Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait
Robert A. Hegele · 2026
Read Heterozygosity for pathogenic variants in familial chylomicronemia syndrome genes: from carrier state to complex trait by Robert A. Hegele (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13336707.txt.
Description
Robert A. Hegele reviews evidence from the past 18 months in a 2026 article on carrying one faulty copy of genes behind familial chylomicronemia syndrome. Two faulty copies of any of five genes cause that rare, severe fat-clearing disorder. Carriers of a single copy are far more common, and their health effects were long unclear.
Follow-up studies show carriers range from normal fat levels to severe highs that swing over time. Carrying one copy accounts for 15–25% of cases of the broader multifactorial form of the syndrome in the cited work. Some variants actively interfere rather than simply halving function. Hegele draws lessons for family screening, counseling, and picking patients for new apoC-III drugs.
Catalog record
| CREATOR | Robert A. Hegele |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 25013 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |