On September 20, 2025, The 1st Chinese Conference on Familial Hypercholesterolemia initiated and hosted by FH China Patient Network with collaborative support from CORD (Chinese Organization for Rare Diseases), successfully concluded in Wuhan.

Leading FH clinical experts, authoritative scholars, FH patients and their families, corporaterepresentatives, and other stakeholders gathered together to engage in in-depth discussions on a comprehensive range of topics—from pediatric to adult care, diagnosis to treatment, medications to psychological support.

Relive the highlights of the conference with our written coverage!

Opening Remarks

Kevin Huang, Founder & Director of CORD (Chinese Organization for Rare Diseases), Co-Founder & Secretary General of the Hope for Rare Foundation

In his speech, Director Huang pointed out that the FH patient community has longfaced significant challenges and lacks widespread public awareness. In recent years, driven by FH China Patient Network, patients, families, and various stakeholders have worked closely together to gradually establish a comprehensive support system encompassing patient services, doctor-patient collaboration, research funding, and drug development.

He emphasized that FH is a potentially serious condition, and many young patients have losttheir lives due to insufficient disease awareness and poor treatment adherence. He called on everyone to remain vigilant, strengthen unity, actively participate in activities organized by the patient network, and collectively confront the challenges of the disease, advancing toward a more hopeful future through collective action.

Zhuang Tian, Director and Chief Physician, Department of International Medical Services, Peking Union Medical College Hospital

Although Dr. Zhuang Tian was unable to attend the event in person, she deliveredher sincere greetings to the conference via an online message.

Dr. Tian stated that FH is the primary factor leading to atherosclerosis, and understanding and mastering its diagnosis and treatment are of great significance for both clinicians and the broader FH patient community. She expressed her hope for more collaboration with patient organizations in the future, so that more FH patientscan benefit!

Partner organizations of the international FH community also sent warm greetings.

Ms. Magdalena Daccord, CEO of the FH Europe Foundation

Ms. Magdalena Daccord, CEO of the FH Europe Foundation, addressed the 1st China FH Conference, extending congratulations to organizers and participants. She hailed the event as a milestone in building national awareness and support for families affected by familial hypercholesterolemia (FH) and related lipid disorders.

She highlighted FH Europe's advocacy and research initiatives, welcomed China's growing role in these global efforts, and underscored the importance of partnership. To that end, she expressed eagerness to deepen collaboration with Chinese patient leaders, clinicians, and experts, proposing a future joint roundtable in China.

Mr. Bill Klein, Senior Patient Ambassador of the Us Family Heart Foundation

Ms. Anna Andrea Böhm, President of the Austrian FH patient organization

Mr. Bill Klein, Senior Patient Ambassador of the Us Family Heart Foundation and Ms. Anna Andrea Böhm, President of the Austrian FH patient organization, sent their best wishes to the conference from afar through the cloud, despite the thousands of miles that separate them.

Xin Wang, a representative of patients with HoFH, shared her personal story of connecting with FH China Patient Network, expressed her gratitude for the organization’s selfless support to FH patients, and sincerely wished great success for The 1st Chinese Conference on Familial Hypercholesterolemia & Integrated Patient Support Event!

Jenna, Chen, Founder of Homy FH China Patient Network

Jenna Chen expressed her gratitude to the speakers and sincerely stated that the growth of FH China Patient Network would not have been possible without the support and assistance from friends across all sectors. Today, experts, scholars from various cities across China, as well as partners from Europe, the United States, and Austria, have gathered here in person and online. Their encouragement and support have given her the confidence and courage to move forward. Hosting The 1st Chinese Conference on Familial Hypercholesterolemia & Integrated Patient Support Event this year, with collaborative support from CORD (Chinese Organization for Rare Diseases), is undoubtedly a major milestone for FH China Patient Network. Moving forward, we will continue our efforts to benefit even more FH patient families!

Theme 1:
Current Status and Advances in the Diagnosis and Treatment of HoFH

Gulinigaer, a patient with Homozygous Familial Hypercholesterolemia (HoFH) and Patient Ambassador of FH China Patient Network

Gulinigaer shared her story titled "From Kuche to Beijing: Solving the Mystery Written on My Skin Over Twenty Years." As she recounted her journey toward diagnosis and the challenges she faced along the way, many fellow patients with similar experiences were reminded of their own difficult paths to medical care, creating a deep sense of resonance.

