept a paper diary for four weeks, after which they responded to an online questionnaire addressing disease control, treatment satisfaction, quality of life, and socioeconomic costs.

Of the 88 patients invited to participate, 69 (78%) completed the study.

Participants had a mean age of 45.8 and more than half (60.9%) were female. Disease symptoms began at  a median age of 13 and patients were diagnosed with HAE at a median age of 18.

Most (94%) reported having experienced angioedema attacks, primarily affecting the abdomen (28 patients; 40.6%) and the extremities (18 patients; 26.1%). No HAE attacks were reported by four patients with a laboratory-confirmed diagnosis.

A majority (36 patients; 52.2%) were salaried employees and another eight (11.6%) were working at home; 18 patients (25.9%) were retired or unemployed.

At the time of data collection, most patients (59%) were using disease treatments to prevent attacks, while 28% were taking on-demand medications for acute attacks. A smaller proportion (13%) were not receiving any treatment.

Among 59 patients who completed the Angioedema Activity Score 28 (AAS28, measuring disease activity over 28 consecutive days), almost two-thirds reported well-controlled disease, with a mean AAS28 score of 3.08.

However, 22 others (36%) reported poorly controlled HAE, with a mean AAS28 score of 39.36, and a poor quality of life. Overall, patients struggled mostly with problems due to fatigue and mood.

These observations indicate that “current [preventive] strategies provide insufficient improvements on disease control in a considerable subset of HAE patients. For this reason, additional [preventive] strategies appear to be needed to improve disease control,” the researchers wrote.

HAE treatment costs a considerable part of economic disease burden

Treatment satisfaction was similar among patients experiencing an HAE attack during the study and those who were attack free.

On days without an HAE attack, patients’ reported quality of life was similar to that of the general Dutch population, with an average score on a life-quality questionnaire (EQ-5D-5L) of 0.873 among patients and 0.869 for the general public. However, their quality of life substantially decreased with an HAE attack, with an average EQ-5D-5L score of 0.420.

“Although HAE attacks do not typically last for a long period of time, the drastic drop in [health-related quality of life] during an attack further indicates the heavy burden of HAE attacks,” the researchers wrote.

On average, total costs per patient were €22,764 (about $24,730) each year, predominantly due to medical costs (74% of total costs) largely associated with HAE treatments.

Total productivity costs per patient were estimated to be at €468 per patient each month, considering absenteeism, an inability to be full participant while working, and unpaid work.

Patients with well-controlled HAE had lower total, medical, informal care, and productivity costs compared with those with poorly controlled disease.

“This study describes the entire burden of HAE among Dutch patients comprising disease control, quality of life, treatment satisfaction and societal costs,” the researchers wrote, adding that its findings “can inform cost-effectiveness analyses which can aid reimbursement decisions for HAE treatments.”