Familial Hypercholesterolaemia
Heterogeneity in FH: What are the implications for management?
According to Professor Frederick Raal, South Africa, irrespective of genotype, what matters is reducing the LDL-C burden with lipid-lowering therapy. Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder usually resulting from mutations in the LDL receptor (LDLR) gene characterised by elevated levels of LDL-cholesterol (LDL-C)…
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Reducing the burden of Disease and Death from Familial Hypercholesterolemia: A Call to Action
Familial hypercholesterolemia (FH) is a genetic disease characterized by substantial elevations of low-density lipoprotein cholesterol, unrelated to diet or lifestyle. Untreated FH patients have 20 times the risk of developing coronary artery disease, compared to the general population. Estimates indicate that as many as 1…
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Paediatric FH: do you need a genetic diagnosis?
Familial hypercholesterolaemia (FH) is characterised clinically by life-long elevated levels of low-density-lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease. FH is predominantly due to mutations in the gene encoding the LDL receptor, and less commonly to mutations in the APOB or PCSK9 genes….
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ODYSSEY FHI FHII
Fewer than 80% of familial hypercholesterolaemia (FH) patients achieved an LDL-C level of
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Rising to the Challenge: Implementing Models of Care in FH
Winthrop Professor Gerald F. Watts DSc PhD MD FRACP FRCP, Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital School of Medicine and Pharmacology, University of Western Australia. GPO Box X2213, Perth, WA 6847, Australia; E-mail: [email protected] While several guidelines, mostly based on expert opinion, have…
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Improving the management of the FH patient
Professor Raul Santos from Brazil says that the new therapies which inhibit PCSK9 to significantly reduce low density Lipoprotein Cholesterol (LDL-C) when given in addition to other cholesterol lowering drugs offer a very important advance in reducing cardiovascular risk in people with Familial Hypercholesterolemia (FH).
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FH is a family disorder
For every one patient there are an additional 8 cases of familial hypercholesterolaemia (FH) to be diagnosed – Katherine Wilemon, Founder, President and CEO of the FH Foundation: see http://thefhfoundation.org/ Underdiagnosis and undertreatment of FH are major issues. The clinical relevance is underlined by evidence…
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Missing FH: How can we improve FH referral and diagnosis?
Heterozygous familial hypercholesterolemia (FH) is neither a rare disease nor a sentence to a life full of complications and early death. Recent evidence shows that even when founder effects are taken into account, heterozygous FH affects around 1/200-300 people instead of the historical estimate of…
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Rationale and Design of the Familial Hypercholesterolemia Foundation CAscade SCreening for Awareness and Detection
Familial hypercholesterolemia (FH) is a hereditary condition caused by various genetic mutations that lead to significantly elevated low-density lipoprotein cholesterol levels and resulting in a 20-fold increased lifetime risk for premature cardiovascular disease. Although its prevalence in the United States is 1 in 300 to…
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