2026 China HoFH Patient Survival Status Survey Report Release Conference - [Roundtable Discussion]

In the first roundtable discussion,Director Lin Jie reflected on her28-year medical career. At the end of the last century, she treated her first young patient at Anzhen Hospital, who was only twelve years old at the time. "Unfortunately, he didn't even finish his adolescence," Director Lin Jie said. In those days, doctors would hardly be able to detect a condition unless the patient actively sought treatment at Anzhen Hospital; the hassle of traveling to Beijing for treatment, coupled with repeated misdiagnosis of xanthoma, often resulted in the superficial symptoms being treated repeatedly, while deeper cardiovascular and developmental problems were repeatedly delayed.

"Times have changed,"said Director Lin Jie.She noted that Anzhen Hospital has long adhered to multidisciplinary team (MDT) collaboration,but she also admitted that many...HoFHWhen patients are diagnosed, they already have significant cardiovascular disease, and there is limited room for medical intervention, so they often "go straight to surgery".

Chief Physician Gong Chunxiu focused on the timing of medication. She recalled that when she exchanged ideas with her Hong Kong colleagues in her early years, they were able to start medication as early as possible after the genetic diagnosis, while at that time, mainland doctors "did not dare to use it."

She urged that treatment should begin as soon as possible after a definitive diagnosis.She also cautioned that environmental and socioeconomic factors are changing the face of the disease—obesity was rare twenty years ago, but now there are significantly more children with dyslipidemia, and dietary interventions are difficult to maintain in the long term. Both doctors and patients need to re-examine treatment strategies.

Director Bingyan Cao It emphasizes the importance of multidisciplinary collaboration and dynamic review.She mentioned, "Some children only decide to undergo further examination after coronary artery changes are detected on echocardiograms, so they may still need dynamic follow-up.Once changes occur,multidisciplinary team (MDT) treatment in conjunction with cardiology is necessary."

Dr. Rui Li added  from  a  research  perspective : "A  child  is  not  simply a miniature adult." He pointed out that...childOff-label useBoth  specialized  clinical  trials and  other approaches are likely to become important driving forces in the future.

In her speech, Chen Nazhen repeatedly urged patients to pay attention to evidence-based medicine. "It truly is an invisible killer; if it is a killer, it is extremely deadly and dangerous, so we should take preventative measures," she frankly stated."This report was hard-won; behind the 122 samples lies the organization's repeated efforts of 'going to both sides'."

Wang Xiaoxia, a patient ambassador for Hongmili and a parent of a child with HoFH, shared her personal experience from a family perspective. As a parent of a child with HoFH, she deeply understands the pressure of every step in the diagnosis, medication, and long-term management process. She stated, "I traveled all over the country with my child. At first, I was hesitant to give my child medication, but later I realized that this was indeed very, very urgent, so I didn't hesitate any longer and started giving my child medication." She also offered her advice:Adhere to the doctor's instructions for treatment, communicate more with other patients, minimize information gaps as much as possible, and actively participate in registration to allow more people to see real-world data.

Professor Jianping Li appealed  during  the  discussion :   PCSK9  inhibitors Wait  for  innovative  drugs  to  be  included  in  medical insurance and explore multiple payment methods;Conduct medical education and public science popularization to improve the ability of primary care physicians to identify febrile diseases (FH); establish a linkage mechanism with patient organizations to accelerate clinical trials of new drugs.

Associate Professor Zhang Yudi pointed out the value of this survey, believing thatThis HoFH report can serve as compelling evidence for dissemination to a “key minority” such as policymakers, and can help with policy advocacy.

Jinchuan Guo, Information Research Director of the Beijing Pain Challenge Foundation,pointed out the payment difficulties faced  by patients' families: commercial insurance does not cover pre-existing conditions.HuiminbaoRestrictions are gradually tightening, and special funds are not included in the legislative plan;2025The medical insurance fund still hasYearSurplus, efficacy/financial risk-sharing mechanisms may become a breakthrough for the accessibility of innovative drugs.

Meier SMA Care CenterExecutive Director Ms. Huanping Xing  believes that including drugs in medical insurance is not the end goal. For example, even after SMA is included in medical insurance, there are still long-term issues such as reimbursement and drug accessibility, requiring continuous efforts. She also offered the following suggestions for patients:Regular follow-ups should generate health economics evidence (such as new drugs being cheaper than old treatments); active participation in registration should be encouraged to form a collaborative effort; "hidden benefits" such as public medical care, employer-provided supplementary insurance, and veterans' insurance should be explored; commercial medical insurance with coverage should be pursued when necessary, and universal health insurance should be purchased consistently.

Paying attention to people with rare diseases is never a one-way street; it requires multi-dimensional efforts, including scientific research, diagnosis and treatment, access, protection and social support.

Thank you to every expert, every patient's family, and all friends who care about the HoFH community. May this report be a ray of light, allowing more neglected lives to be seen, connected, and protected.