Research on The Psychological Trauma of Diagnostic Delay in HoFH Patients and Meaning Reconstruction Started

Delayed diagnosis is a common challenge faced by patients with homozygous familial hypercholesterolemia (HoFH). Due to the rarity of the disease, limited awareness at the primary healthcare level, and scarce diagnostic resources, the average age of diagnosis for patients globally is 12 years, and in some regions, it even exceeds 16 years. This diagnostic delay results in prolonged exposure to high levels of low-density lipoprotein cholesterol (LDL-C), accelerating the progression of cardiovascular complications while exacerbating psychosocial burdens.

To delve deeper into the dynamic mechanisms of the unique psychosocial trauma experienced by HoFH patients due to delayed diagnosis, and to focus on the process of meaning reconstruction—whether initiated actively or passively—following prolonged misdiagnosis and eventual diagnosis, the Homy FH China Patient Network, in collaboration with the research team led by Associate Professor Zhang Yudi from the Department of Sociology at Beijing University of Science and Technology, initiated a study titled "The Psychological Trauma of Diagnostic Delay in HoFH Patients and Meaning Reconstruction" in December 2025. Concurrently, recruitment of study participants has commenced within the Homy FH China Patient Network community.

Research Participants：

Adult patients with HoFH diagnosed by a tertiary Grade A hospital, who have experienced significant diagnostic delay (the interval from the first medical consultation to confirmed diagnosis is ≥1 year, with two or more instances of misdiagnosis) and possess full narrative capacity.

(Note: "Two or more instances of misdiagnosis" refers to having been misdiagnosed by at least two different doctors or in two different departments.)

Research Method：

Online interviews will be conducted and recorded in their entirety with the consent of the patients.

Each interview will last 1–2 hours, focusing on four stages: "initial symptoms → medical consultation process → diagnosis moment → post-diagnosis."

Recruitment Target: 15 adult patients with HoFH

Current Progress:

As of December 15, online interviews have been completed with five adult HoFH patients.

We are conducting this study precisely to systematically document the lived experiences and unmet needs within this unique journey, thereby providing a robust foundation for advancing targeted social work support and improving the healthcare system. We believe that by recording and amplifying the voices of those affected, we can foster greater understanding and support from both society and the medical community, ultimately enhancing the quality of life for every individual living with HoFH.