Lack of Rare Disease Awareness Contributes to Diagnosis Delays

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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Lack of awareness about rare diseases, such as hereditary angioedema (HAE), contributes to their often long and delayed diagnosis, a study suggests.

The study, “Why does it take so long for rare disease patients to get an accurate diagnosis?—A qualitative investigation of patient experiences of hereditary angioedema,” was published in Plos One.

Diagnosing people with rare diseases, including angioedema, can be a long and complex process. Previous reports estimated that patients wait on average four to nine years to receive a correct diagnosis. For those living in low- or middle-income countries, this can take even longer.

Recently, several countries, including the U.S., Canada, U.K., and Japan have launched programs to reduce delays in diagnosing rare diseases. However, in general, the measures introduced do not include a qualitative analysis, particularly regarding patients’ own experiences and views while waiting for a diagnosis.

Researchers in Osaka University and Kobe Pharmaceutical University, Japan, believe that “experiences of the patients before they reach a correct diagnosis are not adequately understood.” According to them, a deeper understanding of patients’ perspectives and recognizing experiences common to them could help develop solutions.

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The researchers specifically focused on patients with HAE — which is marked by recurrent swelling episodes in the deeper layers of the skin — and evaluated their experiences to identify factors that may contribute to diagnosis delays.

They interviewed HAE patients with a gap of more than five years since symptom onset to HAE diagnosis. The main topics covered included hospital visits, the diagnosis and treatment they received, as well as whether their perceptions about their physical problems had changed. The patients were interviewed for about 90 minutes. Nine patients (eight women, one man) participated in the study.

Eight out of nine participants visited a hospital in the first year of symptom onset. Despite this, they waited about 23 years for a diagnosis, on average.

The patients reported having diverse symptoms while waiting for a diagnosis. These included swelling — which affected the larynx (the area of the throat that contains the vocal cords) — abdominal issues, joint pain, and nasal congestion. Several said they had health issues as a child, including frequent colds or urinary infections.

During this time, participants were given various diagnoses, such as allergies, stomach flu, appendicitis, asthma, and colds. Some were given alternative diagnoses. Over time, many resigned themselves to their symptoms and got used to not having an explanation or a diagnosis. Most importantly, a rare disease was never suspected, the researchers noted. This likely contributed to the long delay in getting correctly diagnosed.

“They became accustomed to the fact that they could not get a clear diagnosis and medication when they went to the hospital,” the researchers wrote.

Some of the patients, along with their doctors, continued searching for a disease name for their condition.

Other patients whose symptoms failed to diminish with the prescribed medications attempted to get by on their own after leaving the hospital and to try to understand what triggered their symptoms. They often sought out information or people with similar problems.

When an HAE diagnosis was finally reached, it happened in different ways. In some cases, patients came across a physician who knew about HAE. In others, a friend shared information about the disease.

For some patients, an HAE diagnosis came about through trying to deal with their symptoms. In two cases, patients had previously learned about HAE, but still waited a long time — 35 years in one case — to receive a diagnosis.

When considering the factors that might explain diagnosis delays, the failure to even suspect a rare disease was considered the first “factor to be of particular importance.”

Insufficient knowledge about rare diseases by physicians, patients and medical professionals not partnering or communicating well, and patients simply learning to live with their condition likely contributed to a rare disease not being suspected. Another factor was medical professionals having limited knowledge of a patient’s overall condition, researchers said.

Strategies to shorten the time to obtain a diagnosis could include promoting awareness about rare diseases, improving how the diagnostic process is set up to help doctors make better referrals, and establishing centers that specialize in rare disease diagnosis. Digital tools and artificial intelligence can also be used to assist in achieving an earlier diagnosis.

“We found that one of the most important factors related to the prolonged undiagnosed period is the lack of suspicion of a rare disease by patients and their medical professionals,” the researchers wrote. “Our results strongly suggest that measures are needed to facilitate patients and clinicians to become aware of rare diseases.”