With the possibility for reimbursement coverage for the ultra-rare disease, transthyretin amyloid cardiomyopathy (ATTR-CM) rising, excitement is also rising in the clinical site.

Due to the short life expectancy of ATTR-CM - 2-3.5 years after diagnosis – and no clear treatment option available, the benefits of a new treatment option are expected to be significant.

As an extremely rare disease with a small number of patients, challenges still remain in identifying and diagnosing patients early. Dailypharm met with Dr. Junho Hyun, Professor of Cardiology at Asan Medical Center in Seoul, to discuss Korea’s treatment environment for ATTR-CM and the changes made since the reimbursement of its treatment option.


ATTR-CM is a rare, progressive disease where a protein called transthyretin (TTR) misfolds and forms harmful amyloid deposits in the heart. Although it is caused by genetic issues, it can also occur with aging.

In particular, ATTR-CM is a rare disease that is most commonly found in patients over the age of 65, so experts believe its patient population could grow as Korea enters an aged society.

"The exact prevalence of ATTR-CM patients in Korea is unknown, but what is known is that it is expressed in a different form in Korea than in other countries," said Professor Hyun. "In the United States, the number of affected patients was identified through the patient registration system and the introduction of its treatment was also fairly quick. Korea needs to improve the overall treatment environment for ATTR-CM patients, including its management, diagnosis, and treatment," said Dr. Lee.

"The most common cause of cardiac amyloidosis is AL amyloidosis, followed by ATTR amyloidosis, so we test for these 2 possibilities at the time of initial diagnosis," he said. "We also use nuclear scintigraph to diagnose ATTR-CM, and then genetic testing to differentiate between the hereditary and wild-type. In some cases where nuclear scintigraphs are not available, we test the heart tissue."

According to Professor Hyun, the diagnosis of ATTR-CM patients in the United States is slowly increasing. He believes that this is due to increased awareness, which, like other diseases, has led to the development of treatments.

In the past, patients with hereditary ATTR-CM often died suddenly without knowing the cause of their disease due to low awareness, but early identification of patients has led to higher diagnosis rates the patients’ families can also be diagnosed and treated.

From a treatment standpoint, prior to the approval of Vyndamax (tafamidis) in 2020, the doctors had lacked options - using diuretics to relieve symptoms or carrying out heart and liver transplants.

However, despite the emergence of a treatment, its high price remains a hurdle. Recently, Vyndamax’s reimbursement agenda passed the review of the Drug Reimbursement Evaluation Committee of the Health Insurance Review and Assessment Service 4 years after its approval, leaving only drug price negotiations with the National Health Insurance Service.

"With a median survival of only 2-3 years, patients with ATTR-CM despair due to the fact that treatment options are available but unaffordable. It's very unfortunate that there is a cure, but it's not covered by insurance, which limits treatment," added Hyun.

While he understands the limitations that exist due to government budgets, Hyun believes that reducing mortality through early treatment of ATTR-CM patients is more cost-effective.

"In Korea, the deterioration of ATTR-CM symptoms slowed down or even improved in some cases in patients who used the drug through patient support programs. However, it is less effective if the timing of treatment is delayed due to delayed access and the disease progresses, so it is necessary to set reimbursement standards so that the drug can be used from an early stage in addition to patients with severe symptoms."

"ATTR-CM is like cancer in that it has a very short median overall survival, so it is very unfortunate that its treatment options are being restricted because it is a rare disease with a small number of patients," said Professor Hyun. "The medical gap that exists due to the high treatment cost is a social problem, which requires serious government consideration.”