Adult patients experienced an average delay of up to 18 years from onset of symptoms (yellow tumor) to diagnosis, with a median age of 27.5 years.

The median age of diagnosis in children has been raised to 4 years, with symptoms delayed by only 1 year, showing significant intergenerational improvement.

Children were diagnosed about 23.5 years earlier than adults, suggesting that awareness and screening conditions have improved significantly in recent years.

Median baseline low-density lipoprotein cholesterol (LDL-C) was 13.8 mmol / L, four to five times the normal

Despite a reduction of approximately 50% after treatment, the overall LDL C achievement rate was only 3.5% (after excluding liver transplantation).

More than 95 percent of patients are far from safe levels

● The patient population has a median age of only 23 years and suffers from atherosclerotic cardiovascular disease （ ASCVD ）。The overall incidence rate has reached 33.6%, and among adults it is even higher—at 59.1%.

● Carotid artery plaques were detected in an overall rate of 75.0%, and in adults, the rate was 95.8%.

● The median age for coronary stents, bypasses and valve replacements is concentrated at 32-35 years, about 30 years earlier than in the general population.

Nearly half of households (48.1%) face catastrophic health care spending

● The monthly income of the patient's family was 7,667 yuan, while the average monthly expenditure was 5,973 yuan, and the expenditure accounted for 77.9% of the income.

● The reimbursement rate for basic medical insurance is limited, with the overall self-paying rate reaching 66.4% and the self-pay for children reaching 71.1%

● Commercial insurance reimbursement is only 6.3 percent, charitable donations are only 4.5 percent, and a multi-tiered insurance system has not yet been established

As a genetic disease, familial screening coverage is only 3.3%, far from becoming a standard procedure for HoFH diagnosis and treatment.

21.3% of patients have no relatives in their families who have been diagnosed

The HoFH gene test will be included in the medical insurance, the national genetic test results shared digital library will be established, and the variation interpretation standard will be unified.

We should give priority to incorporating Lometap and other new drug treatments for severe rare diseases that lower lipid levels into the national health insurance negotiation process and the “dual channel” management system。Promote the speedy marketing of new mechanism drugs such as ANGPTL3 inhibitors;We have expanded the range of indications for children—children under the age of 12 now account for nearly 50 percent of cases.

HoFH is separately included in the Ambulatory Special Disease Management List, using clinical phenotype and genetic test results as the core basis for identification, and does not prescribe ASCVD complications, so that minor patients can receive reimbursement early.

Establish an innovative payment mechanism of "health insurance, benefit-for-people insurance, commercial insurance and multi-party payment," introduce treatment-effectiveness payments, cap annual costs, and set a ceiling for individual self-payments; Drawing on the rare disease protection models of Japan and Taiwan, provide a final safety net for patient families.

We will build a whole-chain patient support system of "pre-diagnosis science-treatment support-long-term management," publish a national HoFH diagnostic and treatment resource map, improve the registration and follow-up system, and promote the establishment of a tripartite communication channel between medical institutions, patient organizations, and government departments.