First Korean book on rare liver disease PFIC published for patients and families

A groundbreaking popular book offering comprehensive information on Progressive Familial Intrahepatic Cholestasis (PFIC), a rare liver disease affecting approximately one in 100,000 newborns, has been released in South Korea. This marks the nation's first publication specifically tailored for PFIC patients and their families, aiming to improve understanding and treatment strategies.

The release was celebrated with a "PFIC Insight Book Talk" event in Seoul, attended by experts like Professor Ko Hong from Severance Hospital and Professor Heo Moon-haeng from Seoul National University Hospital. The event provided a platform for patients, families, and medical professionals to share their experiences and discuss the realities and challenges of living with rare liver diseases, including PFIC, Primary Biliary Cholangitis (PBC), Alagille syndrome, and Wilson's disease.

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In recent times, diagnostic and treatment environments in the field of rare liver diseases have been gradually improving, but many patients are still waiting for treatment opportunities.

PFIC, caused by genetic mutations, leads to impaired bile excretion and accumulation in the liver, resulting in symptoms such as itching, jaundice, growth delays, and liver damage. While 13 different forms exist, research and clinical practice in South Korea are relatively recent, with about 30 patients currently diagnosed. Treatment traditionally focused on symptom management, often leading to liver transplants for severe cases. However, the recent development of Odadvichibat (Bilvey), the first drug to directly treat key PFIC symptoms like itching, has significantly shifted treatment approaches.

Despite improved treatment accessibility with the drug's inclusion in national health insurance last year, challenges remain. Attendees at the book talk identified hurdles such as strict criteria for rare disease registration, including mandatory genetic testing, which can be a barrier for some patients whose symptoms are clear but genetic confirmation is elusive. Concerns were also raised about the National Health Insurance's policy of covering genetic testing only once in a lifetime, which conflicts with updated expert guidelines recommending periodic re-testing every two years to account for newly discovered genetic mutations. The PFIC patient association emphasized the need for societal attention and support to enable patients to live proactively, not just manage their condition.

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We expect that these changes will expand not only to PFIC but also to patients with various rare liver diseases such as PBC.