| Title: | Imputation of untreated LDL-C in treated subjects with homozygous familial hypercholesterolaemia : an international collaboration |
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| Authors: | ID Mancini, John (Author)
ID Ryomoto, Arnold (Author)
ID Ruel, Isabelle (Author)
ID Iatan, Iulia (Author)
ID Raal, Frederick J. (Author)
ID Santos, Raul D. (Author)
ID Grošelj, Urh (Research coworker), et al. |
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| Files: |  PDF - Presentation file, download (2,35 MB)
MD5: DC9037EF214D7A375EB011D7623FFEFF
 URL - Source URL, visit https://www.atherosclerosis-journal.com/article/S0021-9150(25)01488-1/fulltext
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | 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. |
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| Keywords: | homozygous familial hypercholesterolaemia, low density lipoprotein-cholesterol, imputation, LDL-receptor, lipid lowering therapy, estimated untreated low-density lipoproteincholesterol |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2026 |
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| Number of pages: | str. 1-7 |
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| Numbering: | Vol. 412, [article no.] 120590 |
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| PID: | 20.500.12556/DiRROS-29662  |
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| UDC: | 616.1 |
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| ISSN on article: | 1879-1484 |
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| DOI: | 10.1016/j.atherosclerosis.2025.120590 |
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| COBISS.SI-ID: | 280043011 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 1. 6. 2026;
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| Publication date in DiRROS: | 02.06.2026 |
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| Views: | 29 |
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| Downloads: | 14 |
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