Identification and management of familial hypercholesterolaemia: what does it mean to primary care?

Qureshi, Nadeem; Humphries, Steve E.; Seed, Mary; Rowlands, Philip; Minhas, Rubin

doi:10.3399/bjgp09x472674

Cited by 63 publications

(46 citation statements)

References 14 publications

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“…Sin embargo, este enfoque es controversial, ya que múltiples entidades 8,[29][30][31] recomiendan un cribaje selectivo, a realizarse sólo en grupos de alto riesgo.…”

Section: Discussionunclassified

Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down

Piedra

Alberti

Cerda

et al. 2017

Rev. chil. pediatr.

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ResumenEl síndrome de Down (SD) presenta mayor riesgo de desarrollar enfermedades crónicas asociadas a mayor morbimortalidad por enfermedad cardiovascular. Algunos estudios han mostrado un peor perfil lipídico en niños con SD, sin embargo, hasta el momento no existen recomendaciones de tamizaje para dislipidemia en estos pacientes. Objetivo: Describir la frecuencia de dislipidemia en una población chilena de niños y adolescentes con SD. Pacientes y Método: Estudio retrospectivo, que incluyó pacientes con SD entre 2 y 18 años, participantes de un programa de salud para personas con SD en la Red de Salud UC CHRISTUS, entre los años 2007 y 2015. Se incluyeron pacientes que tuvieran perfil lipídico tomado entre sus exámenes de rutina. Se registraron características clínicas, comorbilidades relevantes, malformaciones, medicamentos, estado nutricional y estado puberal. El diagnóstico de dislipidemias se realizó de acuerdo a los criterios de la NHLBI 2011. Resultados: Se revisaron las fichas clínicas de 218 niños con SD, 58,3% tenía algún tipo de dislipidemia. Las más frecuentes fueron colesterol HDL bajo (15,1%) e hipertrigliceridemia (12,8%). La dislipidemia aterogénica (C-HDL bajo más hipertrigliceridemia) fue la dislipidemia combinada más frecuente (13,3%), la cual no se asoció a sobrepeso u obesidad. Conclusiones: Se encontró una alta frecuencia de dislipidemia en niños y adolescentes chilenos con SD. Nuestros resultados nos hacen sugerir la realización de un perfil lipídico de forma temprana a todos los pacientes con SD, independiente de la presencia de factores de riesgo de dislipidemia.

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“…Sin embargo, este enfoque es controversial, ya que múltiples entidades 8,[29][30][31] recomiendan un cribaje selectivo, a realizarse sólo en grupos de alto riesgo.…”

Section: Discussionunclassified

Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down

Piedra

Alberti

Cerda

et al. 2017

Rev. chil. pediatr.

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“…A coronary event in a family member can increase the perception of risk and the willingness of relatives to be subsequently tested for FH. Screening in primary care should employ an initial non-fasting lipid profile [8], which should be undertaken opportunistically, based on family history of hypercholesterolaemia and premature CVD (age < 60 years) [27,28]. FH screening should also be offered to all patients with tendon xanthomata and premature arcus cornealis [6][7][8][9]22].…”

Section: Detection Of Index Cases: Screening For Fhmentioning

confidence: 99%

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Watts

Gidding²,

Wierzbicki

et al. 2014

Eur J Prev Cardiolog

143

204

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Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.

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“…The research data show that only 15% of patients with FH can do regular medical visits [4], the vast majority of patients fail to achieve the lipid control objectives, or because of side effects, stains cannot be used at a standard treatment …”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

“…A series of research evidence indicated that among the patients with CHD before the age of 55 patients, 5% of them accompanied with FH [4]. The risk of FH patients with CHD increased 3.5 -16 times compared to patients without FH, and serious gene mutations in homozygous patients are the decisive factors that increase the risk of cardiovascular disease (CVD) [17].…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Familial Hypercholesterolemia with Two Mutations in LDLR Gene: A Case Report and Literature Review

Zhou¹,

Song²,

Sun³

et al. 2017

IJCM

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We report a case of Familial hypercholesterolemia (FH) with two mutations in low density lipoprotein receptor (LDLR) gene and speculate the correlation between the newly discovered mutation type of LDLR gene and FH. We collected and analyzed the clinical data of the proband in the case and her immediate family members, and detected the LDLR, Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK-9) and Apolipoprotein B (Apo B) gene in the peripheral blood of all the participants. We found that the curative effect of the patient is limited, but no obvious complication was detected. Genetic testing results pointed out that there were two mutations in the patient's LDLR gene. One was p.W483* mutation in exon 10 (c. 1448 G > A), another was p.T534I mutation in exon 11 (c. 1601 C > T). The p. W483* mutation in exon 10 was detected in the father and sister, additionally p. T534I mutation in exon 11 was detected in the mother. Both the two LDLR gene mutations are inherited from her parents. We hypothesize that the patient in this case was a complex heterozygote. The newly discovered mutation gene (T534I) may be one of the important causes of dyslipidemia in patients, and its adverse effects are more serious than W483* which have been reported. Also, we predict that the T534I mutation will not cause serious early onset of cardiovascular complications.

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Identification and management of familial hypercholesterolaemia: what does it mean to primary care?

Cited by 63 publications

References 14 publications

Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down

Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

Familial Hypercholesterolemia with Two Mutations in LDLR Gene: A Case Report and Literature Review

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