Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management

Neil, H. A. W.; Betteridge, D. J.; Broome, Kim; Durrington, PN; Hawkins, M. R. S.; Humphries, SE; Mann, J I; Miller, J P; Thompson, G. R.; Thorogood, Margaret; Potok, M H N; Mathews, Frances; Arnsten, K; Flemming, Sven; Alkeles, RS; Finnie, RM; Galton, D. J.; Hillson, Rowan; Hughes, E. G.; Laker, M. F.; Lewis, Barry; Wierzbicki, A. S.; Lorimer, Ross; Matthews,; Reckless, J. P. D.; Sandle, L. N.; Seed, Mary; Taylor, Kirby; West, Roy

doi:10.1016/s0021-9150(98)00200-7

Cited by 345 publications

(12 citation statements)

References 25 publications

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“…Timely detection of FH is important because the presence of definite or probable FH increases 13-fold (95%CI = 10–17) risk of CAD compared to the general population [5]. In Europe, FH occurs in up to 8% of patients admitted for acute coronary syndromes, a frequency that is 10 times higher than in the general population [6].…”

Section: Introductionmentioning

confidence: 99%

Comparison of long-term outcomes of young patients after a coronary event associated with familial hypercholesterolemia

et al. 2019

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Objective Familial hypercholesterolemia (FH) is an important cause of premature coronary artery disease (CAD). Prognosis data are lacking in patients with FH and coronary artery disease particularly in the era of widespread statin use. We compared long-term prognosis between patients with and without FH after a coronary event. Methods In this retrospective study, 865 patients younger than 40 years of age with CAD were enrolled. FH was diagnosed based on the Dutch Lipid Clinic Network algorithm. Baseline characteristics, coronary angiographic findings and prognosis during median follow-up of 5 (3–8) years were compared between patients with or without FH. Results Definite or probable FH was detected in 37 patients (4.3%) and possible FH in 259 patients (29.9%). FH was associated with significantly higher prevalence of multi-vessel lesions ( p < 0.001) and higher Gensini score ( p = 0.008). In the subset of 706 patients for whom follow-up data were available, 127 (18.0%) suffered major adverse cardiovascular and cerebrovascular events (MACCE). FH was associated with increased risk of MACCE, independently of age, sex, smoking, body mass index, hypertension or diabetes mellitus (HR = 2.30, 95%CI = 1.09 to 4.84, p = 0.028). Conclusions FH is an independent risk factor for MACCE in young patients after a coronary event during long-term follow-up. It is necessary to optimize lipid treatment of patients with FH after a coronary event.

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Section: Introductionmentioning

confidence: 99%

Comparison of long-term outcomes of young patients after a coronary event associated with familial hypercholesterolemia

et al. 2019

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“…It is estimated that, without treatment, at least 50% of men and 30% of women would experience a fatal or nonfatal coronary event by the age of 60, and that adults under 40 are at almost 100 times greater risk of fatal CHD than the general population in that age group [7]. Early diagnosis can lead to marked improvement in life expectancy, especially since the introduction of statin drugs [8, 9]. It is generally agreed that treatment should commence by the beginning of the third decade which is well before the general population is likely to undergo screening for cardiovascular risk.…”

Section: Introductionmentioning

confidence: 99%

Patients’ Understandings and Experiences of Familial Hypercholesterolemia

Weiner

Durrington

2008

Public Health Genomics

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Aims: To explore patients’ understanding and experiences of familial hypercholesterolemia (FH) and the significance of the hereditary aspect of the condition. Methods: A qualitative study undertaken at a large lipid clinic in the north of England, involving semistructured interviews with 31 patients with definite FH, aged 18 years or over, who had attended the clinic for at least 6 months. Results: Participants’ explanations of FH and coronary heart disease (CHD) were not focused on heredity. FH was regarded as controllable and CHD as avoidable. Many participants had apparently been unaware of a family history of CHD or hypercholesterolemia prior to their own diagnosis. It was unclear how much information was communicated among relatives. While the testing of children was generally not viewed as a problem, there was some concern about young people worrying about or resisting diagnosis. Conclusion: The study suggests that people with FH do not view genes/heredity as having a deterministic role in causing heart disease and that FH is largely seen as unproblematic in the long term. Nevertheless, particular support may be needed when diagnosing children and young adults. The communication of information in families is unpredictable and this has important implications for the organization of screening programs.

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“…Previous studies, which were conducted on the Jordanian population, showed that the mean serum Hcy level ranged from 10.3 to 17.7 as the highest reported mean among a subsample of healthy individuals in Jordan. 30,31 Thus, our patient had a higher serum Hcy level than the general population in Jordan. Given the family history of premature coronary heart disease, and elevated LDL-cholesterol and cholesterol levels increase the suspicion of familial hypercholesterolemia (FH).…”

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confidence: 62%

<p>A Concurrent Ischemic Stroke, Myocardial Infarction, and Aortic Thrombi in a Young Patient with Hyperhomocysteinemia: A Case Report</p>

Rawashdeh

Al-Mistarehi

Yassin

et al. 2020

IMCRJ

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We are presenting a case report of a previously healthy 39-year-old man who was found to have acute inferior ST-elevation myocardial infarction (STEMI) and acute large right middle cerebral artery (MCA) ischemic stroke with hemorrhagic transformation. Transesophageal echocardiogram and chest CT angiogram revealed two thrombi; one attached to the wall of the ascending aorta just above the right coronary artery sinus, and one at the origin of the brachiocephalic trunk. The occlusion of the coronary artery and right MCA most likely could be because of embolization from these thrombi. Extensive workup looking for underlying etiology and risk factors for these concurrent vascular events in this young man revealed hyperhomocysteinemia along with unfavorable lipid profile, and family history of premature coronary artery disease which increased the suspicion of familial hypercholesterolemia. Besides, the presence of vitamin B12 and folate deficiencies. The elevated serum homocysteine is likely a major risk factor for thromboembolism in this patient. The patient received antithrombotics and vitamin supplementations and gradually improved without any worsening of the stroke's hemorrhagic transformation. We suggest that hyperhomocysteinemia needs to be considered in the differential etiology of vascular events in young people or those with no significant history of major vascular risk factors. Besides, vitamin supplementation could be a cost-effective, safe, and efficient way to decrease elevated serum homocysteine levels and prevent vascular complications. As well as this case report demonstrates that antithrombotics can safely be used after stroke's hemorrhagic transformation without neurological deterioration or aggravation of hemorrhagic transformation.

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Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management

Cited by 345 publications

References 25 publications

Comparison of long-term outcomes of young patients after a coronary event associated with familial hypercholesterolemia

Comparison of long-term outcomes of young patients after a coronary event associated with familial hypercholesterolemia

Patients’ Understandings and Experiences of Familial Hypercholesterolemia

<p>A Concurrent Ischemic Stroke, Myocardial Infarction, and Aortic Thrombi in a Young Patient with Hyperhomocysteinemia: A Case Report</p>

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