Recent SBS drama “Doctor John” and MBC’s “Partners for Justice Season 2” used Fabry disease as the key material for stories, drawing viewers’ attention to the rare disease.

In “Doctor John,” protagonist Cha Yo-han (played by Ji Sung) diagnoses a convict’s symptoms as Fabry disease, treats him, and saves his life. In “Partners for Justice Season 2” which ended on Monday, lead character Baek Beom (Jeong Jae-young) discovers a treatment for Fabry disease at the house of the killer Jang Cheol (Noh Min-woo) and finds out that Jang suffers from the rare disease.

Posters of MBC drama “Partners for Justice Season 2” (left)n and SBS drama “Doctor Joh”

Fabry disease occurs due to the deficiency of an enzyme called alpha-galactosidase A. The enzyme deficiency causes other glycolipid ceramide trihexoside (GL-3) to accumulate in cells and organs, bringing down the functions of various cells.

The disease’s symptoms, such as reduced sweat, vascular keratosis, limb pain, and abdominal pain, could be misunderstood as a factitious disorder. However, Fabry disease causes serious complications such as cardiovascular disease, stroke, and kidney failure. A severe case may be fatal.

Fabry disease is inherited in X chromosome links. A father with the disease passes his X chromosome to all of his daughters. A mother affected by Fabry disease has a 50 percent chance to pass her affected X chromosome to her child, regardless of the child’s sex.

The probability of developing a Fabry disease is one-117,000th, which makes it extremely difficult to detect the disease. It could take over 15 years from the onset of the illness to a diagnosis. In Korea, physicians estimate there will be 400-1,000 patients, but only about 150 patients have been reported to date.

Treatments for Fabry disease include enzyme replacement therapy (ERT) where alpha-galactosidase A is administered intravenously. The condition needs a lifetime treatment but is manageable.

ERT requires a hospital visit and hours of intravenous administration per visit. Depending on the patient’s condition, physicians may use antihistamines to alleviate adverse drug effects.

Authorized treatments in Korea include Genzyme’s Fabrazyme Injection (ingredient: agalsidase beta), Shire Pharma’s Repragal Injection (agalsidase alfa) and oral drug Galafold Cap. (migalastat) which widened treatment options.　

Developed by U.S.-based Amicus Therapeutics, Galafold is the world’s first and only oral treatment for Fabry disease. It can be taken once every other day, at the same time of day.

Fabry disease as a drama material raised awareness of the disease, but it still takes too much time until diagnosis in Korea, experts said.

In some cases, the disease may be misunderstood as a kidney disease due to symptoms such as microalbuminuria and proteinuria. A local case report showed that a patient with focal segmental glomerulosclerosis was later diagnosed with Fabry disease.

Fabry Society under the Korean Society of Nephrology is most actively working for early detection and treatment of Fabry disease. The society emphasizes the importance of early diagnosis and ERT. It has completed guidelines for Fabry disease diagnosis and treatment.

lhs@docdocdoc.co.kr

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