Over the past two decades, Gulinigaer has never stopped moving forward—from her determination to leave Xinjiang, to seeking treatment in the capital city, and finally participating in a cutting-edge clinical trial in December 2024. She has now passed the double-blind phase and is currently receiving treatment. She firmly believes that advances in medicine will ultimately conquer HoFH, and that every patient can achieve a healthy life!

Chaochun Zou , Chief Physician, Department of Endocrinology, Children's Hospital, School of Medicine, Zhejiang University

Professor Zou delivered a detailed presentation on "Current Status of Diagnosis and Treatment for Pediatric Familial Hypercholesterolemia." He introduced the pathogenesis, clinical manifestations, and currently available treatment options for FH, emphasizing the critical importance of early diagnosis and timely intervention.

Jun Zhang , Associate Chief Physician, Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University

Professor Jun Zhang delivered an online presentation titled "Guarding the Heart and Vessels: Exploring the Diagnosis and Treatment of Pediatric Homozygous Familial Hypercholesterolemia (HoFH)." She systematically explained the genetics and pathophysiology of HoFH, as well as the clinical manifestations in children. Advocating for a multimodal treatment approach aimed at achieving LDL-C (low-density lipoprotein cholesterol) targets, she called for the implementation of pediatric lipid screening and the establishment of a patient registry system to enable early detection, early diagnosis, and early treatment.

Jie Lin, Chief Physician, Department of Cardiology, Beijing Anzhen Hospital, Capital Medical University

Professor Jie Lin delivered an in-depth presentation on "Advances in the Diagnosis and Treatment of HoFH in China." Starting with how FH gene mutations lead to severe clinical manifestations, she shared typical clinical cases and emphasized the critical importance of genetic cascade screening within HoFH families. She also discussed the evolution of lipid-lowering therapies, highlighting the transition from Statins and combination treatments to novel targeted therapies and gene therapies, which are bringing new hope to patients with HoFH.

Theme 2: Release and Interpretation of the "Research Report on the Psychosocial Status of HoFH Patients"

The conference reached a significant moment—the official release "Psychosocial Status in Patients with Homozygous Familial Hypercholesterolemia (HoFH): 2025 Report." Witnessed by Professor Zhang Yudi from the Department of Sociology, University of Science and Technology Beijing, Jenna Chen, founder of FH China Patient Network, and representatives of HoFH patients, this report, which reveals the real-life challenges faced by HoFH patients, was formally launched.

Yu-Di Zhang, Associate Professor, Department of Sociology, University of Science and Technology Beijing

In his subsequent in-depth interpretation, Professor Yu-Di Zhang spoke emotionally: “Behind these data are real individuals—real souls longing to be understood. The report shows that our patients are not only battling their disease, but also enduring tremendous psychological pressure and challenges in social adaptation. Today, we must not only pay attention to patients' lipid levels, but also truly see their smiles and their tears.”

Theme 3: The FH Treatment Revolution

Zhaozhao Song, a patient with Homozygous Familial Hypercholesterolemia (HoFH) and Patient Ambassador of FH China Patient Network

Zhaozhao Song shared his story under the theme "Cholesterol That Won't Fall, But a Spirit That Won't Be Broken," showcasing the courage and determination of FH patients living with their condition.

He first introduced his journey—from the discovery of xanthomas to trying various treatment methods. At the age of 28, a coronary CT scan revealed a 60% blockage in his right coronary artery, and his doctor recommended stent placement. Through relentless effort, he sought out new therapies and enrolled in a clinical trial. Although the first trial had limited effectiveness, this did not dampen Zhaozhao’s resolve to keep moving forward.

Currently, Zhaozhao is awaiting his second gene therapy. He believes that although rare diseases are uncommon, love and science are never absent. Cholesterol may be hard to lower, but it will never break our spirit.

Zhuang Tian, Director and Chief Physician, Department of International Medical Services, Peking Union Medical College Hospital

Dr. Zhuang Tian delivered an online presentation providing a systematic review of "The History of FH Treatment Development." Using cholesterol metabolism and lipid-lowering therapeutic targets as entry points, she explained the epidemiology, treatment goals, and principles of FH, clearly outlining the evolutionary journey of FH treatment strategies.

Chen-Bo Xu, Attending Physician, Department of Cardiovascular Medicine, The First Affiliated Hospital of Xi’an Jiaotong University

Dr. Chen-Bo Xu shared insights on "Advances in Gene Therapy for Homozygous Familial Hypercholesterolemia," introducing the common disease-causing genes of FH and comparing the lipid-lowering efficacy of different medications and treatment approaches. Starting from the mechanism of action of gene therapies, she discussed the current status of results of their clinical trials, offering new hope for patients.

