Diagnosing and treating HAE most challenging across rural US

Survey of allergists and immunologists notes problems, from care access to costs

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by Andrea Lobo |

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

Diagnosing and treating hereditary angioedema (HAE) can be challenging, but it is particularly difficult when patients live in rural areas of the U.S., a study based on a survey of allergy and immunology specialists reported.

“Misdiagnosis of symptoms, access to a specialist, and affording medications remain high-priority concerns among those surveyed and these obstacles are heightened for patients living in rural areas,” its researchers wrote.

The study, “Challenges in the Management of Hereditary Angioedema in Urban and Rural Settings: Results of a US Survey,” was published in the journal Annals of Allergy, Asthma & Immunology.

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12% of respondents’ patients lived in rural areas with less than 20,000 residents

Swelling attacks in deeper layers of the skin or membranes characterize HAE, and while usually affecting the face and limbs, these attacks can be serious when the airways and intestinal tract are involved. Various mutations are linked to the types and causes of HAE, and the disease’s diagnosis and treatment typically involves doctors with specialties as allergists or immunologists.

HAE treatment can be on demand and used to treat and control attacks, or prophylactic, meaning preventive, given to reduce attack frequency and severity.

To better understand the experiences of specialists in the U.S. working with HAE patients, particularly those living in areas with less than 20,000 residents and considered rural, researchers conducted an online survey of members of a professional association for allergists and immunologists.

A total of 138 specialists — physicians to nurse practitioners — completed the survey. Responders cared for a mean of nine HAE patients each year, most of whom were women (67%) and between the ages of 18 and 64 (79%). A majority had moderate disease severity (53%).

Most patients had either HAE type 1 (66%) or HAE type 2 (15%), both caused by mutations in the SERPING1 gene. This gene carries instructions for producing the C1-inhibitor (C1-INH) protein, leading to low levels of C1-INH for type 1 patients or impairing its function for those with type 2. The remaining 19% had HAE type 3, due to mutations in the F12 gene that is crucial in blood clotting and inflammation.

On average, 12% of these patients lived in rural areas.

Most respondents reported managing their patients’ disease using prophylactic therapies and on-demand treatment as needed. Around a third of patients — 34% on average — were using only on-demand treatments for acute attacks.

When selecting a treatment, professionals reported their main considerations to be the frequency (90%) and severity (88%) of HAE attacks. Patient preference (67%), the disease’s impact on daily life (67%), and the distance a patient must travel for emergency hospital treatment with a life-threatening attack (41%) were other key factors.

Main treatment goals mentioned were to improve a patient’s quality of life (68%), and to reduce attack severity (51%) and frequency (49%). Achieving an attack-free status for prolonged periods of time (33%) and avoiding the need for an emergency hospital visit (33%) were other top treatment goals.

Almost all survey respondents (98%) acknowledged challenges in diagnosing HAE, particularly with this rare disease initially being misdiagnosed as another condition (82% of respondents).

“Our survey identified a lack of access to accurate testing as a barrier to diagnosis, both misinterpretation of test results (51%) and reported problems with the laboratory leading to false results (30%),” the researchers wrote. “Hopefully, more rapid and more accurate testing will be universally available.”

Other notable diagnostic challenges were a lack of common HAE indicators, like family history (66% of respondents); healthcare providers being unfamiliar with the disease (64%); and patients either not understanding telltale HAE symptoms (41%) or the need for a diagnosis (45%).

Affordability of HAE care and treatment of concern

Many of these professionals —  43% — also noted that patients can lack access to specialized allergist or immunologist care. Respondents treating HAE patients in rural areas strongly agreed with this lack, the study noted.

A patient’s inability to afford treatment, whether due to inadequate insurance or out-of-pocket costs, was the top reason given — by 76% of respondents — to questions concerning challenges with treatment. HAE patients with U.S. government insurance, like Medicaid or Medicare, were at a disadvantage because this insurance often is not accepted by specialists treating HAE (64%).

Better Medicaid and Medicare reimbursements for providers and medication coverage could help HAE patients, especially those in rural areas, a majority or near majority of responders noted.

Survey answers also indicated higher barriers to care for rural patients, particularly in having to travel long distances to see a provider (reported by 59% of respondents). Given this barrier, 93% of them considered that these patients should always have access to prophylactic treatment.

Ways of better supporting treatment for rural patients included greater availability of at-home medications, favored by 72% of respondents; better working relationships with community healthcare providers, mentioned by 63%; and greater availability of peer-to-peer consultations, favored by 30%.

Direct support, like education/support groups or transport services to and from appointments, would also help rural patients.

Since the COVID-19 pandemic, 86% of respondents have used telehealth for appointments at least on occasion. Nearly half noted that easing rules governing the use of telehealth could better support care for those in rural areas.

“We are pleased with ongoing efforts to expand this service and encourage our organizations and Congress to permanently expand this service,” the researchers wrote.

“Through this survey, we have highlighted real challenges to the diagnosis and management of patients with HAE which can be compounded for those living in rural areas. Fortunately, we see several steps forward,” they added.