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

Autor: Tycho R. Tromp, M. Doortje Reijman, Albert Wiegman, G. Kees Hovingh, Joep C. Defesche, Merel C. van Maarle, Inge B. Mathijssen
Přispěvatelé: Amsterdam Reproduction & Development (AR&D), Human genetics, Graduate School, Vascular Medicine, ACS - Atherosclerosis & ischemic syndromes, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Experimental Vascular Medicine, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, ARD - Amsterdam Reproduction and Development
Rok vydání: 2022
Předmět:
Zdroj: Journal of clinical lipidology, 17(2), 291-296. Elsevier BV
Tromp, T R, Reijman, M D, Wiegman, A, Hovingh, G K, Defesche, J C, van Maarle, M C & Mathijssen, I B 2023, ' Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations ', Journal of clinical lipidology, vol. 17, no. 2, pp. 291-296 . https://doi.org/10.1016/j.jacl.2022.12.006
ISSN: 1933-2874
Popis: 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.
Databáze: OpenAIRE
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