Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

Schmidt, Erik Berg; Hedegaard, Berit Storgaard; Retterstøl, Kjetil

doi:10.1136/heartjnl-2019-316276

Cited by 23 publications

(21 citation statements)

References 48 publications

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“…Familial hypercholesterolemia often diagnosed using the following diagnostic criteria: UK Simon Broome System and the Dutch Lipid Clinic Network criteria [11][12][13][14][15][16][17].…”

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

“…The Dutch Lipid Clinic Network Criteria can be applied in adults. The items included in Dutch Lipid Clinic Network are the following: laboratory findings (LDL-C), physical examination (tendon xanthomas, arcus cornealis), molecular diagnosis (mutation LDLR, APOB or PCSK9), family history (atherosclerotic cardiovascular disease, tendon xanthomas, arcus cornealis, raised LDL-C), and patient history (coronary artery disease, cerebral or peripheral vascular disease) [11][12][13][14][15][16][17]. Dutch Lipid Clinic Network Criteria is attached in Table 3.…”

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

“…In the Simon Broome criteria, a positive genetic test is sufficient for a definitive diagnosis of familial hypercholesterolemia. In the Dutch Lipid Clinic Network criteria, a positive genetic test should be accompanied by an additional item (for example, elevated LDL-C levels) to fulfill the definite diagnosis criteria [11][12][13][14][15][16][17].…”

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

“…Once an individual is identified with familial hypercholesterolemia (index case) the cascade screening of family members of the known index case is recommend for identify new cases of familial hypercholesterolemia. Cascade screening could include LDL-C measurement, genetic testing, or both [11][12][13][14][15][16][17]30].…”

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

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Familial Hypercholesterolemia

Bagnasco¹

2021

Management of Dyslipidemia

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Familial hypercholesterolemia is a genetic and metabolic disorder associated with an increased risk of morbidity and mortality. Two main types of familial hypercholesterolemia are distinguished: heterozygous familial hypercholesterolemia and homozygous familial hypercholesterolemia. Homozygous familial hypercholesterolemia progresses much more aggressively with higher levels of LDL-C and higher risk of cardiovascular disease at earlier ages. The prognosis of homozygous familial hypercholesterolemia largely depends on the LDL-C levels. Reducing the LDL-C level is one of the primary goals of treatment patients with familial hypercholesterolemia. Effective control of LDL-C significantly reduces the cardiovascular morbidity and mortality. Understanding the factors likely to affect treatment adherence is paramount. Adherence to treatment can be improve when a genetic etiology is confirmed. Positive genetic test result has beneficial effects on adherence to pharmacotherapy and in achieving LDL-C levels reduction.

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“…Familial hypercholesterolemia often diagnosed using the following diagnostic criteria: UK Simon Broome System and the Dutch Lipid Clinic Network criteria [11][12][13][14][15][16][17].…”

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

Section: Diagnosis Of Familial Hypercholesterolemiamentioning

confidence: 99%

See 2 more Smart Citations

Familial Hypercholesterolemia

Bagnasco¹

2021

Management of Dyslipidemia

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“…The Education in Heart article in this issue discusses the diagnosis and management of familial hypercholesterolemia. 8 Our Cardiology in Focus article 'What to do when things go wrong' provides a thoughtful discussion of the key steps in dealing with medical error. 9 The Image Challenge in this issue 10 provides a concise review of a sophisticated set of possible diagnoses to consider in a patient with a new murmur and classic echocardiographic images.…”

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confidence: 99%

Heartbeat: cardiovascular health in the time of COVID-19

Otto

2020

Heart

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Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway

et al. 2022

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Key Points Question Is genetically caused high low-density lipoprotein cholesterol associated with increased risk of dementia? Findings This cohort study including 3520 individuals with genetically verified familial hypercholesterolemia (FH) and 69 713 age-matched and sex-matched controls found no excess risk of dementia for patients with FH vs matched controls. Furthermore, there was no association between statin use and dementia. Meaning These findings suggest that individuals with FH have no excess risk of dementia and that there is no association between long-term high-intensity statin use and dementia risk.

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Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

Cited by 23 publications

References 48 publications

Familial Hypercholesterolemia

Familial Hypercholesterolemia

Heartbeat: cardiovascular health in the time of COVID-19

Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway

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