Intensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia [PDF]
We present a young boy with a diagnosis of homozygous familial hypercholesterolemia who presented with statin and ezetimibe resistance. The patient received lipoprotein apheresis at 6 years of age.
Hayato Tada, MD +3 more
doaj +3 more sources
Homozygous Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance. Homozygotes of FH (HoFH) may have plasma LDL-C levels, which are at least twice as high as those of heterozygous FH ...
Nohara, Atsushi +13 more
openaire +4 more sources
Current Treatment Options in Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of
Meral Kayikcioglu, Lale Tokgozoglu
doaj +2 more sources
Marked plaque regression in homozygous familial hypercholesterolemia [PDF]
Both plasma low-density lipoprotein (LDL) cholesterol levels and risk for premature cardiovascular disease are extremely elevated in patients with homozygous familial hypercholesterolemia (HoFH), despite the use of multiple cholesterol lowering treatments.
Laurens F. Reeskamp +12 more
openaire +4 more sources
New algorithms for treating homozygous familial hypercholesterolemia
Purpose of review We reviewed current and future therapeutic options for patients with homozygous familial hypercholesterolemia (HoFH) and place this evidence in context of an adaptable treatment algorithm. Recent findings Lowering LDL-C levels to normal in patients with HoFH is ...
Tromp, Tycho R., Cuchel, Marina
openaire +4 more sources
Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival [PDF]
BackgroundFamilial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, with heterozygous FH (HeFH) affecting approximately 1 in 310 individuals.
Lukáš Zlatohlávek +5 more
doaj +2 more sources
Homozygous Familial Hypercholesterolemia
This case report describes a 67-year-old African-American woman with homozygous familial hypercholesterolemia caused by 2 pathogenic variants in the LDLR gene.
Lisa Young +2 more
semanticscholar +3 more sources
Homozygous Familial Hypercholesterolemia
Corresponding ...
F. Raal
semanticscholar +5 more sources
The High Price of Interrupted Follow-Up: Catastrophic Progression of Homozygous Familial Hypercholesterolemia-A Case Report and Literature Review. [PDF]
ABSTRACT Familial hypercholesterolemia (FH) is the most common monogenic lipid disorder, primarily resulting from mutations in LDLR, APOB, and PCSK9 genes. These mutations cause persistently high levels of low‐density lipoprotein cholesterol (LDL‐C), predisposing affected individuals to premature atherosclerotic cardiovascular disease (ASCVD ...
Dastjerdi P +5 more
europepmc +2 more sources
Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia [PDF]
Nikhil Mehta +3 more
doaj +2 more sources

