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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

Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge [PDF]

American Journal of Preventive Cardiology
Sitosterolemia is a rare genetic disease caused by loss of function homozygous or compound heterozygous mutations in either ABCG5 or ABCG8 genes encoding sterols transporters.
Anthony Matta, Vanessa Nader, Dorota Ferrières, Jean Ferrières   +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

Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival [PDF]

Frontiers in Cardiovascular Medicine
BackgroundFamilial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, with heterozygous FH (HeFH) affecting approximately 1 in 310 individuals.
Lukáš Zlatohlávek, Jana Becherová Beňová, Tereza Foglarová, Tereza Dudková, Jaroslav A. Hubáček, Jaroslav A. Hubáček   +5 more
doaj   +2 more sources

Intensive Combination LDL-Lowering Therapy in a Patient With Homozygous Familial Hypercholesterolemia [PDF]

JACC: Case Reports
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, Hirofumi Okada, MD, Masa-aki Kawashiri, MD, Masayuki Takamura, MD   +3 more
doaj   +2 more sources

Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia [PDF]

Indian Dermatology Online Journal
Nikhil Mehta, Gouri Anand, Anamika Choudhary, Somesh Gupta   +3 more
doaj   +2 more sources

Case report: Therapy adherence, MTTP variants, and course of atheroma in two patients with HoFH on low-dose, long-term lomitapide therapy

Frontiers in Genetics, 2023
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare and devastating genetic condition characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) leading to an increased risk of premature atherosclerosis ...
Meral Kayikcioglu, Hasan Selcuk Ozkan, Burcu Yagmur, Selen Bayraktaroglu, Asli Tetik Vardarli   +4 more
doaj   +1 more source

Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

Clinical Case Reports, 2023
Familial hypercholesterolemia (FH) is a rare but life‐threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen‐year‐old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid
Amal Chamli, Anissa Zaouak, Refka Frioui, Samy Fenniche, Houda Hammami   +4 more
doaj   +1 more source

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   +1 more source