Results 1 to 10 of about 30,354 (250)

Treatment of Homozygous Familial Hypercholesterolemia. [PDF]

JACC Adv
Homozygous familial hypercholesterolemia is a rare, life-threatening, genetic disorder characterized by severe hypercholesterolemia, xanthomata, and accelerated atherosclerosis. Untreated, it results in aortic root and coronary artery disease in childhood or adolescence.
Cegla J, Walji S, Barton L, Neuwirth C, Thompson GR.   +4 more
europepmc   +4 more sources

Evinacumab for Homozygous Familial Hypercholesterolemia

New England Journal of Medicine, 2020
Homozygous familial hypercholesterolemia is characterized by premature cardiovascular disease caused by markedly elevated levels of low-density lipoprotein (LDL) cholesterol. This disorder is associated with genetic variants that result in virtually absent (null-null) or impaired (non-null) LDL-receptor activity.
Frederick J Raal, Robert S Rosenson, Laurens F Reeskamp   +2 more
exaly   +6 more sources

Homozygous Familial Hypercholesterolemia Treatment: New Developments. [PDF]

Curr Atheroscler Rep
Abstract Purpose of review Homozygous familial hypercholesterolaemia (HoFH) is characterized by marked elevation of low-density lipoprotein cholesterol (LDLC) and premature atherosclerotic cardiovascular disease. This is a review of novel pharmacological therapies to lower LDLC in patients with HoFH.
Blom DJ, Marais AD, Raal FJ.
europepmc   +4 more sources

Homozygous familial hypercholesterolemia

Indian Journal of Endocrinology and Metabolism, 2012
Familial hypercholesterolema (FH) is an inherited autosomal dominant disorder of lipid metabolism. We report a 3 years old female child who presented with multiple eruptive xanthomatosis of skin since 6 months of age and had deranged lipid profile ...
Ravi Kumar Parihar, Mohd. Razaq, Ghanshyam Saini   +2 more
doaj   +3 more sources

Aortic Stenosis in Homozygous Familial Hypercholesterolemia [PDF]

JACC: Advances
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease.
Armen Erzingatzian, BSc, Zobaida Al-Baldawi, MD, MSc, Isabelle Ruel, PhD, Leslie Brown, MSc, Mark H. Sherman, MD, Nathalie Laflamme, MSc, Jean Bergeron, MD, MSc, Patrick Couture, MD, PhD, Martine Paquette, MSc, Alexis Baass, MD, MSc, Diane Brisson, PhD, Miriam Larouche, MSc, Daniel Gaudet, MD, PhD, Lubomira Cermakova, MSc, Darryl Wan, MD, Liam R. Brunham, MD, PhD, Gordon A. Francis, MD, G.B. John Mancini, MD, Brooke A. Kennedy, BSc, Robert A. Hegele, MD, Gary F. Lewis, MD, Brian W. McCrindle, MD, MPH, Thomas Ransom, MD, MSc, Ruth McPherson, MD, PhD, Nicolo Piazza, MD, PhD, Benoit de Varennes, MD, MSc, Jacques Genest, MD, Iulia Iatan, MD, PhD   +27 more
doaj   +2 more sources

Xanthoma tuberosum in homozygous familial hypercholesterolemia

Annals of Pediatric Cardiology, 2014
Familial homozygous hypercholesterolemia is one of the high risk factors that can result in premature coronary arterial disease leading to severe morbidity and premature death in children and young adults. We describe a rare example of extensive xanthoma
Nagaraja Moorthy, Rajiv Ananthakrishna, Prabhavathi Bhat, Manjunath C Nanjappa   +3 more
doaj   +3 more sources

Homozygous familial hypercholesterolemia with valvulopathy

Journal of Clinical and Preventive Cardiology, 2019
Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipid metabolism. The occurrence of its homozygous form is rare. This is a case of a young girl who presented with syncope and was found to have multiple tuberous xanthomas
Ashokan Nambiar, Robin George Manappallil, V G Pradeep Kumar, Avinash Sarpamale   +3 more
doaj   +2 more sources

Liver Transplantation in a Child With Homozygous Familial Hypercholesterolemia: A Case Report and Literature Review [PDF]

Reviews in Cardiovascular Medicine
Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder. Meanwhile, HoFH is characterized by extremely high plasma levels of low-density lipoprotein cholesterol (LDL-C) from birth, alongside xanthomas and premature ...
Chongxia Zhong, Zhu Li, Yihai Liu, Biao Xu, Lina Kang   +4 more
doaj   +2 more sources

Baseline characteristics and response to evinacumab in females and males with homozygous familial hypercholesterolemia in the ELIPSE OLE study [PDF]

American Journal of Preventive Cardiology
Aim: Evinacumab is an ANGPTL-3 inhibitor developed for the treatment of homozygous familial hypercholesterolemia (HoFH), a rare condition characterized by extremely elevated LDL-cholesterol (LDL-C) levels and premature atherosclerotic cardiovascular ...
Diane Brisson, Albert Wiegman, Alpana Waldron, Pinay Kainth, Frederick J Raal, Daniel Gaudet   +5 more
doaj   +2 more sources

Treatment of Homozygous Familial Hypercholesterolemia With EvinacumabNovel Teaching Points [PDF]

CJC Open, 2022
Patients with homozygous familial hypercholesterolemia (HoFH) have extremely elevated levels of low-density lipoprotein cholesterol (LDL-C), with premature atherosclerosis and aortic valve disease.
Natasha Jeraj, BSc, Shih-Han S. Huang, MD, Brooke A. Kennedy, BSc, Robert A. Hegele, MD   +3 more
doaj   +3 more sources