Available online 24 December 2022

HoFH requires prompt diagnosis and intensive treatment to prevent CVD in childhood

Couples both carrying an FH variant run a 25% chance of having a child with HoFH

Prenatal genetic counselling for HoFH should be performed on a case-by-case basis

Clinicians should discuss all available diagnostic and reproductive options

Discuss treatment outlook considering FH genotype and weighing parental preferences

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 counselled 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.

Homozygous familial hypercholesterolemia

pregnancy

genetic counseling

prenatal diagnosis

pre-implantation genetic testing

© 2022 Published by Elsevier Inc. on behalf of National Lipid Association.