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

Tromp, Tycho R.; Reijman, M.; Wiegman, Albert; Hovingh, G. Kees; Defesche, Joep C.; Maarle, Merel C. van; Mathijssen, Inge B.

doi:10.1016/j.jacl.2022.12.006

Cited by 3 publications

(2 citation statements)

References 18 publications

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“…In addition, the feedback and comparative data among the registry sites provided by the Family Heart Foundation, the foundation's guidance on navigating insurance requests for add‐on treatment, such as lomitapide, evinacumab, and PCSK9 inhibitors, and evidence‐based data on the negative cardiac impact that rejection of PCSK9 inhibitor treatment had on patients 23 all likely played a role in improving LDL‐C levels. As topics such as quality of life 39 , 40 and even pregnancy 41 , 42 , 43 are coming to the forefront of management of HoFH, the Family Heart Foundation and other patient‐centric advocacy groups will have invaluable roles in advancing better care for these patients.…”

Section: Discussionmentioning

confidence: 99%

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Cuchel

Lee

Hudgins

et al. 2023

JAHA

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Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment‐resistant disorder characterized by early‐onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a “real‐world” setting. Untreated low‐density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL; P =0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow‐up, despite multiple lipid‐lowering treatment, low‐density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid‐lowering treatments were prescribed for 18%; 40% were on no lipid‐lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid‐lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.

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Section: Discussionmentioning

confidence: 99%

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Cuchel

Lee

Hudgins

et al. 2023

JAHA

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“…Alternatively, prenatal screening and subsequent procedures that could influence reproductive decisions and management may be available [25], including chorionic villus biopsy, amniocentesis, and preimplantation genetic testing prior to assisted reproductive technology implanting unaffected embryos. A recent publication described the very personal and difficult decisions made by two women with HeFH about the initiation and continuation of their pregnancies and offered several recommendations for clinicians [26].…”

Section: Preconception Prenatal and Pre-implantation Fh Screeningmentioning

confidence: 99%

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States

Gidding,

Ballantyne,

Cuchel

et al. 2024

Global Heart

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Genetics in the diagnosis and treatment of cardiovascular diseases

Bliden,

Singh,

Shanoada

et al. 2024

J Transl Genet Genom

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Cardiovascular diseases (CVDs) remain one of the leading causes of morbidity and mortality worldwide, with genetics being a major risk factor. Genetic cardiovascular disease can occur either because of single variant (Mendelian) or polygenic influences and has been linked to inherited cardiovascular conditions (ICC) such as arrhythmias, cardiomyopathies, dyslipidemias, and aortopathies which are significant factors leading to sudden cardiac death in young adults. Timely screening, diagnosis, and management of ICC can not only provide life-saving treatment to a patient, but also identify at-risk family members. The field of pharmacogenomics (PGx) helped to understand the variable action of medications such as clopidogrel, aspirin, warfarin, and statin according to genotype. Newer technologies such as multi-omics can combine data from multiple sources such as genomics, epigenomics, transcriptomics, proteomics, metabolomics, and microbiome. These advancements can contribute to the development of polygenic prediction scores and precision medicine tailored to individual genotypes. Substantial strides have been made in genetic-based therapeutics, gene editing technologies, and drug delivery systems, which have significantly expanded treatment options for patients with acquired or inherited CVDs. Although variable, the country- and society-specific guidelines on genetic testing for ICC and PGx and treatment are being continuously updated to keep up with ongoing research in the field. Along with appropriate knowledge, other factors including cost and availability of genetic testing play a vital role in the usage by both physicians and patients. With the advent of newer genetic testing for CVDs, a key factor is the availability of genetic counselors (GCs) who are specifically trained in cardiovascular genomics. The current review provides a concise summary of the major influences of genetics in the diagnosis and treatment of CVDs.

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

Cited by 3 publications

References 18 publications

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States

Genetics in the diagnosis and treatment of cardiovascular diseases

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