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Review
. 2023 Mar-Apr;17(2):291-296.
doi: 10.1016/j.jacl.2022.12.006. Epub 2022 Dec 24.

Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations

Tycho R Tromp  1 , M Doortje Reijman  2 , Albert Wiegman  2 , G Kees Hovingh  1 , Joep C Defesche  3 , Merel C van Maarle  3 , Inge B Mathijssen  4
Affiliations
Free article
Review

Counseling couples at risk of having a child with homozygous familial hypercholesterolemia - Clinical experience and recommendations

Tycho R Tromp et al. J Clin Lipidol. 2023 Mar-Apr.
Free 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.

Keywords: Genetic counseling; Homozygous familial hypercholesterolemia; Pre-implantation genetic testing; Pregnancy; Prenatal diagnosis.

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Conflict of interest statement

Declaration of Competing Interest AW has received consulting fees from Novartis, is chair of the Steering Committee for the ORION-13 and ORION-16 trial, received payment or honoraria from Amgen, Regeneron and Novartis, and participated on a Data Safety Monitoring Board or Advisory Board of Amgen. GKH reports research grants from the Netherlands Organization for Scientific Research (vidi 016.156.445), CardioVascular Research Initiative, European Union and the Klinkerpad fonds; institutional research support from Aegerion, Amgen, AstraZeneca, Eli Lilly, Genzyme, Ionis, Kowa, Pfizer, Regeneron, Roche, Sanofi, and The Medicines Company; speaker's bureau and consulting fees from Amgen, Aegerion, Sanofi, and Regeneron until April 2019 (fees paid to the academic institution); and part-time employment at Novo Nordisk A/S, Denmark since April 2019. TRT, MDR, JCD, MCvM and IMA declare no conflicts of interest.

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