Clinical utility gene card for: hyperlipoproteinemia, TYPE II. [PDF]
Eur J Hum Genet, 2014 Kassner U +5 more
europepmc +5 more sources
Milky Plasma, Murky Diagnosis: Urgent Plasma Exchange for Severe Hypertriglyceridemia-Induced Hyperviscosity Without Pancreatitis, but With Myocardial Infarction. [PDF]
J Clin ApherABSTRACT Severe hypertriglyceridemia can increase the risk of acute pancreatitis, but also clinically significant hyperviscosity syndrome characterized by the typical signs of neurologic and visual manifestations. Hyperviscosity syndrome is a well‐established medical emergency.
Bodnar C +3 more
europepmc +2 more sources
2022 Consensus statement on the management of familial hypercholesterolemia in Korea [PDF]
The Korean Journal of Internal Medicine, 2022 Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical.
Chan Joo Lee +6 more
doaj +1 more source
Diffuse plane xanthomas as the first manifestation of multiple myeloma. [PDF]
J Dtsch Dermatol GesJDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 11, Page 1451-1453, November 2025.
Koutra E +5 more
europepmc +2 more sources
Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia [PDF]
Endocrinology and Metabolism, 2021 Patients with familial hypercholesterolemia (FH) are at high or very high risk for cardiovascular disease. Those with heterozygous FH (HeFH) often do not reach low-density lipoprotein cholesterol (LDL-C) targets with statin and ezetimibe therapy, and ...
Brian Tomlinson +3 more
doaj +1 more source
Research in Cardiovascular Medicine, 2022 Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by significantly elevated levels of low-density lipoprotein (LDL) cholesterol and is usually diagnosed after the occurrence of major adverse cardiovascular event.
Edin Begic +17 more
doaj +1 more source
Diagnostic Utility of Liver Biopsy in Persistent Unexplained Liver Enzyme Elevation: A Retrospective Cohort Study. [PDF]
JGH OpenABSTRACT Background and Aims Chronically elevated liver enzymes without a clear etiology remain a frequent diagnostic challenge. This study evaluated the diagnostic yield of liver biopsy in such cases and assessed if laboratory parameters predict histological clarification. Methods We retrospectively analyzed 71 patients with unexplained elevated liver
Jaawan S +8 more
europepmc +2 more sources
Pseudohomozygous type II hyperlipoproteinemia [PDF]
Japanese journal of human genetics, 1982 A 12-month-old boy with clinical findings suggestive of homozygous familial hypercholesterolemia, who had no secondary causes of hypercholesterolemia, and whose parents had no lipid abnormalities, was reported. No abnormalities were noted in the low density lipoprotein (LDL) receptor activities of the fibroblasts from patient, parents and sibling.
K, Hamada +8 more
openaire +2 more sources
Molecular diagnosis methods in familial hypercholesterolemia
Anatolian Journal of Cardiology, 2020 Familial hypercholesterolemia (FH) is considered the genetic cause of coronary heart disease and ischemic stroke. FH is mainly an autosomal codominant pattern-based disorder and is primarily determined by point mutations within the low-density ...
Valeriu Moldovan +2 more
doaj +1 more source
Interaction between Glucose and Lipid Metabolism: More than Diabetic Dyslipidemia [PDF]
Diabetes & Metabolism Journal, 2015 Glucose and lipid metabolism are linked to each other in many ways. The most important clinical manifestation of this interaction is diabetic dyslipidemia, characterized by elevated triglycerides, low high density lipoprotein cholesterol (HDL-C), and ...
Klaus G. Parhofer
doaj +1 more source