Results 21 to 30 of about 6,623 (164)

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

JACC Case Rep
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.
Tada H, Okada H, Kawashiri MA, Takamura M.   +3 more
europepmc   +3 more sources

The genetics of familial hypercholesterolemia and emerging therapies

The Application of Clinical Genetics, 2015
Anja Vogt Medizinische Klinik und Poliklinik IV, Klinikum der Unversität München, Munich, Germany Abstract: Familial hypercholesterolemia (FH) results in very high levels of atherogenic low-density lipoprotein (LDL) cholesterol from the time ...
Vogt A
doaj   +1 more source

Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry. [PDF]

JACC Adv
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease.
Erzingatzian A, Al-Baldawi Z, Ruel I, Brown L, Sherman MH, Laflamme N, Bergeron J, Couture P, Paquette M, Baass A, Brisson D, Larouche M, Gaudet D, Cermakova L, Wan D, Brunham LR, Francis GA, Mancini GBJ, Kennedy BA, Hegele RA, Lewis GF, McCrindle BW, Ransom T, McPherson R, Piazza N, de Varennes B, Genest J, Iatan I.   +27 more
europepmc   +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

Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia. [PDF]

Indian Dermatol Online J
Mehta N, Anand G, Choudhary A, Gupta S.
europepmc   +2 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   +1 more source

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

Rev Cardiovasc Med
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 ...
Zhong C, Li Z, Liu Y, Xu B, Kang L.
europepmc   +2 more sources

The panorama of familial hypercholesterolemia in Latin America: a systematic review[S]

Journal of Lipid Research, 2016
The burden caused by familial hypercholesterolemia (FH) varies among countries and ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is largely unknown. We present a systematic review (following the PRISMA statement)
Roopa Mehta, Rafael Zubirán, Alexandro J. Martagón, Alejandra Vazquez-Cárdenas, Yayoi Segura-Kato, María Teresa Tusié-Luna, Carlos A. Aguilar-Salinas   +6 more
doaj   +1 more source

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Biomedicines, 2022
Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease.
Francesca Mainieri, Veronica Maria Tagi, Francesco Chiarelli   +2 more
doaj   +1 more source