AI Article Synopsis
- Homozygous familial hypercholesterolemia (HoFH) is a serious genetic disorder that leads to very high cholesterol levels, significantly increasing health risks.
- Couples who both have heterozygous familial hypercholesterolemia have a 25% chance of having a child with HoFH, prompting the need for informed reproductive decisions.
- This study highlights the importance of counseling from healthcare specialists, showing that one couple chose prenatal testing with a possible termination option, while another accepted the risk without testing, underlining the need for thorough preconception counseling.
Article Abstract
Homozygous familial hypercholesterolemia (HoFH) is a rare, potentially life-limiting, inherited disorder of lipoprotein metabolism characterized by extremely high low-density lipoprotein cholesterol levels. When both parents have heterozygous FH, there is a 25% chance they will conceive a child with HoFH. Here we describe our clinical experience with two such prospective parent couples who were counseled regarding reproductive options and prenatal testing for HoFH. These cases showcase how, in consultation with a molecular geneticist and pediatric cardiologist, parents may be informed of the prognosis and treatment outlook of HoFH based on the FH-variants carried, to ultimately make personal decisions on reproductive options. One couple opted for prenatal testing and termination of pregnancy in case HoFH was found, while the other accepted the risk without testing. We review the available literature on preconception counseling for HoFH and provide practical guidance to clinicians counseling at-risk couples. Optimal counseling of prospective parents may help prevent future physical and psychological problems for both parent and child.
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| http://dx.doi.org/10.1016/j.jacl.2022.12.006 | DOI Listing |
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