Ping Wan, Associate Chief Physician, Renji Hospital, School of Medicine, Shanghai Jiao Tong University

Dr. Ping Wan delivered a presentation titled "Familial Hypercholesterolemia: Liver Transplantation and Gene Therapy," introducing the applications of liver transplantation and gene therapy in the treatment of FH. Through clinical case studies and data, he demonstrated the lipid-lowering efficacy of these different therapeutic approaches, offering important treatment options for HoFH patients who respond poorly to conventional therapies.

Roundtable Discussion 1: Current Treatment Challenges and Future Directions for HoFH

Moderated by Ms. Jenna Chen, founder of FH China Patient Network, patient representative Zhaozhao Song, clinicians Dr. Xu Chen-Bo and Dr. Wan Ping, along with industry representatives Dr. Guang Qu, Co-Founder and COO of Suzhou NovoGeneBio, and Ms. Guan Jing, Head of Rare Disease Medical Affairs at Chiesi Pharmaceutical Consulting (Shanghai), engaged in an in-depth discussion on core challenges in HoFH care, including current diagnosis and treatment landscape, drug accessibility, and innovative therapies.

Mr. Zhaozhao Song shared the practical difficulties he encountered during treatment. Using liver transplantation as a starting point, Mr. Song recalled that although his doctor had proposed liver transplantation as a treatment option, the high cost was unaffordable for his family, and the waiting time for a donor liver added further uncertainty, leaving him feeling helpless and hopeless at the time.

Dr. Wan Ping shared insights on which HoFH patients are better candidates for liver transplantation and whether there are age limitations for the procedure. Dr. Xu Chen-Bo discussed the relevant experience and progress of gene therapy trials conducted at the First Affiliated Hospital of Xi’an Jiaotong University. Dr. Guang Qu spoke about the opportunity and motivation behind introducing AAV vector-based gene therapy into the HoFH field. Ms. Guan Jing from Chiesi Pharmaceuticals highlighted the role and positioning of Lomitapide in the treatment of HoFH patients in China.

During the Q&A session, attending patients discussed post-transplant survival outcomes and the accessibility of gene therapy for children with the panelists, gaining a new and comprehensive understanding of the various treatment options available for HoFH.

Theme 4: Current Status of HeFH Diagnosis and Treatment, and Prevention & Screening

Yu-Jiao Chen, Ambassador of FH China Patient Network, with Heterozygous Familial Hypercholesterolemia (HeFH)

Yu-Jiao Chen shared her story under the theme "The Emotional Journey of a Young Female HeFH Patient," recounting her diagnostic and treatment experience. She spoke about her personal transformation—from struggling to accept lifelong medication to developing healthy disease management habits. She also addressed common concerns among female patients regarding fertility, allowing many young patients in the audience to see reflections of their own experiences and creating a strong sense of resonance.

Chen emphasized that current advances in third-generation in vitro fertilization (IVF) technology offer new options for families wishing to have children. At the same time, she noted that parents’ experience in managing their own condition can help their children better manage FH, and that parents need not feel excessive anxiety or guilt.

Su Wu, Associate Chief Physician, Department of Endocrinology and Genetic Metabolism, Children's Hospital Affiliated to Nanjing Medical University

In her presentation titled "Facing FH: Be Proactive," Dr. Su Wu shared her insights from the perspective of a pediatrician on managing children with FH, with a particular focus on patients with HeFH.

Dr. Wu stated that the first major challenge in clinical practice is helping patients understand and value disease management. Early intervention and proper management of FH are critically important and can truly enable patients to benefit in the long term.

Wei-Li Yan, Director of the Clinical Trials Center, Children's Hospital Affiliated to Fudan University, National Children's Medical Center

Dr. Wei-Li Yan shared her insights on "Exploring a Family-Based Early Screening and Management Model for Familial Hypercholesterolemia," presenting a practical framework for early family-wide screening for FH. The proposed model is currently being implemented, with the goal expected to be achieved within 2025. She expressed confidence that the model will soon be widely applied at the grassroots level.

Ming-Wang Shen, Professor, Department of Epidemiology and Health Statistics, School of Public Health, Xi’an Jiaotong University

Professor Ming-Wang Shen presented a health economic analysis titled "Cost-Effectiveness of Using Genetic Testing to Screen for Familial Hypercholesterolemia in China," from the perspective of health economics. The results showed that screening individuals aged 18 to 40 is highly cost-effective, with earlier screening yielding greater cost-efficiency. This finding provides important evidence to inform future public health policy decisions.

