Results 61 to 70 of about 852 (150)

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

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   +1 more source

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports, Volume 12, Issue 10, October 2024.
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease. Prompt diagnosis and aggressive lipid‐lowering therapy can significantly reduce morbidity and mortality rates.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
wiley   +1 more source

The Advance of In Silico Evidence to Transform Pediatric Drug Development for Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1731-1734, November 2025.
Jane Knöchel, Ping Zhao, Rajat Desikan, Jiawei Zhou, João A. Abrantes, Lutz Harnisch   +5 more
wiley   +1 more source

HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH) REQUIRES QUADRUPLE LIPID-LOWERING THERAPY TO ACHIEVE APPROPRIATELY LOW LDL-C

American Journal of Preventive Cardiology
Therapeutic Area: Pharmacologic Therapy Case Presentation: Ms. X is a mid-40-year-old woman presented with a history of LDL-C >400 mg/dL initially identified while she was in college.
Viet Trung Le, DMSc, PA-C
doaj   +1 more source

A machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia

Scientific Reports
Homozygous familial hypercholesterolemia (HoFH) is an underdiagnosed and undertreated ultra-rare disease. We utilized claims data from the Komodo Healthcare Map database to develop a machine-learning model to identify potential HoFH patients.
Jing Gu, Matthew Epland, Xinshuo Ma, Jina Park, Robert J. Sanchez, Ying Li   +5 more
doaj   +1 more source

Breaking barriers: Innovative therapies for managing homozygous familial hypercholesterolemia

Experimental and Molecular Pathology
Homozygous familial hypercholesterolemia (HoFH) is a rare autosomal recessive disorder characterized by variants in genes involved in the regulation of low-density lipoprotein cholesterol (LDL-C) metabolism.
Shuai-Jie Huang, Ping Huang, Nan-Nan Song, Xian-Hui Jia, Hong-Li Gao, Zhi-Yuan Lu, Xiao-Lan Wen   +6 more
doaj   +1 more source

Pre-operative levels of angiopoietin protein-like 3 (ANGPTL3) in women diagnosed with high-grade serous carcinoma of the ovary

Lipids in Health and Disease
Cancer cells need constant supplies of lipids to survive and grow. Lipid dependence has been observed in various types of cancer, including high-grade serous ovarian carcinomas (HGSOC), which is a lethal form of gynecological malignancy.
Emilie Wong Chong, France-Hélène Joncas, Pierre Douville, Dimcho Bachvarov, Caroline Diorio, Frédéric Calon, Ann-Charlotte Bergeron, Jonatan Blais, Shuk On Annie Leung, Nabil Georges Seidah, Anne Gangloff   +10 more
doaj   +1 more source

Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia

Journal of Pediatric Endocrinology and Metabolism
Abstract Objectives Investigation of the efficacy of the angiopoietin-like protein 3 (ANGPTL3) antibody evinacumab in a four-year-old infant with homozygous familial hypercholesterolemia (HoFH) as an adjunct to lipid apheresis. Case presentation
Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald   +3 more
openaire   +2 more sources

Evinacumab—a treatment for homozygous familial hypercholesterolemia

International Journal of Surgery: Global Health, 2023
Areeba Basaria, Ismat Fatima, Nahid Raufi   +2 more
openaire   +1 more source

Evinacumab with or without lipoprotein apheresis in homozygous familial hypercholesterolaemia

European Journal of Preventive Cardiology
Abstract Aims Homozygous familial hypercholesterolaemia (HoFH) is characterized by markedly elevated LDL cholesterol (LDL-C). Most individuals with HoFH do not reach LDL-C targets with standard lipid-lowering therapies (LLTs).
Patrick M Moriarty, Albert Wiegman, Richard Godin, Alpana Waldron, Robert S Rosenson, Xue-Qiao Zhao, Robert Pordy, Frederick J Raal, Daniel Gaudet   +8 more
openaire   +1 more source