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Heterozygous Familial Hypercholesterolemia
Circulation, 2016Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as
Angela, Onorato, Amy C, Sturm
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Heterozygous familial hypercholesterolemia presenting as chylomicronemia syndrome
Journal of Clinical Lipidology, 2017Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH.
Sherwin Najera, Robert Hegele
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Identification of people with heterozygous familial hypercholesterolemia
Current Opinion in Lipidology, 2012Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide.
Annie, Haase, Anne C, Goldberg
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Diet in Children Heterozygous for Familial Hypercholesterolemia
Archives of Pediatrics & Adolescent Medicine, 1977Effects of a cholesterol- and saturate-poor, polyunsaturate-rich diet on plasma total and low-density lipoprotein (LDL) cholesterol levels were assessed in 23 children between the ages of 2 and 7 who were heterozygous for well-documented familial hypercholesterolemia.
C J, Glueck +3 more
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The Detection of Heterozygous Familial Hypercholesterolemia in Ireland
Advances in Therapy, 2012Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant condition with a population prevalence of 1 in 500, and is associated with significant cardiovascular morbidity and mortality. It may be caused by mutations in the low-density lipoprotein (LDL) receptor, apolipoprotein B100 (Apo B100), or proprotein convertase subtilisin/kexin ...
O'Kane, Maurice J +6 more
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Evolocumab in Children with Heterozygous Familial Hypercholesterolemia
New England Journal of Medicine, 2020Heterozygous familial hypercholesterolemia — in contrast to the more rare and more severe homozygous familial hypercholesterolemia — is a common genetic cholesterol disorder affecting approximately...
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Serum apolipoproteins in heterozygous familial hypercholesterolemia
Clinica Chimica Acta, 1992In order to characterize the abnormalities of the lipoprotein profile in familial hypercholesterolemia (FH), serum apolipoprotein AI, AII, B, CII, CIII, and E levels were determined by the turbidimetric immunoassay in 48 patients with heterozygous FH. Apolipoprotein B levels in FH were about 2.5 fold higher (203 +/- 48 mg/dl, mean +/- S.D.) than the 30
K, Kajinami +3 more
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Coronary artery disease in heterozygous familial hypercholesterolemia
Atherosclerosis, 1982Serum lipids, lipoproteins and Achilles tendon thickness in 52 patients with heterozygous familial hypercholesterolemia (FH) were investigated in order to clarify what are the important factors for the development of coronary artery disease (CAD) in heterozygous FH patients.
K, Hirobe +6 more
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Peripheral arterial disease in heterozygous familial hypercholesterolemia
Atherosclerosis, 2015Familial hypercholesterolemia is characterized by elevated plasma cholesterol and early coronary arterial disease onset. However, few studies investigated the association of heterozygous familial hypercholesterolemia with peripheral arterial disease.In a cross sectional study 202 heterozygous familial hypercholesterolemia patients (91% confirmed by ...
Carolina Pereira +8 more
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Adrenocortical Response to Adrenocorticotropin in Heterozygous Familial Hypercholesterolemia*
The Journal of Clinical Endocrinology & Metabolism, 1984Receptor-mediated uptake of low density lipoproteins (LDL) provides an important source of cholesterol for corticosteroid synthesis by human adrenocortical cells grown in tissue culture. Recent studies have indicated an impaired adrenocortical response to prolonged ACTH stimulation in patients with abetalipoproteinemia (who lack plasma LDL) and in ...
D R, Illingworth, N A, Alam, S, Lindsey
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