Roundtable Discussion 2:
Multi-Stakeholder Collaboration to Advance FH Diagnosis, Treatment, and Screening in China

Moderated by Ya-Ni Wang, Academic Project Manager of the Patient Services Department at FH China Patient Network, patient representative Yu-Jiao Chen, clinical experts Dr. Su Wu and Dr. Wei-Li Yan, and researcher Professor Ming-Wang Shen engaged in an in-depth discussion on the successful pathways, essential conditions, and potential challenges and barriers in implementing cascade screening. The panel reached multiple consensus points on establishing a comprehensive screening system, refining diagnostic criteria, and strengthening post-screening management.

Theme 5: The Power of Patient Organizations

Yu Boya, Project Manager at the Hope for Rare Foundation

Mr. Yu Boya delivered a keynote speech titled "How Patient Organizations Can Drive Drug Development," highlighting the significant roles that patients and patient organizations can play throughout the entire drug development process.

He also reviewed the collaboration timeline between the Hope for Rare Foundation and FH China Patient Network, and introduced the progress of their joint research grant program for FH. Mr. Yu stated that the project is expected to complete its review process by September 2025, and he expressed his hope that the outcomes will yield more scientific advancements to benefit the broader FH patient community.

Jenna Chen, Founder of FH China Patient Network

Delivered a sharing session titled "Combating the Silent Killer: The Path Forward for FH Patient Organizations," focusing on three key themes: "Why I Chose to Establish a Patient Organization," "The Comrades I’ve Met Along the Way in Building the FH Patient Community," and "The Future Direction of FH Patient Organizations."

Jenna Chen also shared three real-life stories from fellow patients, hoping to convey the message that although FH is a "silent killer," we do not have to remain silent—we can become a powerful, united voice.

Looking ahead, FH China Patient Network will continue to advance scientific research, promote policy improvements and implementation, and actively participate in the full cycle of drug development. Importantly, the organization will also focus on recruiting and nurturing patient ambassadors. She extended a warm invitation to patients, family members, healthcare professionals—including clinicians—and any educators or experts dedicated to FH to join as patient ambassadors. "Together, through our collective efforts, we can surely create a brighter, clearer future."

Ya-Ni Wang, Academic Project Manager, Patient Services Department, FH China Patient Network

Finally, Ya-Ni Wang introduced the "FH China Patient Registry System." Starting with the rationale for developing the patient registry, she briefly explained the significant value of establishing a comprehensive FH patient registry. She then provided a detailed overview of the system’s functions and the robust data security measures in place to protect patient information.

In closing, Ya-Ni Wang called on all FH patients to actively participate in the patient registration initiative, emphasizing that together, through shared data, they can jointly advance the diagnosis and treatment of FH, accelerate drug development, and advocate for stronger policy support.

Roundtable Discussion 3:
How Can Patient Organizations Drive and Participate in Research?

Moderated by Mr. Yu Boya, Project Manager at the Hope for Rare Foundation, Dr. Wu Su from Children's Hospital Affiliated to Nanjing Medical University, Jenna Chen and Wang Ya-Ni from FH China Patient Network, and Mr.Guolin Li, a patient representative with HoFH, jointly discussed the critical role of patient organizations in advancing scientific research. The panelists focused their conversation on the importance of basic research for clinical practice, the types of research activities patient organizations can undertake, and how patients can actively participate in driving research forward.

In closing, Jenna Chen shared the challenges and achievements encountered during the collaborative FH Research Special Project between FH China Patient Network and the Hope for Rare Foundation. She remarked, "Although the funding for the research grants is limited, we have received enthusiastic responses from many experts and scholars. More people are now willing to pay attention to and conduct research on FH—this is exactly the outcome we have been hoping for."

Conference Summary and Closing Remarks

Jenna Chen stated that this was the first conference ever organized by FH China Patient Network. She expressed her heartfelt gratitude to the Chinese Organization for Rare Diseases (CORD) for their invaluable support and assistance during the conference preparation, as well as to all the speakers, fellow patients, corporate partners, and the dedicated organizing team.

Although the scale of the inaugural Familial Hypercholesterolemia (FH) Conference and Patient Exchange Meeting was limited, she emphasized that the content was substantial and the agenda rich and comprehensive. "We are committed to continuing this effort," she said, "and will definitely organize a second conference. We look forward to gathering again with even more experts and patient friends in the future!"