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Researchers at Osaka University recently set out to determine the reason for seven to ten-year delays in diagnosing rare diseases. It is estimated that seven to ten thousand rare diseases affect approximately four hundred million people. This includes approximately thirty million Americans.

Moeko Isono, the lead author, tells MedicalXpress that the team’s approach differs from previous studies where the focus was on time to diagnosis and other numerical considerations.

Researchers in the Osaka study will consider why the right diagnosis would take so long. Their goal is to create awareness and achieve improvement.

Hereditary Angioedema

The researchers chose patients who had hereditary angioedema (HAE) as the focus of their study. They examined the possible reasons the disease involves such protracted diagnostic delays.

Swelling in various parts of the body caused by HAE may affect the airways. The mortality rate triples if the disease is left undiagnosed.

Nine patients with HAE were interviewed by the researchers. They were asked to describe their illness starting with their first symptoms to their final diagnosis. Many of the patients told the researcher they had lost any hope of recovery and were resigned to accepting their illness with little hope of discovering its cause.

Senior author Kazuto Kato found that in the majority of cases, the examining physicians never even broached the possibility that the patient may have had a rare disease. Instead, the patients reported being diagnosed as having psychological stress or stomach flu. This was of considerable concern to the research team.

Creating Awareness

The study proves the importance of raising awareness among clinicians and patients. There is an urgent need to enact measures that will assist patients and their health care providers in recognizing rare disease symptoms and educating the public through the media.

Patients must be advised that a doctor may not be fully aware of their condition. Therefore, it is important that patients raise their concerns and act as an advocate for themselves. This was of major concern to the investigators and another factor that may improve diagnostic delays.