20.500.12556/DiRROS-29662 Imputation of untreated LDL-C in treated subjects with homozygous familial hypercholesterolaemia an international collaboration Background and aims: Diagnosis of Homozygous Familial Hypercholesterolaemia (HoFH) relies on untreated low-density lipoprotein-cholesterol (LDL-C) which is often unknown. We determine whether untreated LDL-C can be imputed from treated LDL-C in HoFH. Methods: Two groups with HoFH were identified: Group 1 (n = 193) from Canada, Brazil and South Africa; Group 2 (n = 206) from the HoFH International Clinical Collaboration. Pre- and post-treatment LDL-C and lipid lowering therapy (LLT) intensity from Group 1 were used to develop a regression model and applied to treated LDL-C in Group 2 to impute pre-treatment LDL-C. The same process was performed in reverse. A final imputation model was created from combining both groups. Results: There was a curvilinear relationship between the expected and observed % lowering of LDL-C on LLT (r = 0.3923, p < 0.0001, Standard Error [SE] = 23 %). Using this relationship, LDL-C was imputed from treated values and showed significant correlation with pre-treatment LDL-C (r = 0.71, p < 0.001; mean values 13.4 ± 4.7 [Standard Deviation] and 13.6 ± 7.3 mmol/L, respectively, ns). Concordance between actual and imputed values ≥ 10 or <10 mmol/L was 80 %. Whereas 36 % of patients had treated LDL-C ≥ 10 mmol/L, 64 % had treated or imputed pre-treatment LDL-C ≥ 10 mmol/L. Conclusions: In HoFH, the response to LLT can be quantified and used to impute untreated LDL-C from treated LDL-C. Imputation may augment awareness of possible HoFH in treated subjects lacking records of untreated LDL-C. homozygous familial hypercholesterolaemia low density lipoprotein-cholesterol imputation LDL-receptor lipid lowering therapy estimated untreated low-density lipoproteincholesterol true false true Angleški jezik Ni določen Neznano 2026-06-02 14:01:14 2026-06-02 14:01:15 2026-06-03 03:56:39 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 1. 6. 2026; str. 1-7 [article no.] 120590 Vol. 412 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.1 1879-1484 10.1016/j.atherosclerosis.2025.120590 280043011 RAZ_Mancini_John_2026.pdf RAZ_Mancini_John_2026.pdf 1 DC9037EF214D7A375EB011D7623FFEFF 453842798042309b03b4b068fcecfce6a657bbd4df859eaaa33dfc38eefe4f9d edcf6342-5e7a-11f1-8e51-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44546 https://www.atherosclerosis-journal.com/article/S0021-9150(25)01488-1/fulltext 1 c29db68b-5e7a-11f1-8e51-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44544 Univerzitetni klinični center Ljubljana 0 0 0