Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study

Mulder, J.; Kranenburg, Leonieke W.; Treling, Willemijn J.; Hovingh, G. Kees; Rutten, Joost H.W.; Busschbach, Jan; Lennep, Jeanine E. Roeters van

doi:10.1016/j.atherosclerosis.2022.03.015

Cited by 5 publications

(6 citation statements)

References 28 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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“…The majority of patients with HoFH have distress about having children, and women with HoFH have even more concerns compared to men due to the impact of treatment interruptions [ 52 – 54 ]. The 2023 EAS HoFH consensus statement addresses this issue and recommends individualized care in all stages of family planning [ 6 ].…”

Section: Family Planning and Pregnancymentioning

confidence: 99%

Sex Differences in Familial Hypercholesterolemia

Klevmoen,

Mulder,

Roeters van Lennep

et al. 2023

Curr Atheroscler Rep

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Purpose of Review This review aims to summarize the existing research on sex differences in familial hypercholesterolemia (FH) across the lifespan. Recent Findings From childhood onward, total- and low-density lipoprotein cholesterol (LDL-C) levels in girls are higher than those in boys with FH. By the age of 30 years, women with FH have a higher LDL-C burden than men. In adulthood, women are diagnosed later than men, receive less lipid-lowering treatment, and consequently have higher LDL-C levels. An excessive atherosclerotic cardiovascular disease risk is reported in young female compared to male FH patients. The periods of pregnancy and breastfeeding contribute to treatment loss and increased cholesterol burden. Summary Earlier initiation of treatment, especially in girls with FH, and lifelong treatment during all life stages are important. Future research should aim to recruit both women and men, report sex-specific data, and investigate the impact of the female life course on cardiovascular outcomes. Future guidelines should include sex-specific aspects. Graphical abstract

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“…Atualmente, as opções terapêuticas para a HFHo incluem uma linha diversa de drogas hipolipemiantes, a saber o uso de estatinas como primeira linha, além do uso de outros fármacos como possíveis escolhas, como ezetimiba, e/ou aférese de lipoproteínas e/ou novos medicamentos, como inibidores da proproteína convertase subtilisina/kexina tipo 9 (PCSK9) e inibição da proteína microssomal de transferência de triglicerídeos (MTP), como a lomitapida. Mesmo através do uso combinado entre essas estratégias terapêuticas, o alcance de metas consideradas ideais de LDL-C permanece ainda um desafio para profissionais cardiologistas e endocrinologistas (Mulder, et al, 2022).…”

Section: Seguimento Manejo Clínico E Controle Dos Danos Cardiovascularesunclassified

“…Mulder e colaboradores também avaliaram que a percepção acerca da gravidade da hipercolesterolemia familiar é um fator subjetivo e que deve ser levado em consideração ao longo de suas avaliações clínicas. Nesse estudo qualitativo, foi possível observar que ao se avaliar a qualidade de vida de pacientes portadores de HF na Holanda, a maioria dos indivíduos que possuíam essa condição não entendiam a gravidade das possíveis repercussões clínicas aos quais poderiam ser acometidos, e por isso não falavam ativamente sobre a HFHo ou sobre a presença de estenose aórtica (Mulder, et al, 2022).…”

Section: Seguimento Manejo Clínico E Controle Dos Danos Cardiovascularesunclassified

“…As estatísticas mais recentes acerca dessa condição estimam que a prevalência de HFHo atinge em média 1 a cada 160.000 ou 320.000 habitantes do continente europeu e do norte-americano (Wu, et al, 2021). Ainda assim, alguns autores sugerem que essa incidência pode alcançar, em uma escala global, aproximadamente 1 a cada 1.000.000 de indivíduos (Mulder, et al, 2022). Em sua forma de expressão heterozigótica, a hipercolesterolemia familiar (HFHe) possui uma prevalência maior, acometendo cerca de 1 a cada 250 indivíduos, afetando mais de 30 milhões de pessoas em uma perspectiva global (Rosenson, 2021).…”

Section: Introductionunclassified

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Estenose aórtica e risco cardiovascular em pacientes portadores de Hipercolesterolemia Familiar Homozigótica: uma revisão de escopo

Santos¹,

Lima²,

Roman

et al. 2022

RSD

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A hipercolesterolemia familiar homozigótica (HFHo) consiste em uma condição hereditária, autossômica e bialélica, capaz de gerar níveis plasmáticos elevados de colesterol de baixa densidade (LDL-C). Dessa forma, os pacientes que apresentam essa patogenia detém maior risco para o desenvolvimento de eventos cardiovasculares adversos e para o acometimento por estenose aórtica (EA). O objetivo do presente texto é discorrer acerca da associação entre a EA e o risco cardiovascular em pacientes com HFHo. Para essa Revisão de Escopo, realizada através das plataformas PubMed e Science Direct, entre 2020 e 2022, os descritores eleitos foram “Aortic stenosis’’, “Homozygous Familial Hypercholesterolemia’’ e “Atherosclerosis’’, associados ao operador booleano “AND’’. Os critérios de inclusão consistiram em 1) ensaios clínicos, testes controlados e aleatórios, revisões e meta-análises; 2) trabalhos sobre a associação entre a EA e o risco cardiovascular na HFHo 3) estudos que avaliaram o desenvolvimento de injúria cardiovascular em decorrência da HFHo, assim como seu manejo, seguimento e tratamento e 4) artigos em inglês, espanhol e português. Os critérios de exclusão consistiram em inadequações ao tema, relatos de casos, estudos com animais, além de textos fora do limite temporal. Observou-se que a estenose aórtica supravalvar (EASV) representou um dos principais agravos associados à HFHo, associada ou não ao infarto agudo do miocárdio, à doença coronariana e ao acidente vascular cerebral. A melhor forma de associação entre as terapias hipolipemiantes, bem como as estratégias de rastreio genético e de seguimento ainda são tópicos controversos, assim como a escolha das terapias de cardioproteção.

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Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study

Cited by 5 publications

References 28 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

Sex Differences in Familial Hypercholesterolemia

Estenose aórtica e risco cardiovascular em pacientes portadores de Hipercolesterolemia Familiar Homozigótica: uma revisão de escopo

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