Potential barriers to reverse cascade screening combined with universal cholesterol screening for paediatric familial hypercholesterolemia: focus on second-degree relatives of a proband

• DOI: 10.20517/rdodj.2024.50
• Publication Date: 2025-05-09T03:25:02Z
• Authors: Ryosuke Tani; Keiji Matsunaga; Tomoko Inoue; Katsufumi Nishioka; Kanako Irie; Sonoko Kondo; Takashi Iwase; Hai Ying Fu; Shigeru Ito; Tsuyoshi Sasaki; Sumiko Yoshida; Ichiro Yokota; Yoichi Hoshikawa; Katsunori Yokoyama; Takuji Fujisawa; Hayato Tada; Masayuki Takamura; Takashi Kusaka; Tetsuo Minamino
• Keywords: Proband; Degree (music)

Aim: Familial hypercholesterolaemia (FH), an autosomal-dominant disorder, requires early diagnosis to prevent atherosclerosis in children and coronary artery disease (CAD) their parents. This study aimed evaluate the effectiveness barriers of reverse cascade screening (RCS) combined with universal cholesterol (UCS) for paediatric FH. Methods: We performed RCS UCS FH between January 2018 July 2023. Family pedigree was evaluated second-degree relatives, using a child genetic as proband. Based on 2022 Japan Atherosclerosis Society clinical guidelines, cases suspected were classified into four categories: “Definite”, “Probable”, “Possible”, or “Unlikely”. Those who did not complete diagnostic process based reasons, including challenges such “Untested lipids children”, “Bereavement”, “CAD unspecified details”, “Dyslipidaemia low-density lipoprotein (LDL-C) levels”, “No information CAD dyslipidaemia”. Results: Of 252 patients having FH, 94 completed process. Among them, 49 “Definite” cases, predominantly among first-degree relatives. In contrast, 158 process, most common being LDL-C levels” dyslipidaemia”, particularly Conclusion: testing is effective asymptomatic cases. However, addressing that hinder diagnosis, difficulties approaching critical improving rates.