There is not much information on cold agglutinin disease, “If you have found the way, then you must open the door”

[Newsmp]
 

The call has been made to raise awareness of cold agglutinin disease (CAD), which is difficult to search for even on the internet.

It is pointed out that even though CAD is a more serious disease than cancer, with a 5-year mortality rate of up to 40%, it is not even assigned a diagnosis code, so it is placed in a blind spot for treatment.

Sanofi-Aventis invited Professor Jang Jun-ho of Samsung Medical Center’s Hematology-Oncology Department to hold a media session on the rare disease CAD at the Oakwood Premier COEX Center in Seoul on Wednesday.

 
Cold agglutinin disease is one of the autoimmune hemolytic anemia (AIHA), which recognizes red blood cells as external substances and destroys red blood cells by attaching complements in the human body.

CAD accounts for about 15% of autoimmune hemolytic anemia, and the complement attacks red blood cells when the body temperature falls below normal.

Due to the continuous and repetitive destruction of red blood cells, severe anemia and fatal thromboembolism can occur, making it difficult to lead a normal life, and the 5-year mortality rate reaches 40%.

Despite its severity, both the patients and medical professionals often have little knowledge of this disease.

Professor Jang pointed out that patients with CAD are often misunderstood when they complain of severe fatigue, and may even be mistaken for having a mental illness. 

“CAD is an extremely rare disease,” he said. “It is so rare that it is difficult to find information worldwide.”

“It is estimated that there will be about 100 patients in Korea,” he said. “Since it is a disease that is hard to encounter patients even in large hospitals, it is difficult to suspect CAD even if a patients visit.”
 
Although it is a disease that is difficult to encounter even in large hospitals, he pointed out that the only solution is to quickly find a large hospital if the cause of the anemia cannot be found.

Professor Jang said, “If one suspects CAD, the diagnosis is not difficult. Since the diagnostic method is not difficult, one can diagnose it immediately when the symptoms of anemia do not resolve."

The problem is that there is no specific treatment for CAD even if you are diagnosed with it.

As of now, treatment for CAD involves supportive care, including avoiding cold exposure and receiving repeated blood transfusions to replace the depleted red blood cells.

However, according to Jang, avoiding cold in real life is unrealistic for patients who are burdened with continuous and repetitive blood transfusions and whose red blood cells can be destroyed even by cold air from the refrigerator.

He emphasized the need for an alternative as anticoagulants cannot prevent thromboembolism above all, the leading cause of death in patients with CAD.

Previously, there was no cure, but recently, with the emergence of drugs that block the complement, there is an opportunity for patients with CAD to live the same life as the general public.

Professor Jang explained that diseases caused by complement, such as paroxysmal nocturnal hemoglobinuria (PNH), can be lived with no symptoms if the complement is blocked, saying, “Especially in the current reality where blood supply is difficult, treating CAD with complement therapy can reduce the demand for blood transfusions."

“In the case of CAD treatment (approved overseas), the price is cheaper than PNH treatment, so it can be covered with only about one-fifth to one-tenth of the finance required for PNH” Jang said. “The cost of PNH treatment has recently decreased, and it should be used to help marginalized patients.”

However, Professor Jang pointed out that it is not easy to introduce CAD treatment as a treatment for a rare disease, as in the case of PNH.

He said that "because CAD is not even assigned a diagnosis code at present, it cannot even go through the fast-track approval process," and that "as a result, even though complement-targeted therapies have emerged overseas, they are not being imported."

“Now we know the disease, so we need to find a solution,” Jang said. “Awareness of rare disease needs to change.”