Fabry Korea, a group of Fabry disease patients, surveyed its members this month to raise public awareness.
It conducted an online opinion poll on 58 patients and their family members to grasp the diagnosis and treatment of the disease and its effects on life and enhance the understanding of the disease.
Fabry disease is a genetic disorder that belongs to a group of diseases known as lysosomal storage diseases. If people have Fabry disease, they don't have enough enzymes to break down a specific type of fat in their cells. As a result, the fat builds up in their body, causing various symptoms.
In the survey, 95 percent of Fabry disease patients and their family members experience a lowering of their quality of life due to the “negative consciousness of the genetic disease and psychological burden caused by lifetime treatment. Sixty-seven percent answered it exerts “very negative influence” and 28 percent pointed to “slightly negative influence.”
The group explained that patients had trouble treating it and a sense of guilt for the genetic ailment and psychological burden. As the element that affected daily life most, they cited “investment of time into treatment, including visits to hospitals” (61 percent). Sixty-five percent visited hospitals twice a month and wanted the interval increased to at least once a month (39 percent) and bimonthly (36 percent).
Treatment of Fabry disease includes enzyme replacement therapy (ERT) and oral treatment. For enzyme replacement therapy, an injection method, patients must visit the hospital once every two weeks. Oral treatment should be prescribed by visiting the hospital once every 60 days.
It took about 15.5 years on average to treat Fabry disease after the onset of symptoms. The largest number of respondents (58 percent) said that “symptoms appeared before the age of 20, and 59 percent said they “started treatment after 40.”
The most crucial purpose of treating Fabry disease was to “reduce the incidence of complications (43 percent).” Coming next was the “maintenance of daily life (28 percent)” and “reduction of pain (17 percent).” Seventy percent said they had “companion diseases” to Fabry disease. Among the common accompanying diseases were heart disease (32 percent), kidney disease (20 percent), and eye disease (6 percent).
Patients cited “oral treatment” as their favorite treatment method. A dominantly high share (89 percent) chose it, and only 8 percent preferred injections. Among those surveyed, 17 did not receive treatment, with 41 percent citing “noncompliance with the insurance benefit regulations” as the reason.
As the point that must be improved for its early detection and aggressive treatment, 81 percent cited the “insurance standards that can allow for receiving treatment before severe symptoms appear.”
“Korea’s insurance reimbursement standards have a higher threshold than other countries,” Fabry Korea said. “Korea is the only country where insurance benefits for Fabry disease treatments are given only for the secondary treatment. The situation was similar in Australia, too. However, the Oceanic country expanded the standards on April 7, permitting benefits for primary treatments.”
Noting that treatment methods are diversifying and more patients are willing to come out to treat their disease instead of hiding it, the group said, “It is essential to change social awareness about hereditary diseases and rare diseases and improve the system in ways to expand treatment access.”